Homozygous familial hypercholesterolemia: Case report and review of literature
نویسندگان
چکیده
Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early atherosclerotic cardiac lesions such as aortic stenosis. Management of HoFH patients requires lifestyle modifications and medical therapy.
منابع مشابه
Familial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
متن کاملFamilial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
متن کاملProphylactic gastrectomy in familial gastric cancer: case report and review of literature
Absract Gastric cancer is the fourth most common cancer and the second leading cause of cancer death. Most cases are sporadic and only 10% of patients, show familial clustering. Among these patients, 1 to 3 % have hereditary diffuse gastric cancer (HDGC), which is autosomal-dominant and present in younger ages. Mutations in Ecadherin gene CDH1 has been identified in 30 to 50% of patient...
متن کاملFAMILIAL COLLOID CYST OF THE THIRD VENTRICLE: A CASE REPORT AND REVIEW OF THE LITERATURE
Familial colloid cyst of the third ventricle is very rare. This is one of the two largest families reported and the first in which all affected members are siblings. One asymptomatic sister was found by screening, emphasizing the value of screening. A brother and two sisters from a family consisting of three brothers and three sisters who were diagnosed as having colloid cyst of the third v...
متن کاملSitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.
A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she su...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره شماره
صفحات -
تاریخ انتشار 2014