BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and progn...BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.AIM To enhance understanding by investigating clinical presentation,diagnosis,treatment,complications,and prognoses in adult PIL cases.METHODS We enrolled adult patients diagnosed with PIL between March 2016 and September 2021.The primary outcome involved examining the diagnosis and treatment process of these patients.The secondary outcomes included identifying complications(infections,thromboembolism)and assessing prognoses(frequency of hospitalization and mortality)during the follow-up period.RESULTS Among the 12 included patients,peripheral edema(100%)and diarrhea(75%)were the main presenting complaints.Laboratory tests showed that all the pati-ents exhibited symptoms of hypoalbuminemia and hypogammaglobulinemia.Radiologically,the predominant findings were edema of the small intestine(67%)and ascites(58%).The typical endoscopic finding with a snowflake appearance was observed in 75%of patients.Among the 12 patients,two responded positive-ly to octreotide and sirolimus,and eight who could undergo maintenance therapy discontinued subsequently.Complications due to PIL led to infection in half of the patients,thromboembolism in three patients,and one death.CONCLUSION PIL can be diagnosed in adults across various age groups,with different severity and treatment responses among patients,leading to diverse complications and prognoses.Consequently,tailored treatments will be necessary.We anticipate that our findings will contribute to the management of PIL,an etiology of protein-losing enteropathy.展开更多
BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ syste...BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.展开更多
Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globuli...Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial def inition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fe- cal alpha-1-antitrypsin levels, while others may present with iron def iciency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed moreextensive changes along the length of the small intes- tine. A critical diagnostic element in adults with lym- phangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or in? am- matory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. Treatment has been historically def ined to include a low fat diet with medium-chain triglyceride supplementation that leads to portal venous rather than lacteal uptake. A number of other pharma- cological measures have been reported or proposed but these are largely anecdotal. Finally, rare reports of localized surgical resection of involved areas of small intestine have been described but follow-up in these cases is often limited. 2011 Baishideng. All rights reserved.展开更多
Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lympho...Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lymphopenia and hypogammaglobulinemia,and present with bilateral lower limb edema,fatigue,abdominal pain and diarrhea.Endoscopy reveals diffusely elongated,circumferential and polypoid mucosae covered with whitish enlarged villi,all of which indicate intestinal lymphangiectasia.Diagnosis is conf irmed by characteristic tissue pathology,which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi.The prevalence of PIL has increased since the introduction of capsule endoscopy.The etiology and prevalence of PIL remain unknown.Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL.We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25.The relationship between this deletion on chromosome 4 and PIL remains to be investigated.展开更多
Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropath...Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis.展开更多
BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of inte...BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case reports were published within the last 10 years,pointing towards an underestimation of the true prevalence.The association with female hormone status warrants further investigation.展开更多
Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Co...Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Commonly,lymphangiectasia presents as whitish spots or specks.To our knowledge,small bowel bleeding resulting from polypoid intestinal lymphangiectasia has not been reported.Here,we report a rare case of active bleeding from the small bowel caused by polypoid lymphangiectasia with a review of the relevant literature.An 80-year-old woman was hospitalized for melena.Esophagogastroduodenoscopy could not identify the source of bleeding.Subsequent colonoscopy showed fresh bloody material gushing from the small bowel.An abdominal-pelvic contrast-enhanced computed tomography scan did not reveal any abnormal findings.Video capsule endoscopy showed evidence of active and recent bleeding in the ileum.To localize the bleeding site,we performed double balloon enteroscopy by the anal approach.A small,bleeding,polypoid lesion was found in the distal ileum and was successfully removed using endoscopic snare electrocautery.展开更多
BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review...BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular pathways.CASE SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal lymphangiectasia.The patient most recently visited the hospital with abdominal distension and swelling of the left leg.His mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of pigmentation.To evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene analysis.The results met the diagnostic criteria for TSC.The patient was discharged after symptomatic treatment.Through a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.CONCLUSION In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.展开更多
Primary intestinal lymphangiectasia(PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine. Dilated lymphatics in the small intestinal wall and mesentery are observed in this disease...Primary intestinal lymphangiectasia(PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine. Dilated lymphatics in the small intestinal wall and mesentery are observed in this disease. Laboratory tests of PIL patients revealed hypoalbuminemia, lymphocytopenia, hypogammaglobulinemia and increased stool α-1 antitrypsin clearance. Cell-mediated immunodeficiency is also present in PIL patients because of loss of lymphocytes. As a result, the patients are vulnerable to chronic viral infection and lymphoma. However, cases of PIL with chronic viral infection, such as human papilloma virus-induced warts, are rarely reported. We report a rare case of PIL with generalized warts in a 36-year-old male patient. PIL was diagnosed by capsule endoscopy and colonoscopic biopsy with histological tissue confirmation. Generalized warts were observed on the head, chest, abdomen, back, anus, and upper and lower extremities, including the hands and feet of the patient.展开更多
The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat die...The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat diet improved liver fibrosis.We report the case of a 17-year-old girl affected by PIL whose hepatic fibrosis progressively worsened within one year,despite dietetic support.This and the previous case report describe extraordinary events,which do not allow clear-cut clinical aspects to be established.Nevertheless,both cases suggest that in patients with PIL,it is necessary to closely monitor liver morphology with in-depth investigations including not only ultrasonography,but also elastography.展开更多
BACKGROUND The appearance of the intestinal mucosa during endoscopy varies among patients with primary intestinal lymphangiectasia(PIL).AIM To classify the endoscopic features of the intestinal mucosa in PIL under end...BACKGROUND The appearance of the intestinal mucosa during endoscopy varies among patients with primary intestinal lymphangiectasia(PIL).AIM To classify the endoscopic features of the intestinal mucosa in PIL under endoscopy,combine the patients’imaging and pathological characteristics of the patients,and explain their causes.METHODS We retrospectively analyzed the endoscopic images of 123 patients with PIL who were treated at the hospital between January 1,2007 and December 31,2018.We compared and analyzed all endoscopic images,classified them into four types according to the endoscopic features of the intestinal mucosa,and analyzed the post-lymphographic computed tomography(PLCT)and pathological characteristics of each type.RESULTS According to the endoscopic features of PIL in 123 patients observed during endoscopy,they were classified into four types:nodular-type,granular-type,vesicular-type,and edematous-type.PLCT showed diffuse thickening of the small intestinal wall,and no contrast agent was seen in the small intestinal wall and mesentery in the patients with nodular and granular types.Contrast agent was scattered in the small intestinal wall and mesentery in the patients with vesicular and edematous types.Analysis of the small intestinal mucosal pathology revealed that nodular-type and granulartype lymphangiectasia involved the small intestine mucosa in four layers,whereas ectasia of the vesicular-and edematous-type lymphatic vessels largely involved the lamina propria mucosae,submucosae,and muscular layers.CONCLUSION Endoscopic classification,combined with the patients’clinical manifestations and pathological examination results,is significant and very useful to clinicians when scoping patients with suspected PIL.展开更多
BACKGROUNDThe renal system has a specific pleural effusion associated with it in the form of“urothorax”, a condition where obstructive uropathy or occlusion of thelymphatic ducts leads to extravasated fluids (urine ...BACKGROUNDThe renal system has a specific pleural effusion associated with it in the form of“urothorax”, a condition where obstructive uropathy or occlusion of thelymphatic ducts leads to extravasated fluids (urine or lymph) crossing thediaphragm via innate perforations or lymphatic channels. As a rare disorder thatmay cause pleural effusion, renal lymphangiectasia is a congenital or acquiredabnormality of the lymphatic system of the kidneys. As vaguely mentioned in areport from the American Journal of Kidney Diseases, this disorder can be causedby extrinsic compression of the kidney secondary to hemorrhage.CASE SUMMARYA 54-year-old man with biopsy-proven acute tubulointerstitial nephropathyexperienced bleeding 3 d post hoc, which, upon clinical detection, manifested as amassive perirenal hematoma on computed tomography (CT) scan withoutconcurrent pleural effusion. His situation was eventually