Objectives: It is to determine the prevalence of familial hypercholesterolemia (FH) among adult Filipino patients with dyslipidemia at Universidad de Santa Isabel Health Services Department in one year. Methods: An ob...Objectives: It is to determine the prevalence of familial hypercholesterolemia (FH) among adult Filipino patients with dyslipidemia at Universidad de Santa Isabel Health Services Department in one year. Methods: An observational descriptive prospective study involves Filipino patients, aged 19 years and older, with dyslipidemia. The Dutch Lipid Network (DLN) Criteria was used to diagnose FH. Prevalence data and categorical variables were expressed as percentages, while continuous variables were reported as mean and standard deviations. Results: 529 patients were included in the study. 302 were females, and 227 were males. 180 (34%) scored Unlikely, 100 (19%) scored Probable, 185 (35%) scored Possible, and 64 (12%) were classified under Definite Familial Hypercholesterolemia. Most of the patients diagnosed with definite FH did not have diabetes, cerebrovascular disease (CVD), and coronary artery disease (CAD). The diagnosis was not affected by gender, BMI, smoking, and alcohol consumption. Hypertension was significantly correlated to the diagnosis of FH, as most of them were already hypertensive at diagnosis. It was noted that hypertension, diabetes, CVD, and CAD were seen at an earlier age among patients with definite FH. Conclusion: The prevalence of heterozygous FH at 12% among dyslipidemia patients and 1.3% among the general population was described for the first time in our region. This result should raise the awareness of our healthcare providers that FH, which is a major risk factor for premature CAD and CVD, exists, and early detection and management are important.展开更多
Objective:To investigate the clinical characteristics of familial hypercholesterolemia and early-onset acute coronary syndrome(ACS),in order to improve the understanding and diagnosis and treatment of the disease.Meth...Objective:To investigate the clinical characteristics of familial hypercholesterolemia and early-onset acute coronary syndrome(ACS),in order to improve the understanding and diagnosis and treatment of the disease.Methods:We retrospectively studied the clinical data of 2 patients with familial hypercholesterolemia and premature acute coronary syndrome treated in the Department of Cardiology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology.All patients underwent genetic testing and coronary artery angiography.Results:Two patients were heterozygous familial hypercholesterolemia by gene test.Coronary artery angiography showed that three coronary arteries had serious lesions,which recovered well after drug and surgical treatment.Conclusion:Patients with familial hypercholesterolemia were prone to early onset of acute coronary syndrome,which should be identified,diagnosed and treated as soon as possible.展开更多
Familial hypercholesterolemia (FH) is one of the most prevalent autosomal dominant inherited disorders. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APO...Familial hypercholesterolemia (FH) is one of the most prevalent autosomal dominant inherited disorders. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report on an Azorean family with FH due to a novel mutation in the LDLR gene across three generations. The index-case was first seen at our endocrinology consultation at 12 years old, because of delayed growth and development. Laboratorial investigations revealed a complete failure of the anterior hypophysis due to a congenital malformation of the sella turcica. A total cholesterol of 313 mg/dL (90 - 190 mg/dL) and low-density lipoprotein cholesterol (LDL-C) of 262 mg/dL (<115 mg/dL) was found in routine blood tests. There was a paternal history of hypercholesterolemia, corneal arcus and myocardial infarction at an early age. Screening for mutations in LDLR gene was carried out. In the affected cases, an intronic heterozygous point mutation (c.818-3C > G) causing a premature termination of transcription (stop codon) was identified.展开更多
Background:Familial hypercholesterolemia(FH)is underrecognized,and its association with coronary artery disease(CAD)remains limited,especially in China.We aimed to investigate the prevalence of FH and its relationship...Background:Familial hypercholesterolemia(FH)is underrecognized,and its association with coronary artery disease(CAD)remains limited,especially in China.We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort.Methods:FH was defined using the Make Early Diagnosis to Prevent Early Death(MEDPED)criteria.The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China(China-PAR)project during 2007−2008.The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up(2018−2020).Results:Among 98,885 included participants,190 participants were defined as FH.Crude and age−sex standardized prevalence and 95%confidence interval(CI)of FH were 0.19%(0.17%-0.22%)and 0.13%(0.10%-0.16%),respectively.The prevalence varied across age groups and peaked in the group of 60-<70 years(0.28%),and the peak prevalence(0.18%)in males was earlier,yet lower than the peak crude prevalence in females(0.41%).During a mean follow-up of 10.7 years,2493 cases of incident CAD were identified.After multivariate adjustment,FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants.Conclusions:The prevalence of FH was estimated to be 0.19%in the participants,and it was associated with an elevated risk of incident CAD.Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.展开更多
