Tangier disease

(redirected from Familial Hypoalphalipoproteinemia)
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Tangier disease

 [tan-jēr´]
a familial disease characterized by a deficiency of high-density lipoproteins in the blood serum, with storage of cholesterol esters in the tonsils and other tissues.

an·al·pha·lip·o·pro·tein·e·mi·a

(an-al'fă-lip'ō-prō'tēn-ē'mē-ă),
High-density lipoprotein deficiency; an inheritable disorder of lipid metabolism characterized by almost complete absence from plasma of high-density lipoproteins and by storage of cholesterol esters in foam cells, tonsillar enlargement, an orange or yellow-gray color of the pharyngeal and rectal mucosa, hepatosplenomegaly, lymph node enlargement, corneal opacity, and peripheral neuropathy; autosomal recessive inheritance.
[G. an-, priv., + alpha, α, + lipoprotein + -emia, blood]

Tangier disease

[tanjir′]
Etymology: Tangier Island, Virginia
a rare genetic disorder resulting in a deficiency of high-density lipoproteins, characterized by low blood cholesterol and an abnormal orange or yellow discoloration of the tonsils and pharynx. There also may be enlarged lymph nodes, liver, and spleen; muscle atrophy; and peripheral neuropathy. No specific treatment is known.

Tangier disease

An extremely rare (50 cases reported in world literature) autosomal-recessive condition caused by alpha-lipoprotein deficiency.
 
Clinical findings
Generalised deposits of cholesteryl esters in tonsils and other lymphoid tissues, lymphadenopathy, hepatosplenomegaly, proximal peripheral neuropathy, intermittent diarrhoea, corneal opacification.
 
Lab
Absent HDL, decreased cholesterol (< 120 mg/dl), decreased phospholipids, decreased apoA-I and apoA-II, increased triglycerides.
 
Prognosis
Usually benign, rarely coronary heart disease.

Tangier disease

Analphalipoproteinemia A rare AR condition caused by a deficiency in α-lipoprotein Clinical Deposits of cholesteryl esters in tonsils, other lymphoid tissues, lymphadenopathy, hepatosplenomegaly, peripheral neuropathy, intermittent diarrhea, corneal opacification Lab Absent HDL, ↓ cholesterol < 120 mg/dl, ↓ phospholipids, ↓ apoA-I and apoA-II, ↑ TGs Prognosis Usually benign, rarely CAD. See Triglyceride.

Tangier Island,

an island in the Chesapeake Bay where the first patient was diagnosed.
Tangier disease - Synonym(s): analphalipoproteinemia
References in periodicals archive ?
Apo A-IMALLORCA impairs LCAT activation and induces dominant familial hypoalphalipoproteinemia.
47] Isolated deficiency of HDL-C, genetic in presentation, is known as familial hypoalphalipoproteinemia.
Familial hypoalphalipoproteinemia syndromes are phenotypically heterogeneous.
The carrier state of deleterious mutations in the ABCA1 gene has also been found to be the cause of familial hypoalphalipoproteinemia (FHA), which is characterized by low serum HDL-C (150-350 mg/L) (7).
Despite the recent characterization of ABCA1 mutations as the cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (2-5), there have been little data evaluating clinical measures of atherosclerosis in individuals with identified defects in ABCA1.
showed that familial hypoalphalipoproteinemia can also be associated with an increased apo B concentration [21].
Apolipoprotein A-I gene polymorphism associated with premature coronary artery disease and familial hypoalphalipoproteinemia.

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