stabilized byexpeditious management, including selective renal arterial embolization. Despite good hemodialysis adequacy and stringent volume control, a CT scan 1 mo laterfound further enlargement of the perirenal hematoma with heterogeneoushypodense fluid, left side pleural effusion and a small amount of ascites. Thesefluid collections showed a CT density of 3 Hounsfield units, and drained fluid ofthe pleural effusion revealed a dubiously light-colored transudate withlymphocytic predominance (> 80%). Similar results were found 3 mo later, duringwhich time the patient was free of pulmonary infection, cardiac dysfunction andovert hypoalbuminemia. After careful consideration and exclusion of otherpossible causative etiologies, we believed that the pleural effusion was due to theocclusion of renal lymphatic ducts by the compression of kidney parenchymaand, in the absence of typical dilation of the related ducts, considered our case asextrarenal lymphangiectasia in a broad sense.CONCLUSIONAs such, our case highlighted a morbific passage between the kidney and thoraxunder an extraordinarily rare condition. Given the paucity of pertinentknowledge, it may further broaden our understanding of this rare disorder.展开更多
BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare protein-losing enteropathy characterized by abnormally dilated lymphatic structures,resulting in leakage of lymph(rich in protein,lymphocytes,and fat)from t...BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare protein-losing enteropathy characterized by abnormally dilated lymphatic structures,resulting in leakage of lymph(rich in protein,lymphocytes,and fat)from the intestinal mucosal and submucosal layers and thus hypoproteinemia,lymphopenia,hypolipidemia,and pleural effusion.CASE SUMMARY A 19-year-old Chinese male patient complained of recurrent limb convulsions for the last 1 year.Laboratory investigations revealed low levels of calcium and magnesium along with hypoproteinemia and high parathyroid hormone levels,whereas gastroscopy exhibited chronic non-atrophic gastritis and duodenal lymphatic dilatation.Subsequent gastric biopsy showed moderate chronic inflammatory cell infiltration distributed around a small mucosal patch in the descending duodenum followed by lymphatic dilatation in the mucosal lamina propria,which was later diagnosed as PIL.The following appropriate mediumchain triglycerides nutritional support significantly improved the patient’s symptoms.CONCLUSION Since several diseases mimic the clinical symptoms displayed by PIL,like limb convulsions,low calcium and magnesium,and loss of plasma proteins,it is imperative to conduct a detailed analysis to avoid any misdiagnosis while pinpointing the correct clinical diagnosis and simultaneously ruling out other clinical aspects in the reported cases without any past disease history.A careful assessment should always be made to ensure an accurate diagnosis in a timely manner so that the patient can be delivered quality health services for a positive health outcome.展开更多
Objective To discuss the characters and management of renal lymphangiectasia. Methods The clinical data of two cases of renal lymphangiectasia were reviewed. The first patient was a 37-year-old woman with chief compla...Objective To discuss the characters and management of renal lymphangiectasia. Methods The clinical data of two cases of renal lymphangiectasia were reviewed. The first patient was a 37-year-old woman with chief complaint of lumbago in the right flank for 8 days. B-ultrasound showed mixed echo in perinephric space.展开更多
肠的 lymphangiectasia (IL ) 是扩大淋巴的 vessles 在肠的墙和导致蛋白质和淋巴细胞的损失进肠腔的小肠肠系膜中描绘的稀罕疾病。因为它最经常发生在肠并且不能被上面的胃的内视镜检查法或结肠镜检查检测，并且象 X 光检查和计算机化...肠的 lymphangiectasia (IL ) 是扩大淋巴的 vessles 在肠的墙和导致蛋白质和淋巴细胞的损失进肠腔的小肠肠系膜中描绘的稀罕疾病。因为它最经常发生在肠并且不能被上面的胃的内视镜检查法或结肠镜检查检测，并且象 X 光检查和计算机化的断层摄影术(CT ) 那样的普通图象考试的值被限制 IL 的诊断是困难的，通常需要外科的帮助。囊内视镜检查法在诊断肠的疾病是有用的，例如 IL。我们这里在为在最后二十年伴有腹泻和腹的疼痛，并且十天以前加重了的周期性的浮肿的抱怨被招收的一个女病人报导 IL 的一个案例。她被 M2A 囊内视镜检查法作为主要 IL 诊断并且由外科、病理学的检查证实了。展开更多
A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennek...A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.展开更多
We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropath...We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropathy. The patient presented with a grand mal seizure caused by malabsorption-derived electrolytes and a protein disorder. Signs of the disease, including chronic diarrhea and peripheral edema, manifested10 years ago, but a diagnosis was never made. The diagnosis was suspected because of the clinical manifestations, laboratory tests, imaging and endoscopic findings. Hyperemic and edematous mucosa of the small intestine corresponded to scattered white spots with dilated intestinal lymphatics and whitish villi in the histological specimen of the biopsied jejunal mucosa.Although numerous therapeutic strategies are available,only octreotide therapy proved to be an effective means of therapeutic resolution in this patient. Although the patient had a partial remission following the use of a slow release formula of octreotide, his prognosis, clinical course, and future treatment challenges are yet to be determined.展开更多
INTESTINAL lymphangiectasia (IL) is a rare disease first reported by Waldmanin in 1961.1 Since then, no more than two hundred cases have been reported.
