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.

Thrombocytopenia

A reduction in the number of circulating thrombocytes.


Total: 1

                       


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PMID (PMCID)
22959828
 MIXED_SAMPLE Infant
Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.
Fasano T, Zanoni P, Rabacchi C, Pisciotta L, Favari E, Adorni MP, Deegan PB, Park A, Hlaing T, Feher MD, Jones B, Uzak AS, Kardas F, Dardis A, Sechi A, Bembi B, Minuz P, Bertolini S, Bernini F, Calandra S.
Mol Genet Metab. 2012;107(3):534-41.
Five patients (aged 6 months to 76 years) presented with splenomegaly and thrombocytopenia suggesting the diagnosis of Tangier disease (TD).