Rare bleeding disorder in a Uruguayan family. Congenital α2-antiplasmin deficiency in two siblings
Abstract
Congenital α2-antiplasmin (α2AP) deficiency is a very rare bleeding disorder caused by impaired fibrinolysis. We present the clinical cases of two brothers with congenital α2AP deficiency.
Downloads
References
Holmes WE, Nelles L, Lijnen HR, Collen D. Primary structure of human alpha 2-antiplasmin, a serine protease inhibitor (serpin). J Biol Chem (Internet). 1987;262(4):1659–64. Disponible en: http://dx.doi.org/10.1016/s0021-9258(19)75687-7
Al-Ghafry M, Abou-Ismail MY, Acharya SS. Inherited disorders of the fibrinolytic pathway: Pathogenic phenotypes and diagnostic considerations of extremely rare disorders. Semin Thromb Hemost (Internet). 2025;51(2):227–35. Disponible en: http://dx.doi.org/10.1055/s-0044-1789596
Shing S, Saleem S, Reed GL. Alpha 2-antiplasmin: The devil you don`t know in cerebrovascular and cardiovascular disease. Front Cardiovasc Med 2020;7:608899.Disponible en: http://dx.doi.org/10.3389/fcvm.2020.608899
Koie K, Kamiya T, Ogata K, Takamatsu J. Alpha2-plasmin-inhibitor deficiency (Miyasato disease). Lancet (Internet). 1978;2(8104–5):1334–6. Disponible en: http://dx.doi.org/10.1016/s0140-6736(78)91973-6
Saes JL, Schols SEM, van Heerde WL, Nijziel MR. Hemorrhagic disorders of fibrinolysis: a clinical review. J Thromb Haemost (Internet). 2018;16(8):1498-1509 Disponible en: http://dx.doi.org/10.1111/jth.14160
Kettle P, Mayne EE. A bleeding disorder due to deficiency of alpha 2-antiplasmin. J Clin Pathol (Internet). 1985;38(4):428–9. Disponible en: http://dx.doi.org/10.1136/jcp.38.4.428
Paqueron X, Favier R, Richard P, Maillet J, Murat I. Severe postadenoidectomy bleeding revealing congenital alpha 2 antiplasmin deficiency in a child. Anesth Analg (Internet). 1997;84(5):1147–9. Disponible en: http://dx.doi.org/10.1097/00000539-199705000-00038
Kluft C, Vellenga E, Brommer EJ, Wijngaards G. A familial hemorrhagic diathesis in a Dutch family: an inherited deficiency of alpha 2-antiplasmin. Blood (Internet). 1982;59(6):1169–80. Disponible en: http://dx.doi.org/10.1182/blood.v59.6.1169.1169
Shahian DM, Levine JD. Open-heart surgery in a patient with heterozygous alpha 2-antiplasmin deficiency. Perioperative strategies in the first reported case. Chest (Internet). 1990;97(6):1488–90. Disponible en: http://dx.doi.org/10.1378/chest.97.6.1488
Igala M, Oukkach B, Khoubila N, Faez S, Benchekroun S. A congenital α2-antiplasmin deficiency. Ann Biol Clin (Paris) (Internet). 2013;71(1):93–5. Disponible en: http://dx.doi.org/10.1684/abc.2012.0775
Yoshioka A, Kamitsuji H, Takase T, Iida Y, Tsukada S, Mikami S, et al. Congenital deficiency of alpha 2-plasmin inhibitor in three sisters. Haemostasis (Internet). 1982;11(3):176–84. Disponible en: http://dx.doi.org/10.1159/000214659
Riedler GF, Haycox AR, Duggan AK, Dakin HA. Cost-effectiveness of solvent/detergent-treated fresh-frozen plasma. Vox Sang (Internet). 2003;85(2):88–95. Disponible en: http://dx.doi.org/10.1046/j.1423-0410.2003.00329.x
Copyright (c) 2025 Rosario Gomez, Felipe Lemos, Graciela Pedreira

This work is licensed under a Creative Commons Attribution 4.0 International License.
The authors retain their copyright and assign to the journal the right of first publication of their work, which will be simultaneously subject to the Creative Commons Attribution 4.0 International License. that allows sharing the work as long as the initial publication in this magazine is indicated.









