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Published on: August 15, 2019
Tangier disease phenotype diversity in dizygous twin sisters
P Pichit1, M Quillard, P Couvert
1Service de neurologie, Inserm U614, CHU de Rouen, 1, rue de Germont, 76031 Rouen cedex, France.
Introduction:
Tangier disease (TD) is a rare autosomal recessive disorder characterized by a deficiency or absence of high-density lipoprotein (HDL) caused by mutations in the adenotriphosphate-binding cassette transporter-1 gene (ABCA1). Mutations of ABCA1 lead to a defect in cellular cholesterol removal and to deposition of cholesterol esters throughout the body.
Observation:
We report here on the case of a 53-year-old woman with a severe phenotype of TD. The patient had a dizygous twin sister who had only asymptomatic corneal opacities and thrombopenia.
Conclusion:
This family demonstrates the wide intrafamilial phenotype diversity of TD.
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