BACKGROUND Familial hypercholesterolemia(FH)is an autosomal dominant disorder that is characterized by severely increased low-density lipoprotein(LDL)cholesterol levels.At the same time,elevated LDL levels accelerated...BACKGROUND Familial hypercholesterolemia(FH)is an autosomal dominant disorder that is characterized by severely increased low-density lipoprotein(LDL)cholesterol levels.At the same time,elevated LDL levels accelerated the development of coronary heart disease.Several classes of drugs are currently in use to treat FH.Proprotein convertase subtilisin/kexin type 9 inhibitor(PCSK9i)is novel one of these.CASE SUMMARY This manuscript reports a case of FH that responded modestly after treatment with PCSK9i and statin drugs.Of even more concern is that the patient frequently admitted to the hospital during a 12-year follow-up period.Subsequently,we identified a heterozygous mutation,1448G>A(W483X)of the LDL receptor(LDLR)in this patient.The serum levels of PCSK9(proprotein convertase subtilisin/kexin type 9)in the patient was 71.30±26.66 ng/mL,which is close the average level reported in the literature.This LDLR mutation affects LDLR metabolism or structure,which may make it unsuitable for use of PCSK9i.CONCLUSION Our outcome demonstrates that LDLR-W483X represents a partial loss-of-function LDLR and may contribute to PCSK9i ineffective. In the meanwhile, additional measures aretherefore required (particularly with gene sequencing or change the treatment plan) must beinitiated as early as possible. Genetic testing for clinically challenging cases who do not respond toPCSK9i therapy is very helpful.展开更多
文摘Objectives: It is to determine the prevalence of familial hypercholesterolemia (FH) among adult Filipino patients with dyslipidemia at Universidad de Santa Isabel Health Services Department in one year. Methods: An observational descriptive prospective study involves Filipino patients, aged 19 years and older, with dyslipidemia. The Dutch Lipid Network (DLN) Criteria was used to diagnose FH. Prevalence data and categorical variables were expressed as percentages, while continuous variables were reported as mean and standard deviations. Results: 529 patients were included in the study. 302 were females, and 227 were males. 180 (34%) scored Unlikely, 100 (19%) scored Probable, 185 (35%) scored Possible, and 64 (12%) were classified under Definite Familial Hypercholesterolemia. Most of the patients diagnosed with definite FH did not have diabetes, cerebrovascular disease (CVD), and coronary artery disease (CAD). The diagnosis was not affected by gender, BMI, smoking, and alcohol consumption. Hypertension was significantly correlated to the diagnosis of FH, as most of them were already hypertensive at diagnosis. It was noted that hypertension, diabetes, CVD, and CAD were seen at an earlier age among patients with definite FH. Conclusion: The prevalence of heterozygous FH at 12% among dyslipidemia patients and 1.3% among the general population was described for the first time in our region. This result should raise the awareness of our healthcare providers that FH, which is a major risk factor for premature CAD and CVD, exists, and early detection and management are important.
基金National natural science foundation project(No.81873518)。
文摘Objective:To investigate the clinical characteristics of familial hypercholesterolemia and early-onset acute coronary syndrome(ACS),in order to improve the understanding and diagnosis and treatment of the disease.Methods:We retrospectively studied the clinical data of 2 patients with familial hypercholesterolemia and premature acute coronary syndrome treated in the Department of Cardiology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology.All patients underwent genetic testing and coronary artery angiography.Results:Two patients were heterozygous familial hypercholesterolemia by gene test.Coronary artery angiography showed that three coronary arteries had serious lesions,which recovered well after drug and surgical treatment.Conclusion:Patients with familial hypercholesterolemia were prone to early onset of acute coronary syndrome,which should be identified,diagnosed and treated as soon as possible.
