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.

Anemia

A reduction in erythrocytes volume or hemoglobin concentration.


Total: 1

                       


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PMID (PMCID)
11257260
 FEMALE Middle Aged
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.
Bertolini S, Pisciotta L, Seri M, Cusano R, Cantafora A, Calabresi L, Franceschini G, Ravazzolo R, Calandra S.
Atherosclerosis. 2001;154(3):599-605.
However, none of the other features of Tangier disease, including hepatomegaly, anemia and peripheral neuropathy, were present.