Intestinal lymphangiectasia(IL) is an uncommon protein losing enteropathy, characterized by small intestinal mucosa or serosa lymphangiectasia and intestine lymph loss. Currently, IL is a very rare disease in children...Intestinal lymphangiectasia(IL) is an uncommon protein losing enteropathy, characterized by small intestinal mucosa or serosa lymphangiectasia and intestine lymph loss. Currently, IL is a very rare disease in children or adults, with typical clinical symptoms including hypoalbuminemia, absolute lymphocyte reduction, ascites, edema, etc. We report a case of an adult with intestinal lymphatic ectasia accompanied by chylothorax and multiply arteriovenous malformations of the hip and lower extremity. CT and MRI revealed diffuse edema and thickening of the small intestine, accompanied by splenomegaly and pleural effusion. Extensive nodularity of lower ileum and the ileocecal region could be seen during intestinal endoscopy. Finally, small intestinal lamina propria lymphangiectasis was confirmed by pathological examination. To raise awareness of the disease, here we compare our case and those previously reported, and discuss the diagnosis and management of IL.展开更多
文摘BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.AIM To enhance understanding by investigating clinical presentation,diagnosis,treatment,complications,and prognoses in adult PIL cases.METHODS We enrolled adult patients diagnosed with PIL between March 2016 and September 2021.The primary outcome involved examining the diagnosis and treatment process of these patients.The secondary outcomes included identifying complications(infections,thromboembolism)and assessing prognoses(frequency of hospitalization and mortality)during the follow-up period.RESULTS Among the 12 included patients,peripheral edema(100%)and diarrhea(75%)were the main presenting complaints.Laboratory tests showed that all the pati-ents exhibited symptoms of hypoalbuminemia and hypogammaglobulinemia.Radiologically,the predominant findings were edema of the small intestine(67%)and ascites(58%).The typical endoscopic finding with a snowflake appearance was observed in 75%of patients.Among the 12 patients,two responded positive-ly to octreotide and sirolimus,and eight who could undergo maintenance therapy discontinued subsequently.Complications due to PIL led to infection in half of the patients,thromboembolism in three patients,and one death.CONCLUSION PIL can be diagnosed in adults across various age groups,with different severity and treatment responses among patients,leading to diverse complications and prognoses.Consequently,tailored treatments will be necessary.We anticipate that our findings will contribute to the management of PIL,an etiology of protein-losing enteropathy.
基金The Wu Jieping Medical Foundation Clinical Research Special Grant Fund in China,No.320.6750.2022-15-9.
文摘BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.
文摘Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial def inition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fe- cal alpha-1-antitrypsin levels, while others may present with iron def iciency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed moreextensive changes along the length of the small intes- tine. A critical diagnostic element in adults with lym- phangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or in? am- matory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. Treatment has been historically def ined to include a low fat diet with medium-chain triglyceride supplementation that leads to portal venous rather than lacteal uptake. A number of other pharma- cological measures have been reported or proposed but these are largely anecdotal. Finally, rare reports of localized surgical resection of involved areas of small intestine have been described but follow-up in these cases is often limited. 2011 Baishideng. All rights reserved.
