Tangier disease is an autosomal codominant condition. Mutations of the ABCA1 gene impair cholesterol efflux from macrophages causing cholesterol accumations in those cells. Clinical manifestations include orange tonsils, spleen and liver swelling, accelerated cardiovascular disease and peripheral neuropathy.
The clinical picture id dominated by the effect of cholesterol depositions in all macrophages containing tissues. Tonsilles change color from red through orange to yellowish. In liver and spleen it causes swelling, hepatosplenomegaly. In vascular tissues it is responsible for accelerated arteriosclerosis. In Swan cells it causes peripheral neuropathy inluding sensory and motor neurons.
The sole possibility to improve the disease is through low-fat diet. Lipid lowering drugs have no effect.
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OMIM.ORG article Omim 205400 |
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Orphanet article Orphanet ID 31150 |
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Wikipedia article Wikipedia EN (Tangier_disease) |