Familial hypercholesterolemia

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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