Die Tangier Erkrankung wird autosomal codominant vererbt. Die Mutationen des ABCA1-Gens führen zu einem Transportdefekt aus den cholesterinspeichernden Makrophagen. Laborchemisch finden sich deutlich erniedrigte HDL-Spiegel, die bei homzygotem Auftreten bis zum völligen fehlen führen können. Klinisch maniferstiert sich die Erkrankung mit gelben Tonsillen und einer Hepatosplenomegalie. Die Patienten zeigen zudem eine ausgeprägte Neigung zu kardiovaskulären Erkrankungen und eine periphere Neuropathie ist häufig.
Die Klinik der Erkrankung ist durch die massive Ansammlung von Cholesterinestern in allen makrophagenhaltigen Geweben gekennzeichnet. So verfärben sich die sonst rötlichen Tonsillen orange bis gelblich. In Leber und Milz führen diese Ablagerungen zur Schwellung, Hepatosplenomegalie. In den Gefäßwänden sind sie für eine beschleunigte Arteriosklerose verantwortlich. In den Nervenscheiden sind sie die Ursache für eine periphere Neuropathie, die sowohl die sensiblen wie auch die motorischen Nerven betreffen kann.
Die einzige effektive Möglichkeit die Erkrankung zu beeinflussen besteht über eine lipidarme Diät. Lipidsenker brachten keinen Erfolg.
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OMIM.ORG article Omim 205400 |
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Orphanet article Orphanet ID 31150 |