Familial hypercholesterolemia

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Description from OMIM

Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound to low density lipoprotein (LDL), which promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis). The disorder occurs in 2 clinical forms: homozygous and heterozygous (summary by Hobbs et al., 1992).



Prevalence of clinical parameters (%)







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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypercholesterolemia circulatory 100 % 21663647 2012-01-18
Xanthomas integumentary 21 % 21663647 2012-01-18
Ischaemic heart disease circulatory 20 % 21663647 2012-01-18
Hypertension circulatory 15 % 21663647 2012-01-18
Diabetes mellitus type 2 endocrine 2 % 21663647 2012-01-18



List of references:


Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART).
Nelva Mata, Rodrigo Alonso, Lina Badimón, Teresa Padró, Francisco Fuentes, Ovidio Muñiz, Francisco Perez-Jiménez, José López-Miranda, Jose L Díaz, Jose I Vidal, A Barba, Mar Piedecausa, Juan F Sanchez, Luis Irigoyen, Eliseo Guallar, José M Ordovas, Pedro Mata,

Familial hypercholesterolemia (FH) patients are at high risk for premature coronary heart disease (CHD). Despite the use of statins, most patients do not achieve an optimal LDL-cholesterol goal. The aims of this study are to describe baseline characteristics and to evaluate Lipid Lowering Therapy (LLT) in FH patients recruited in SAFEHEART.

Lipids in health and disease - Jun 2011