文摘Familial hypercholesterolemia (FH) is one of the most prevalent autosomal dominant inherited disorders. Mutations have been found in at least 3 genes: the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9). We report on an Azorean family with FH due to a novel mutation in the LDLR gene across three generations. The index-case was first seen at our endocrinology consultation at 12 years old, because of delayed growth and development. Laboratorial investigations revealed a complete failure of the anterior hypophysis due to a congenital malformation of the sella turcica. A total cholesterol of 313 mg/dL (90 - 190 mg/dL) and low-density lipoprotein cholesterol (LDL-C) of 262 mg/dL (<115 mg/dL) was found in routine blood tests. There was a paternal history of hypercholesterolemia, corneal arcus and myocardial infarction at an early age. Screening for mutations in LDLR gene was carried out. In the affected cases, an intronic heterozygous point mutation (c.818-3C > G) causing a premature termination of transcription (stop codon) was identified.
基金National High Level Hospital Clinical Research Funding,Grant/Award Numbers:2022-GSP-GG-1,2022-GSP-GG-2National Natural Science Foundation of China,Grant/Award Numbers:12126602,82030102,91857118+1 种基金National Clinical Research Center for Cardiovascular Diseases,Fuwai Hospital,Chinese Academy of Medical Sciences,Grant/Award Number:NCRC2020006Chinese Academy of Medical Sciences(CAMS)Innovation Fund for Medical Sciences,Grant/Award Numbers:2019-I2M-2-003,2021-I2M-1-010。
文摘Background:Familial hypercholesterolemia(FH)is underrecognized,and its association with coronary artery disease(CAD)remains limited,especially in China.We aimed to investigate the prevalence of FH and its relationship with CAD in a large Chinese cohort.Methods:FH was defined using the Make Early Diagnosis to Prevent Early Death(MEDPED)criteria.The crude and age-sex standardized prevalence of FH were calculated based on surveys of the Prediction for Atherosclerotic Cardiovascular Disease Risk in China(China-PAR)project during 2007−2008.The associations of FH with incident CAD and its major subtypes were estimated with the cohort-stratified multivariate Cox proportional hazard models based on the data from the baseline to the last follow-up(2018−2020).Results:Among 98,885 included participants,190 participants were defined as FH.Crude and age−sex standardized prevalence and 95%confidence interval(CI)of FH were 0.19%(0.17%-0.22%)and 0.13%(0.10%-0.16%),respectively.The prevalence varied across age groups and peaked in the group of 60-<70 years(0.28%),and the peak prevalence(0.18%)in males was earlier,yet lower than the peak crude prevalence in females(0.41%).During a mean follow-up of 10.7 years,2493 cases of incident CAD were identified.After multivariate adjustment,FH patients had a 2.03-fold greater risk of developing CAD compared to non-FH participants.Conclusions:The prevalence of FH was estimated to be 0.19%in the participants,and it was associated with an elevated risk of incident CAD.Our study suggests that early screening of FH has certain public health significance for the prevention of CAD.
基金the Doctor Start-up fund of Jiangxi provincial People's Hospital,The First Affiliated Hospital of Nanchang Medical College,No.19-236.
文摘BACKGROUND Familial hypercholesterolemia(FH)is an autosomal dominant disorder that is characterized by severely increased low-density lipoprotein(LDL)cholesterol levels.At the same time,elevated LDL levels accelerated the development of coronary heart disease.Several classes of drugs are currently in use to treat FH.Proprotein convertase subtilisin/kexin type 9 inhibitor(PCSK9i)is novel one of these.CASE SUMMARY This manuscript reports a case of FH that responded modestly after treatment with PCSK9i and statin drugs.Of even more concern is that the patient frequently admitted to the hospital during a 12-year follow-up period.Subsequently,we identified a heterozygous mutation,1448G>A(W483X)of the LDL receptor(LDLR)in this patient.The serum levels of PCSK9(proprotein convertase subtilisin/kexin type 9)in the patient was 71.30±26.66 ng/mL,which is close the average level reported in the literature.This LDLR mutation affects LDLR metabolism or structure,which may make it unsuitable for use of PCSK9i.CONCLUSION Our outcome demonstrates that LDLR-W483X represents a partial loss-of-function LDLR and may contribute to PCSK9i ineffective. In the meanwhile, additional measures aretherefore required (particularly with gene sequencing or change the treatment plan) must beinitiated as early as possible. Genetic testing for clinically challenging cases who do not respond toPCSK9i therapy is very helpful.
