Abstract

LETETE, N et al. Recurrent venous thrombosis - an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B. SAMJ, S. Afr. med. j. [online]. 2024, vol.114, n.1, pp.11-15. ISSN 2078-5135.  http://dx.doi.org/10.7196/SAMJ.2024.v114i1.1477.

A 45-year-old female presented with unprovoked recurrent venous thromboembolism (VTE), in unusual sites, and pancytopenia, posing a complex diagnostic challenge. Work-up for inherited thrombophilia, antiphospholipid syndrome (APLS) and paroxysmal nocturnal haemoglobinuria were unremarkable. Investigations revealed autoimmune thyroid disease, and a mixed iron/vitamin B12 deficiency due to pernicious anaemia and resultant atrophic gastritis. Hyperhomocysteinaemia due to vitamin B12 deficiency was identified as a potential contributor to her recurrent VTE. This case highlights the unusual initial presentation of autoimmune polyendocrinopathy syndrome type 3B (APS-3B) with recurrent thromboembolism, and emphasises the importance of considering hyperhomocysteinaemia in unprovoked and atypical VTE cases.

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