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

Authors

  • N Letete National Health Laboratory Services, Tshwane Academic Division, Pretoria, South Africa
  • D Vaz 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
  • P H Malishi Department of Internal Medicine, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South Africa
  • J J Pogieter 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
  • P Rheeder Department of Internal Medicine, Steve Biko Academic Hospital and Faculty of Health Sciences, University of Pretoria, South Africa

DOI:

https://doi.org/10.7196/SAMJ.2024.v114i1.1477

Keywords:

Hyperhomocysteinemia, Autoimmune Polyglandular Syndrome Type 3B, Recurrent thrombosis

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.

References

McCully KS. Vascular pathology of homocysteinemia: Implications for the pathogenesis of arteriosclerosis. Am J Pathol 1969;56(1):111-128. https://doi.org/10.1177/56.1.111

Veeranki S, Gandhapudi SK, Tyagi SC. Interactions of hyperhomocysteinemia and T cell immunity in causation of hypertension. Can J Physiol Pharmacol 2017;95(3):239-246. https://doi.org/10.1139/ cjpp-2016-0401

Park WC, Chang JH. Clinical implications of methylenetetrahydrofolate reductase mutations and plasma homocysteine levels in patients with thromboembolic occlusion. Vasc Specialist Int 2014;30(4):113-119. https://doi.org/10.5758/vsi.2014.30.4.113

Eisenbarth GS, Gottlieb PA. Autoimmune polyendocrine syndromes. N Engl J Med 2004;350(19):2068- 2079. https://doi.org/10.1056/NEJMra030158

Neufeld M, Maclaren N, Blizzard R. Autoimmune polyglandular syndromes. Pediatr Ann 1980;9(9):154-162. https://doi.org/10.3928/0090-4481-19800901-08

Horsey M, Hogan P, Oliver T. Deep vein thrombosis, an unreported first manifestation of polyglandular autoimmune syndrome type III. Endocrinol Diabetes Metab Case Rep 2016;2016:16-0034. https://doi. org/10.1530/EDM-16-0034

Terunuma D, Egashira S, Doijiri R, Kimura N, Hashimoto Y, Kikuchi T. Autoimmune polyglandular syndrome type 3 diagnosed with cerebral venous sinus thrombosis: A case report. Rinsho Shinkeigaku 2023;63(5):298-304. https://doi.org/10.5692/clinicalneurol.cn-001830

Syed S, Fatima S. Impending pericardial tamponade as the initial presentation of autoimmune polyglandular syndrome 3B. Chest 2021;160(4):A272. https://doi.org/10.1016/j.chest.2021.07.610

Apolinario M, Brussels A, Cook CB, Yang S. Autoimmune polyglandular syndrome type 3: A case

report of an unusual presentation and literature review. Clin Case Repo 2022:e05391. https://doi.

org/10.1002/ccr3.5391

Mehta R, Daude A, Variava E. Vitamin B12 deficiency and hyperhomocysteinemia: A description of two cases with thrombosis. Wits J Clin Med 2022;4(2):103-106. https://doi.org/10.18772/26180197.2022. v4n2a6

Ndaba LW, van Blydenstein SA, Hodkinson KE. Vitamin B12 deficiency presenting with pulmonary embolism: An unusual presentation. Afr J Thoracic Crit Care Med 2023;29(3):e285. https://doi. org/10.7196/AJTCCM.2023.v29i3.285

Vinash BL, Kamath V, Ganguly S. An interesting case of hyperhomocysteinemia presenting as acute myocardial infarction and cerebral venous thrombosis. APIK J Int Med 2021;9(2):116-119. https://doi. org/10.4103/AJIM.AJIM_1_20

Varlamos C, Pappas C, Kiouri E, Kosmas N, Benetou DR, Rallidis LS. Hyperhomocysteinemia as the only risk factor in a young man presenting with ST-elevation myocardial infarction. J Cardiol Cases 2021;23(3):112-114. https://doi.org/10.1016/j.jccase.2020.10.004

Sud S, Kumar Y, Bhardwaj S, Dwivedi D. Homocysteinemia-induced upper-extremity deep-vein thrombosis: A sinister at high altitude. Indian J Vasc Endovasc Surg 2021;8(3):274-276. https://doi. org/10.4103/ijves.ijves_112_20

Khaliq L, Kabir KF, Pyai K, Hadid T, Collins-Hamel B. A simple vitamin deficiency with life- threatening complications: A case of B12 deficiency and hyperhomocysteinemia-induced thrombosis. Cureus 2023;15(8):e42908. https://doi.org/10.7759/cureus.42908

Kovalenko O, Kassem AN, Jenkins M. Hyperhomocysteinemia and pulmonary embolism in a young male. Cureus 2020;12(4):e7818. https://doi.org/10.7759/cureus.7818

Acharya R, Shrestha A, Simkhada S, et al. Inferior vena cava thrombosis attributable to hyperhomocysteinemia: A case report from Nepal. S Afr Med J 2022;112(1):1-6. https://doi.org/10.1002/ ccr3.6605

Ray JG. Meta-analysis of hyperhomocysteinemia as a risk factor for venous thromboembolic disease. Arch Intern Med 1998;158(19):2101-2106. https://doi.org/10.1001/archinte.158.19.2101

Rachchillage DJ, Mackillop L, Chandratheva A, Motawani J, MacCallum P, Laffan M. Thrombophilia testing: A British Society for Haematology guideline. Br J Haematol 2022;198(3):443-458. https://doi. org/10.1111/bjh.18239

Jacobsen BF, Louw S, Büller H, on behalf of the Southern African Society of Thrombosis and Haemostasis. Venous thromboembolism: Prophylactic and therapeutic practice guideline. S Afr Med J 2013;103(4):260-267. https://doi.org/10.7196/SAMJ.6706

Kyrle PA. How I treat recurrent deep-vein thrombosis. Blood 2016;127(6):696-702. https://doi. org/10.1182/blood-2015-09-671297

Homocysteine Lowering Trialists’ Collaboration. Lowering blood homocysteine with folic acid-based supplements: Meta-analysis of randomised trials. BMJ 1998;316:894-898. https://doi.org/10.1136/ bmj.316.7135.894

Homocysteine Lowering Trialists’ Collaboration. Dose-dependent effects of folic acid on blood concentrations of homocysteine: A meta-analysis of the randomised trials. Am J Clin Nutr 2005; 82:806-812. https://doi.org/10.1093/ajcn/82.4.806

Zhang C, Wang Z-Y, Qin Y-Y, Yu F-F, Zhou Y-H. Association between B vitamins supplementation and risk of cardiovascular outcomes: A cumulative meta-analysis of randomised controlled trials. PLoS ONE 2014;9(9):e107060. https://doi.org/10.1371/journal.pone.0107060

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Published

2023-12-31

Issue

SAMJ Vol. 114 no. 1

Section

In Practice

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Copyright (c) 2023 N Letete, D Vaz, P H Malishi, J J Pogieter, P Rheeder

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How to Cite

1.
Letete N, Vaz D, Malishi PH, Pogieter JJ, Rheeder P. Recurrent venous thrombosis – an unusual first presentation of autoimmune polyendocrinopathy syndrome type 3B. S Afr Med J [Internet]. 2023 Dec. 31 [cited 2026 Apr. 18];114(1):17-21. Available from: https://www.samajournals.co.za/index.php/samj/article/view/1477