Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B
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. Inv...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
South African Medical Association
2023-12-01
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| Series: | South African Medical Journal |
| Subjects: | |
| Online Access: | https://samajournals.co.za/index.php/samj/article/view/1477 |
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| Summary: | 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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| ISSN: | 0256-9574 2078-5135 |