الفهرس | Only 14 pages are availabe for public view |
Abstract Familial Hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by high levels of LDL-C, and subsequent early CAD development. In northern Europe, the prevalence of FH in the general population is thought to be approximately 1/200 The clinical diagnosis is a very useful tool for general population screening. However, it shows limitations in identifying FH patients with a causing mutation. Genetic diagnosis is the gold standard to identify individuals with FH, and it allows the family screening also in individuals with borderline/moderately high serum LDL-C levels. FH can accelerate the development of coronary artery disease, leading to acute coronary syndrome at very early age. In this subset of patients, routine history taking and physical examination findings such as presence of skin and tendon xanthomas and positive family history can give clues toward the diagnosis of FH. Early diagnosis, aggressive lipid-lowering therapy, and early revascularization are required to prevent further disease-related morbidity and mortality. Recent developments in the study of coronary disease in young adults may provide some guidance to a physician in clinical practice. First of all, it is important to recognize that the clinician caring for a young individual with atherosclerotic coronary disease does not confront a benign condition. There is strong evidence, both from prior epidemiologic cohorts as well as from more recent evaluations, that aggressive risk factor modification can significantly impact risk in this population. Smoking cessation efforts are critical. Also, there is no reason to suspect that our current pharmacologic therapies (ie, aspirin, β-blockers, angiotensin- converting enzyme inhibitors, and statins) have any lower level of efficacy in this patient group. |