FAMILIAL HYPERCHOLESTEROLAEMIA- REPORT OF A FAMILY

نویسندگان
چکیده

منابع مشابه

Familial Lichen Planus: Report of 4 cases in a family

Although lichen planus is a fairly common disorder, its familial occurrence is uncommon and varies between 1.5 and 10.7%. In most reports, only two or three members of the family have had disease but occasionally more family members may be affected. We present a case of lichen planus, whose father, mother, and maternal aunt also had this disease.

متن کامل

Familial hypercholesterolaemia in Portugal.

Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of ...

متن کامل

Discovering familial hypercholesterolaemia.

The CPD paper trail is prohibitively expensive, and the Board has determined that the publishing division must contain costs. I am sorry that my comments came across as ‘hard cheese’ – that was not intended. We had anticipated difficulties with the new process and have not been disappointed. Emily Nel at the SAMA Western Cape Branch has indicated her willingness to enter the questionnaires on b...

متن کامل

Familial 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 کامل

Genetic Architecture of Familial Hypercholesterolaemia

PURPOSE OF REVIEW Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS Mutations in any of three genes (LDLR, APO...

متن کامل

ذخیره 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: Journal of Evolution of Medical and Dental Sciences

سال: 2018

ISSN: 2278-4748

DOI: 10.14260/jemds/2018/350