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.

Peripheral neuropathy

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.


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PMID (PMCID)
12615648
 FEMALE Middle Aged
A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease.
Zuchner S, Sperfeld AD, Senderek J, Sellhaus B, Hanemann CO, Schroder JM.
Brain. 2003;126(Pt 4):920-7.
A typical clinical manifestation of Tangier disease is peripheral neuropathy.
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.
8372645
 FEMALE Middle Aged
Acute presentation of Tangier polyneuropathy: a clinical and morphological study.
Fazio R, Nemni R, Quattrini A, Ruotolo G, Iannaccone S, Mamoli D, Lodi M, Canal N.
Acta Neuropathol. 1993;86(1):90-4.
We describe a patient with Tangier disease and a peripheral neuropathy with an unusual acute onset.
8432861
 MIXED_SAMPLE Middle Aged
Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.
Cheung MC, Mendez AJ, Wolf AC, Knopp RH.
J Clin Invest. 1993;91(2):522-9.
She had most of the clinical symptoms typically associated with Tangier disease, including early corneal opacities, yellow-streaked tonsils, hepatomegaly, and variable degrees of peripheral neuropathy, but had no splenomegaly.
6317140
 MIXED_SAMPLE Adult
Peripheral neuropathy in Tangier disease.
Pollock M, Nukada H, Frith RW, Simcock JP, Allpress S.
Brain. 1983;106 ( Pt 4):911-28.
Peripheral neuropathy in Tangier disease.