文摘Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lymphopenia and hypogammaglobulinemia,and present with bilateral lower limb edema,fatigue,abdominal pain and diarrhea.Endoscopy reveals diffusely elongated,circumferential and polypoid mucosae covered with whitish enlarged villi,all of which indicate intestinal lymphangiectasia.Diagnosis is conf irmed by characteristic tissue pathology,which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi.The prevalence of PIL has increased since the introduction of capsule endoscopy.The etiology and prevalence of PIL remain unknown.Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL.We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25.The relationship between this deletion on chromosome 4 and PIL remains to be investigated.
文摘Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis.
文摘BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case reports were published within the last 10 years,pointing towards an underestimation of the true prevalence.The association with female hormone status warrants further investigation.
文摘Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Commonly,lymphangiectasia presents as whitish spots or specks.To our knowledge,small bowel bleeding resulting from polypoid intestinal lymphangiectasia has not been reported.Here,we report a rare case of active bleeding from the small bowel caused by polypoid lymphangiectasia with a review of the relevant literature.An 80-year-old woman was hospitalized for melena.Esophagogastroduodenoscopy could not identify the source of bleeding.Subsequent colonoscopy showed fresh bloody material gushing from the small bowel.An abdominal-pelvic contrast-enhanced computed tomography scan did not reveal any abnormal findings.Video capsule endoscopy showed evidence of active and recent bleeding in the ileum.To localize the bleeding site,we performed double balloon enteroscopy by the anal approach.A small,bleeding,polypoid lesion was found in the distal ileum and was successfully removed using endoscopic snare electrocautery.
文摘BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare congenital protein-losing enteropathy caused by dysplasia of the small intestinal lymphatics.The cause of the disease is unknown.Through a literature review,we found that PIL and tuberous sclerosis complex(TSC)have some common symptoms and molecular pathways.CASE SUMMARY Here,we present the case of a patient with a three-year history of primary intestinal lymphangiectasia.The patient most recently visited the hospital with abdominal distension and swelling of the left leg.His mother told us that she was diagnosed with TSC one year previously,which alerted us because the patient had multiple regions of pigmentation.To evaluate the condition of the child and make a definite diagnosis,multiple imaging examinations were performed,as was TSC gene analysis.The results met the diagnostic criteria for TSC.The patient was discharged after symptomatic treatment.Through a review of the literature,it can be seen that changes at the molecular gene level of TSC can lead to abnormal lymphatic vessels.CONCLUSION In summary,when patients with hypomelanotic macules or enamel hypoplasia are diagnosed with PIL,TSC gene screening may be important for further diagnosis.
文摘Primary intestinal lymphangiectasia(PIL) is a rare protein-losing enteropathy with lymphatic leakage into the small intestine. Dilated lymphatics in the small intestinal wall and mesentery are observed in this disease. Laboratory tests of PIL patients revealed hypoalbuminemia, lymphocytopenia, hypogammaglobulinemia and increased stool α-1 antitrypsin clearance. Cell-mediated immunodeficiency is also present in PIL patients because of loss of lymphocytes. As a result, the patients are vulnerable to chronic viral infection and lymphoma. However, cases of PIL with chronic viral infection, such as human papilloma virus-induced warts, are rarely reported. We report a rare case of PIL with generalized warts in a 36-year-old male patient. PIL was diagnosed by capsule endoscopy and colonoscopic biopsy with histological tissue confirmation. Generalized warts were observed on the head, chest, abdomen, back, anus, and upper and lower extremities, including the hands and feet of the patient.
文摘The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat diet improved liver fibrosis.We report the case of a 17-year-old girl affected by PIL whose hepatic fibrosis progressively worsened within one year,despite dietetic support.This and the previous case report describe extraordinary events,which do not allow clear-cut clinical aspects to be established.Nevertheless,both cases suggest that in patients with PIL,it is necessary to closely monitor liver morphology with in-depth investigations including not only ultrasonography,but also elastography.
基金Supported by National Natural Science Foundation of China,No.61876216Beijing Shijitan Hospital Foundation of Capital Medical University,No.2019-LB12.
