EC Clinical and Medical Case Reports

Tangier disease is a rare, autosomal recessive storage disorder of serum lipoprotein metabolism. The disease is named after an island off the coast of Virginia (Tangier island Chesapeake Bay) where the first patients were identified. Esterified cholesterol is found to accumulate in macrophages and Schwann cells of peripheral nerves, plasma cholesterol is observed to be low and plasma high density lipoprotein almost completely absent [1]. The large build up of esterified cholesterol occur in tissues like the arteries, liver, spleen, and tonsils leading to clinical manifestations such as coronary artery diseases, muscle wasting, peripheral neuropathy, reduced visual acuity, hepatomegaly, splenomegaly, lymphadenopathy and enlarged yellow tonsils [2].

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3. Schmitz G., et al. “Tangier disease: A disorder of intracellular membrane traffic (monocyte-derived macrophages/high density lipoprotein receptor/lipoprotein metabolism/an-a-lipoproteinemia/cholesterol effiux)”. Proceedings National Academic Science, USA18 (1985): 6305-6307.
4. Rust S., et al. “Tangier disease is caused by mutations in gene encoding ATP-binding cassete transporter 1”. Nature Genetic4 (1999): 352-355.
5. Bodzioch M., et al. “The gene encoding ATP-binding cassete transporter 1 is mutated in Tangier disease”. Nature Genetic4 (1999): 347-351.
6. Kolovou GD., et al. “Tangier disease four decades of research: a reflection of the importance of HDL”. Current Medicinal Chemistry7 (2006): 771-782.
7. Nofer JR and Remaley AT. “Tangier disease: still more questions than answers”. Cell Molecular Life Science19-20 (2005): 2150-2160.
8. Sechi A., et al. “Effects of miglustat treatment in a patient affected by an atypical form of Tangier disease”. Orphanet Journal of Rare Diseases 9 (2014): 143-152.