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[Familial hypercholesterolemia]
E Windler1, F-U Beil, C Altenburg
1Endokrinologie und Stoffwechsel des Alterns, Universitätsklinikum Hamburg Eppendorf. Windler@uke.de
Insights
Familial hypercholesterolemia, a common genetic disorder, often goes undiagnosed despite clear indicators. Early diagnosis and treatment are crucial to prevent severe cardiovascular events and enable cascade screening in families.
Area of Science:
- Endocrinology and Metabolism
- Genetics
- Cardiovascular Medicine
Context:
- Familial hypercholesterolemia (FH) is a prevalent inherited metabolic disorder.
- Untreated FH leads to severe cardiovascular complications due to lifelong high cholesterol levels.
- General practitioners encounter potential FH cases monthly but often miss the diagnosis.
Purpose:
- To highlight the diagnostic indicators of familial hypercholesterolemia.
- To emphasize the importance of early diagnosis and treatment initiation.
- To underscore the missed opportunity for cascade screening in affected families.
Summary:
- Familial hypercholesterolemia is suspected with LDL-cholesterol ≥ 190 mg/dl, family history of premature cardiovascular disease, or clinical signs like arcus lipoides or xanthomata.
- Early statin therapy has improved treatment, but successful cholesterol lowering can mask the underlying genetic disorder.
- Failure to diagnose FH prevents crucial preventive measures for relatives, especially children.
Impact:
- Increased awareness can lead to earlier diagnosis and intervention for FH patients.
- Timely treatment can significantly reduce the risk of premature cardiovascular disease.
- Effective cascade screening can identify and manage at-risk family members, preventing inherited hypercholesterolemia complications.
Abstract:
Familial hypercholesterolemia is one of the most common hereditary metabolic disorders, untreated with grave cardiovascular consequences. A general practitioner will see at least one affected individual each month, but will rarely be aware of the diagnosis, though it is easily suspected: an LDL-cholesterol ≥ 190 mg/dl, a family history of premature cardiovascular disease, or clinical signs as arcus lipoides, tendinous xanthomata, or a thickened Achilles' tendon must draw the attention to familial hypercholesterolemia. Because of the burden of high cholesterol levels from childhood on therapy should be initiated early enough, which has become greatly ameliorated since the introduction of statins. In conjunction with additional risk factors, notably low HDL-cholesterol or elevated lipoprotein(a) the cardiovascular sequelae can be dramatic and may call for more intense therapies. However, often the routine of successful cholesterol lowering covers the diagnosis nowadays, so that a heritable metabolic disorder is not suspected, which, however, prevents an effective prevention in relatives, particularly the children of the patient.
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