文摘BACKGROUND The appearance of the intestinal mucosa during endoscopy varies among patients with primary intestinal lymphangiectasia(PIL).AIM To classify the endoscopic features of the intestinal mucosa in PIL under endoscopy,combine the patients’imaging and pathological characteristics of the patients,and explain their causes.METHODS We retrospectively analyzed the endoscopic images of 123 patients with PIL who were treated at the hospital between January 1,2007 and December 31,2018.We compared and analyzed all endoscopic images,classified them into four types according to the endoscopic features of the intestinal mucosa,and analyzed the post-lymphographic computed tomography(PLCT)and pathological characteristics of each type.RESULTS According to the endoscopic features of PIL in 123 patients observed during endoscopy,they were classified into four types:nodular-type,granular-type,vesicular-type,and edematous-type.PLCT showed diffuse thickening of the small intestinal wall,and no contrast agent was seen in the small intestinal wall and mesentery in the patients with nodular and granular types.Contrast agent was scattered in the small intestinal wall and mesentery in the patients with vesicular and edematous types.Analysis of the small intestinal mucosal pathology revealed that nodular-type and granulartype lymphangiectasia involved the small intestine mucosa in four layers,whereas ectasia of the vesicular-and edematous-type lymphatic vessels largely involved the lamina propria mucosae,submucosae,and muscular layers.CONCLUSION Endoscopic classification,combined with the patients’clinical manifestations and pathological examination results,is significant and very useful to clinicians when scoping patients with suspected PIL.
文摘BACKGROUNDThe renal system has a specific pleural effusion associated with it in the form of“urothorax”, a condition where obstructive uropathy or occlusion of thelymphatic ducts leads to extravasated fluids (urine or lymph) crossing thediaphragm via innate perforations or lymphatic channels. As a rare disorder thatmay cause pleural effusion, renal lymphangiectasia is a congenital or acquiredabnormality of the lymphatic system of the kidneys. As vaguely mentioned in areport from the American Journal of Kidney Diseases, this disorder can be causedby extrinsic compression of the kidney secondary to hemorrhage.CASE SUMMARYA 54-year-old man with biopsy-proven acute tubulointerstitial nephropathyexperienced bleeding 3 d post hoc, which, upon clinical detection, manifested as amassive perirenal hematoma on computed tomography (CT) scan withoutconcurrent pleural effusion. His situation was eventually stabilized byexpeditious management, including selective renal arterial embolization. Despite good hemodialysis adequacy and stringent volume control, a CT scan 1 mo laterfound further enlargement of the perirenal hematoma with heterogeneoushypodense fluid, left side pleural effusion and a small amount of ascites. Thesefluid collections showed a CT density of 3 Hounsfield units, and drained fluid ofthe pleural effusion revealed a dubiously light-colored transudate withlymphocytic predominance (> 80%). Similar results were found 3 mo later, duringwhich time the patient was free of pulmonary infection, cardiac dysfunction andovert hypoalbuminemia. After careful consideration and exclusion of otherpossible causative etiologies, we believed that the pleural effusion was due to theocclusion of renal lymphatic ducts by the compression of kidney parenchymaand, in the absence of typical dilation of the related ducts, considered our case asextrarenal lymphangiectasia in a broad sense.CONCLUSIONAs such, our case highlighted a morbific passage between the kidney and thoraxunder an extraordinarily rare condition. Given the paucity of pertinentknowledge, it may further broaden our understanding of this rare disorder.
