Tangier disease

Tangier disease (TD) is a rare lipoprotein metabolism disorder characterized biochemically by an almost complete absence of plasma high-density lipoproteins (HDL), and clinically by liver, spleen, lymph node and tonsil enlargement along with peripheral neuropathy in children and adolescents, and, occasionally, cardiovascular disease in adults.

Histiocytosis

An excessive number of histiocytes (tissue macrophages).


Total: 1

                      


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PMID (PMCID)
19723515
MALE Middle Aged
A novel ABCA1 nonsense mutation, R1270X, in Tangier disease associated with an unrecognised bleeding tendency.
Hooper AJ, Robertson K, Ng L, Kattampallil JS, Latchem D, Willsher PC, Thom J, Baker RI, Burnett JR.
Clin Chim Acta. 2009;409(1-2):136-9.
Histologic analysis of sections of spleen revealed lipid histiocytosis consistent with the diagnosis of Tangier disease.