Familiäre Hypercholesterinämie

Zusammenfassung

Familiäre Hypercholesterinämie ist eine der häufigsten erblichen Stoffwechselstörungen, die unbehandelt gravierende kardiovaskuläre Folgen hat. Jeder allgemeinmedizinisch tätige Arzt sieht monatlich mindestens einen Betroffenen, meist ohne dies zu ahnen. Dabei ist die Verdachtsdiagnose leicht zu stellen: ein LDL-Cholesterin ≥ 190 mg/dl, eine Familienanamnese ungewöhnlich früher Infarkte oder klinische Zeichen wie ein Arcus lipoides, Sehnenxanthome oder Achillessehnenverdickung müssen den Blick auf die familiäre Hypercholesterinämie lenken. Wegen der Cholesterinbelastung der Arterien seit Kindheit an muss die Therapie ausreichend früh einsetzen, ist aber seit der Verfügbarkeit von Statinen deutlich vereinfacht. In Verbindung mit weiteren Risikofaktoren, insbesondere auch niedrigem HDL-Cholesterin oder hohem Liporotein(a) können die kardiovaskulären Folgen aber auch dramatisch sein und eingreifendere Therapien erfordern. Oft verdeckt aber die heute meist routinemäßig erfolgreiche Cholesterinsenkung die Diagnose, was dazu führt, dass nicht an die Erblichkeit dieser Stoffwechselstörung gedacht wird, was jedoch eine wirksame Prävention bei Angehörigen, insbesondere den Kindern des Patienten verhindert.

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.

Schlüsselwörter

Familiäre Hypercholesterinämie - LDL-Rezeptor - erbliche Stoffwechselstörung - Xanthom - diagnostische Kriterien

Keywords

familial hypercholesterolemia - LDL-Receptor - heritable metabolic disorder - xanthom - diagnostic criteria

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