Tangier Disease: a case report
Keywords:
Tangier, hypoalphalipoproteinemiaAbstract
Tangier disease is an extremely rare genetic disease (incidence estimated of 1/120.000.000 person, with less than 100
cases reported worldwide), characterized by severe deficiency
of high-density lipoproteins (HDL). The clinical features of this
disease are due to increased cholesterol esters accumulation in
the affected tissues and no known therapy alters the course of
Tangier Disease.
We describe a clinical case of a 58 year old man, referred to
Internal Medicine for the evaluation of very low total cholesterol,
witch study lead to the diagnosis of Tangier Disease, with clinical
findings of splenomegaly and hypersplenism.
The authors present a brief review of this disease.
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References
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