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]

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.

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]

Tangier Island,

an island in the Chesapeake Bay where the first patient was diagnosed. Tangier disease - Synonym(s): 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.
Synonym(s): analphalipoproteinaemia. [G. an-, priv., + alpha,α, + lipoprotein + -emia, blood]

单词	analphalipoproteinemia
释义	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] 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. 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] Tangier Island, an island in the Chesapeake Bay where the first patient was diagnosed. Tangier disease - Synonym(s): 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. Synonym(s): analphalipoproteinaemia. [G. an-, priv., + alpha,α, + lipoprotein + -emia, blood]
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