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Journal of Clinical Lipidology, vol.19, no.4, pp.1158-1163, 2025 (SCI-Expanded, Scopus)
Tangier disease (TD) is a rare inherited disorder of lipoprotein metabolism, characterized by the accumulation of cholesterol esters in various tissues, resulting from a marked deficiency or absence of high-density lipoproteins (HDL). There is limited information in the literature regarding the impact of TD on reproduction. We present the case of a 34-year-old female patient who was diagnosed with TD 9 years ago with extremely low concentrations of HDL cholesterol (0.7 mg/dL), low-density lipoprotein cholesterol (5 mg/dL) and apolipoprotein A1 (0.02 mg/dL). Genetic analysis revealed a homozygous c.4218delC (p.Asn1406Lysfs*95) pathogenic variant in the ABCA1 gene causing TD. She presented with a mild clinical course that included gastrointestinal involvement and mild thrombocytopenia. Despite being clinically stable for a long time, the patient, who desired to become pregnant, was diagnosed with premature ovarian insufficiency (POI) according to the hormone profile (follicle stimulating hormone: 58.7 mIU/mL, luteinizing hormone: 37.1 mIU/mL, estradiol: 34.8 pg/mL, anti-Mullerian hormone: 0.08 ng/mL) after experiencing amennorrhea during follow-up.