AI Article Synopsis
- * Testing for common blood clotting disorders came back normal, but she was found to have autoimmune thyroid disease and deficiencies in iron and vitamin B12, possibly due to pernicious anemia.
- * The case suggests that high levels of homocysteine from vitamin B12 deficiency could be a factor in her recurrent clots, highlighting the need to investigate this in similar atypical situations.
Article 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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| http://dx.doi.org/10.7196/SAMJ.2024.v114i1.1477 | DOI Listing |
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