Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B

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South African Medical Association

Abstract

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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Keywords

Hyperhomocysteinemia, Autoimmune polyendocrinopathy syndrome type 3B (APS-3B), Recurrent thrombosis, Venous thromboembolism (VTE), Antiphospholipid syndrome (APLS)

Sustainable Development Goals

SDG-03: Good health and well-being

Citation

Letete, N., Vaz, D., Malishi, P.H. et al. 2024, 'Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B', South African Medical Journal, vol. 114, no. 1, pp. 11-15. https://doi.org/10.7196/SAMJ.2024.v114i1.1477.