Diffuse Involvement of Aorta in Patient with Familial Hyperlipidemia
نویسندگان
چکیده
منابع مشابه
Diffuse Involvement of Aorta in Patient with Familial Hyperlipidemia
Familial hyperlipidemia (FH) is an inherited metabolic disorder caused by low-density lipoprotein (LDL) receptor abnormality. The delayed clearance of serum LDL results in severe hypercholesterolemia, which leads to the accumulation of LDL-derived cholesterol in skin, tendons, and arterial walls.In homozygous form of the disease, severely atheromatous involvement of the aorta extending to the c...
متن کاملThe involvement of upstream stimulatory factor 1 in Dutch patients with familial combined hyperlipidemia.
Recently, the upstream stimulatory factor 1 gene (USF1) was proposed as a candidate gene for familial combined hyperlipidemia (FCH). In this study, we examined the previously identified risk haplotype of USF1 with respect to FCH and its related phenotypes in 36 Dutch FCH families. The diagnosis of FCH was based on both the traditional diagnostic criteria and a nomogram. The two polymorphisms, U...
متن کاملFrequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.
amilial combined hyperlipidemia (FCH) is the most comon genetic cause of hyperlipidemia, affecting approxiately 1% of the population. It was first described in the eattle Myocardial Infarction Study in 1973 (1). This ondition is characterized by variable lipid phenotypes increased levels of triglycerides or cholesterol or both lipids) n the proband and in relatives that may vary within an ndivi...
متن کاملLi-fraumeni Syndrome in a Patient with Familial Hyperlipidemia from Western Iran, a Case Report
Mutations of germ-cell line TP53 gene are mainly reported in Li–Fraumeni syndrome(LFS). LFS-associated breast cancers are both hormone receptor and human epidermal growth factor receptor 2 positive. The purpose of this study is presentation of one case of LFS, associated with familial hyperlipidemias. A 52-year-old woman referred to clinic of oncology with a pain in the left breast. Her patholo...
متن کاملliver involvement in a patient with familial mediterranean fever: case report
familialmediterranean fever (fmf) is a hereditary syndrome characterized by recurrent attacks of fever and serositis. liver involvement in fmf has been reported in association with amyloidosis or rarely with vasculitis.in this report, a 32 year-old man with recurrent attacks of fever, abdominal pain and arthralgia is described who had moderate increase in liver transaminases only during disease...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: ISRN Cardiology
سال: 2011
ISSN: 2090-5580,2090-5599
DOI: 10.5402/2011/804767