Medical term:

analphalipoproteinemia



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.
Synonym(s): familial high-density lipoprotein deficiency, Tangier disease
[G. an-, priv., + alpha, α, + lipoprotein + -emia, blood]
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

an·al·pha·lip·o·pro·tein·e·mi·a

(an'al'fă-lip'ō-prō'tēn-ē'mē-ă)
Familial high density lipoprotein deficiency; an inheritable disorder of lipid metabolism characterized by an 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.
Synonym(s): analphalipoproteinaemia.
[G. an-, priv., + alpha, α, + lipoprotein + -emia, blood]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Tangier Island,

an island in the Chesapeake Bay where the first patient was diagnosed.
Tangier disease - Synonym(s): analphalipoproteinemia
Medical Eponyms © Farlex 2012

an·al·pha·lip·o·pro·tein·e·mi·a

(an'al'fă-lip'ō-prō'tēn-ē'mē-ă)
High-density lipoprotein deficiency.
Synonym(s): analphalipoproteinaemia.
[G. an-, priv., + alpha,α, + lipoprotein + -emia, blood]
Medical Dictionary for the Dental Professions © Farlex 2012


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