National Health Laboratory Services, Tshwane Academic Division, Pretoria, South Africa.
National 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 Africa.
S Afr Med J. 2023 Dec 31;114(1):17-21. doi: 10.7196/SAMJ.2024.v114i1.1477.
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.
一位 45 岁女性因无诱因反复发作静脉血栓栓塞症（VTE）、不常见部位和全血细胞减少症而就诊，这对诊断提出了复杂的挑战。遗传性血栓形成倾向、抗磷脂综合征（APLS）和阵发性睡眠性血红蛋白尿的检查结果无明显异常。检查发现自身免疫性甲状腺疾病，以及因恶性贫血和萎缩性胃炎导致的缺铁和维生素 B12 缺乏。维生素 B12 缺乏引起的高同型半胱氨酸血症被认为是导致其反复发作 VTE 的潜在原因。该病例强调了自身免疫性多内分泌腺病综合征 3B 型（APS-3B）以反复发作性血栓栓塞为首发表现的罕见情况，同时也强调了在无诱因和非典型 VTE 病例中考虑高同型半胱氨酸血症的重要性。
