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.
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Authors | P J Marang-van de Mheen, M C van Maarle, M E A Stouthard |
Journal | Journal of epidemiology and community health
(J Epidemiol Community Health)
Vol. 56
Issue 2
Pg. 145-7
(Feb 2002)
ISSN: 0143-005X [Print] England |
PMID | 11812815
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Topics |
- Adult
- Female
- Genetic Testing
(legislation & jurisprudence)
- Guideline Adherence
- Health Education
- Humans
- Hyperlipoproteinemia Type II
(diagnosis, genetics)
- Insurance, Health
(legislation & jurisprudence)
- Insurance, Life
(legislation & jurisprudence)
- Male
- Middle Aged
- Netherlands
- Physical Examination
(standards)
- Practice Guidelines as Topic
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