Tangier disease; high density lipoprotein (HDL) deficiency type 1; analphalipoproteinemia (HDLD1)
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Etiology
severe deficiency of plasma HDL
Epidemiology
rare
Pathology
- accumulation of cholesterol ester laden cells in reticuloendothelial tissue
Genetics
- autosomal recessive
- defect in apolipoprotein A1
- mutations in ATP-binding cassette transporter 1 (ABCA1) gene [2-4]
- other implicated genes
Clinical manifestations
- enlarged & distinctively colored tonsils
- hepatosplenomegaly
- lymphadenopathy
- premature coronary artery disease (CAD)
- recurrent peripheral neuropathy
- progressive muscle wasting & weakness
Laboratory
- decreased serum cholesterol, HDL & LDL; HDL cholesterol may be absent
- elevated serum triglyceride
- measure of apolipoprotein A1 may be abnormal
More general terms
References
- ↑ Clinical Diagnosis & Management by Laboratory Methods, J.B. Henry (ed), W.B. Saunders Co., Philadelphia, PA. 1991, pg 210
- ↑ Bodzioch M et al The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genetics 22:347-51, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10431237
- ↑ Rust S et al Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genetics 22:352-5, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10431238