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

S Afr Med J. 2023 Dec 31;114(1):17-21. doi: 10.7196/SAMJ.2024.v114i1.1477.ABSTRACTA 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.PMID:38525624 | DOI:10.7196/SAMJ.2024.v114i1.1477
Source: South African Medical Journal - Category: African Health Authors: Source Type: research