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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| Format: | Article |
| Language: | English |
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South African Medical Association
2023-12-01
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| Series: | South African Medical Journal |
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| Online Access: | https://samajournals.co.za/index.php/samj/article/view/1477 |
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| author | N Letete D Vaz P H Malishi J J Pogieter P Rheeder |
| author_facet | N Letete D Vaz P H Malishi J J Pogieter P Rheeder |
| author_sort | N Letete |
| collection | DOAJ |
| description |
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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| format | Article |
| id | doaj-art-067e3c26fd8d460fa6f035e55d40e213 |
| institution | Kabale University |
| issn | 0256-9574 2078-5135 |
| language | English |
| publishDate | 2023-12-01 |
| publisher | South African Medical Association |
| record_format | Article |
| series | South African Medical Journal |
| spelling | doaj-art-067e3c26fd8d460fa6f035e55d40e2132025-02-10T12:26:32ZengSouth African Medical AssociationSouth African Medical Journal0256-95742078-51352023-12-01114110.7196/SAMJ.2024.v114i1.1477Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3BN Letete0D Vaz1P H Malishi2J J Pogieter3P Rheeder4National Health Laboratory Services, Tshwane Academic Division, Pretoria, South AfricaNational Health Laboratory Services, Tshwane Academic Division, Pretoria, South Africa; Department of Haematology, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South AfricaDepartment of Internal Medicine, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South AfricaNational Health Laboratory Services, Tshwane Academic Division, Pretoria, South Africa; Department of Haematology, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South AfricaDepartment of Internal Medicine, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South Africa 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. https://samajournals.co.za/index.php/samj/article/view/1477HyperhomocysteinemiaAutoimmune Polyglandular Syndrome Type 3BRecurrent thrombosis |
| spellingShingle | N Letete D Vaz P H Malishi J J Pogieter P Rheeder Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B South African Medical Journal Hyperhomocysteinemia Autoimmune Polyglandular Syndrome Type 3B Recurrent thrombosis |
| title | Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B |
| title_full | Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B |
| title_fullStr | Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B |
| title_full_unstemmed | Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B |
| title_short | Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B |
| title_sort | recurrent venous thrombosis an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3b |
| topic | Hyperhomocysteinemia Autoimmune Polyglandular Syndrome Type 3B Recurrent thrombosis |
| url | https://samajournals.co.za/index.php/samj/article/view/1477 |
| work_keys_str_mv | AT nletete recurrentvenousthrombosisanunusualfirstpresentationofautoimmunepolyendocrinopathysyndrometype3b AT dvaz recurrentvenousthrombosisanunusualfirstpresentationofautoimmunepolyendocrinopathysyndrometype3b AT phmalishi recurrentvenousthrombosisanunusualfirstpresentationofautoimmunepolyendocrinopathysyndrometype3b AT jjpogieter recurrentvenousthrombosisanunusualfirstpresentationofautoimmunepolyendocrinopathysyndrometype3b AT prheeder recurrentvenousthrombosisanunusualfirstpresentationofautoimmunepolyendocrinopathysyndrometype3b |