Autosomal rezessive Hypercholesterinämie (ARH) wird durch Mutationen im LDLRAP1-Gen hervorgerufen. Die Bezeichnung ARH ist etwas veraltet. Inzwischen wissen wir das Mutationen in allen Genen des Fettstoffwechsels zu einer Störung beitragen können. Je mehr Gene betroffen und je schwerer die Mutationen, desto stärker die klinische Ausprägung.
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