Is the clinical criteria important for patient identification in FH patients?

• Author(s): Alves, A.C. ; Medeiros, A.M. ; Berguete, S. ; Bourbon, M.
• Date: 2012
• Persistent ID: http://hdl.handle.net/10400.18/904
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Doenças Cardio e Cérebro-vasculares
• Document Type: Conference Object
• Language: English

Description

Familial hypercholesterolaemia (FH) is an inherited disorder of cholesterol metabolism with increased cardiovascular risk. The molecular basis of FH is well understood and the molecular diagnosis is extensively applied. There are several clinical criteria for the diagnosis of FH. The three criteria most applied worldwide have been proposed by the Simon Broome Register Group, the USA Make Early Diagnosis to Prevent Early Death (MEDPED) Program, and the Dutch MEDPED Program. The clinical diagnosis of FH is usually obtained by combining evidence from clinical history, physical signs, biochemical markers and family history. The Dutch MEDPED criteria (DMP) is more specific and is based on a score system, the Simon Broome criteria (SB) and the USA MEDPED criteria (MP) are more broad. Although all of them are based on personal and family clinical history of premature coronary artery disease (CAD) and plasma cholesterol levels, they use different specifications and SB have a cutoff for children under 16 years and other for adults (>16 years). SB and DMP criteria are the most used worldwide.