| Literature DB >> 11812815 |
P J Marang-van de Mheen1, M C van Maarle, M E A Stouthard.
Abstract
Heterozygous familial hypercholesterolaemia (FH) is a common autosomal dominant inherited metabolic disease with a prevalence of 1 in 500 in most Western countries. People with FH experience an increased risk for coronary artery disease (CAD) and excess mortality especially at a young age. Until recently the diagnosis of FH was based on clinical signs and symptoms alone. These included increased cholesterol concentrations, in particular of LDL-cholesterol, in combination with the presence of tendon xanthoma, corneal arcus, xanthelasmata and a history of early CAD. Frequently FH was diagnosed after a first cardiac event.Entities:
Mesh:
Year: 2002 PMID: 11812815 PMCID: PMC1732084 DOI: 10.1136/jech.56.2.145
Source DB: PubMed Journal: J Epidemiol Community Health ISSN: 0143-005X Impact factor: 3.710