文摘BACKGROUND Primary intestinal lymphangiectasia(PIL)is a rare protein-losing enteropathy characterized by abnormally dilated lymphatic structures,resulting in leakage of lymph(rich in protein,lymphocytes,and fat)from the intestinal mucosal and submucosal layers and thus hypoproteinemia,lymphopenia,hypolipidemia,and pleural effusion.CASE SUMMARY A 19-year-old Chinese male patient complained of recurrent limb convulsions for the last 1 year.Laboratory investigations revealed low levels of calcium and magnesium along with hypoproteinemia and high parathyroid hormone levels,whereas gastroscopy exhibited chronic non-atrophic gastritis and duodenal lymphatic dilatation.Subsequent gastric biopsy showed moderate chronic inflammatory cell infiltration distributed around a small mucosal patch in the descending duodenum followed by lymphatic dilatation in the mucosal lamina propria,which was later diagnosed as PIL.The following appropriate mediumchain triglycerides nutritional support significantly improved the patient’s symptoms.CONCLUSION Since several diseases mimic the clinical symptoms displayed by PIL,like limb convulsions,low calcium and magnesium,and loss of plasma proteins,it is imperative to conduct a detailed analysis to avoid any misdiagnosis while pinpointing the correct clinical diagnosis and simultaneously ruling out other clinical aspects in the reported cases without any past disease history.A careful assessment should always be made to ensure an accurate diagnosis in a timely manner so that the patient can be delivered quality health services for a positive health outcome.
文摘Objective To discuss the characters and management of renal lymphangiectasia. Methods The clinical data of two cases of renal lymphangiectasia were reviewed. The first patient was a 37-year-old woman with chief complaint of lumbago in the right flank for 8 days. B-ultrasound showed mixed echo in perinephric space.
文摘肠的 lymphangiectasia (IL ) 是扩大淋巴的 vessles 在肠的墙和导致蛋白质和淋巴细胞的损失进肠腔的小肠肠系膜中描绘的稀罕疾病。因为它最经常发生在肠并且不能被上面的胃的内视镜检查法或结肠镜检查检测，并且象 X 光检查和计算机化的断层摄影术(CT ) 那样的普通图象考试的值被限制 IL 的诊断是困难的，通常需要外科的帮助。囊内视镜检查法在诊断肠的疾病是有用的，例如 IL。我们这里在为在最后二十年伴有腹泻和腹的疼痛，并且十天以前加重了的周期性的浮肿的抱怨被招收的一个女病人报导 IL 的一个案例。她被 M2A 囊内视镜检查法作为主要 IL 诊断并且由外科、病理学的检查证实了。
文摘A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.
文摘We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropathy. The patient presented with a grand mal seizure caused by malabsorption-derived electrolytes and a protein disorder. Signs of the disease, including chronic diarrhea and peripheral edema, manifested10 years ago, but a diagnosis was never made. The diagnosis was suspected because of the clinical manifestations, laboratory tests, imaging and endoscopic findings. Hyperemic and edematous mucosa of the small intestine corresponded to scattered white spots with dilated intestinal lymphatics and whitish villi in the histological specimen of the biopsied jejunal mucosa.Although numerous therapeutic strategies are available,only octreotide therapy proved to be an effective means of therapeutic resolution in this patient. Although the patient had a partial remission following the use of a slow release formula of octreotide, his prognosis, clinical course, and future treatment challenges are yet to be determined.
基金Supported by the Shanghai Leading Academic Discipline Project(J50305)
文摘INTESTINAL lymphangiectasia (IL) is a rare disease first reported by Waldmanin in 1961.1 Since then, no more than two hundred cases have been reported.
基金Supported by grants of Natural Science Foundation of China(No.81271529)Natural Science Foundation of Hubei Province,China(No.2014CFB298)Health and Family Planning Research of Hubei Provincial(No.WJ2015MB066)
文摘Intestinal lymphangiectasia(IL) is an uncommon protein losing enteropathy, characterized by small intestinal mucosa or serosa lymphangiectasia and intestine lymph loss. Currently, IL is a very rare disease in children or adults, with typical clinical symptoms including hypoalbuminemia, absolute lymphocyte reduction, ascites, edema, etc. We report a case of an adult with intestinal lymphatic ectasia accompanied by chylothorax and multiply arteriovenous malformations of the hip and lower extremity. CT and MRI revealed diffuse edema and thickening of the small intestine, accompanied by splenomegaly and pleural effusion. Extensive nodularity of lower ileum and the ileocecal region could be seen during intestinal endoscopy. Finally, small intestinal lamina propria lymphangiectasis was confirmed by pathological examination. To raise awareness of the disease, here we compare our case and those previously reported, and discuss the diagnosis and management of IL.
