Síndrome antifosfolípido de debut en la adolescencia con síndrome de Budd-Chiari y colitis isquémica: reporte de un caso pediátrico
DOI:
https://doi.org/10.5281/zenodo.23020398Palabras clave:
vasculopatía gastrointestinal, anticoagulación, vena cava inferior, autoanticuerpos, trombosis venosaResumen
El síndrome antifosfolípido es una trombofilia autoinmune poco frecuente en edad pediátrica y puede debutar con trombosis en territorios inusuales. Se describe la evolución de una adolescente de 14 años y 11 meses con dolor abdominal de un mes, vómitos, deshidratación y choque compensado, en quien el estudio Doppler identificó trombosis del segmento retrohepático de la vena cava inferior, hepatomegalia congestiva y hallazgos compatibles con síndrome de Budd-Chiari. El perfil inmunológico mostró anticoagulante lúpico positivo, anticardiolipina IgM elevada, anti-β2-glicoproteína I IgM positiva, hipocomplementemia y Coombs directo positivo. La evolución incluyó anticoagulación con enoxaparina, trombólisis sistémica con alteplasa, corticoterapia, hidroxicloroquina y rituximab. Ante dolor abdominal persistente, Gastroenterología consideró colitis isquémica en el contexto protrombótico, sin documentarse oclusión mesentérica macroscópica. Los controles evidenciaron reducción y organización del trombo, recuperación hematológica y disminución de la respuesta inflamatoria, con egreso clínicamente estable. El caso evidencia la necesidad de sospechar síndrome antifosfolípido ante trombosis venosa abdominal en adolescentes y de integrar evaluación hematológica, reumatológica, hepatológica, gastrointestinal e imagenológica.
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Referencias
1. Barbhaiya M, Zuily S, Naden R, Hendry A, Manneville F, Amigo MC, et al. 2023 ACR/EULAR antiphospholipid syndrome classification criteria. Ann Rheum Dis. 2023;82(10):1258-1270. doi:10.1136/ard-2023-224609.
2. Lewis K, Tambralli A, Madison JA. Pediatric antiphospholipid syndrome: expanding our understanding of antiphospholipid syndrome in children. Curr Opin Rheumatol. 2025;37(3):176-184. doi:10.1097/BOR.0000000000001083.
3. Campos LM, Marra PS, Doria CR, Cordoba SD, Silva CA. Updates in diagnosis and treatment of pediatric antiphospholipid syndrome. Curr Rheumatol Rep. 2024;26(10):366-374. doi:10.1007/s11926-024-01156-7.
4. Islabão AG, Trindade VC, da Mota LMH, Andrade DCO, Silva CA. Managing antiphospholipid syndrome in children and adolescents: current and future prospects. Paediatr Drugs. 2022;24(1):13-27. doi:10.1007/s40272-021-00484-w.
5. Madison JA, Zuo Y, Knight JS. Pediatric antiphospholipid syndrome. Eur J Rheumatol. 2020;7(Suppl 1):S3-S12. doi:10.5152/eurjrheum.2019.19160.
6. Soybilgic A, Avcin T. Pediatric APS: state of the art. Curr Rheumatol Rep. 2020;22(3):9. doi:10.1007/s11926-020-0887-9.
7. Avcin T, Cimaz R, Silverman ED, Cervera R, Gattorno M, Garay S, et al. Pediatric antiphospholipid syndrome: clinical and immunologic features of 121 patients in an international registry. Pediatrics. 2008;122(5):e1100-e1107. doi:10.1542/peds.2008-1209.
8. Sciascia S, Radin M, Cecchi I, Levy RA, Erkan D. 16th International Congress on Antiphospholipid Antibodies Task Force report on clinical manifestations of antiphospholipid syndrome. Lupus. 2021;30(8):1314-1326. doi:10.1177/09612033211020361.
9. Devreese KMJ, de Groot PG, de Laat B, Erkan D, Favaloro EJ, Mackie I, et al. Guidance from the Scientific and Standardization Committee for lupus anticoagulant/antiphospholipid antibodies of the International Society on Thrombosis and Haemostasis: update of the guidelines for lupus anticoagulant detection and interpretation. J Thromb Haemost. 2020;18(11):2828-2839. doi:10.1111/jth.15047.
10. Atsumi T, Chighizola CB, Fujieda Y, Mackie I, Radin M, Roubey R, Bertolaccini ML. 16th International Congress on Antiphospholipid Antibodies Task Force report on antiphospholipid syndrome laboratory diagnostics and trends. Lupus. 2023;32(14):1625-1636. doi:10.1177/09612033231211820.
11. Sciascia S, Montaruli B, Infantino M. Antiphospholipid antibody testing. Med Clin (Barc). 2024;163 Suppl 1:S4-S9. doi:10.1016/j.medcli.2024.06.002.
12. Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost. 2006;4(2):295-306. doi:10.1111/j.1538-7836.2006.01753.x.
13. Samanta A, Sen Sarma M, Yadav R. Budd-Chiari syndrome in children: challenges and outcome. World J Hepatol. 2023;15(11):1174-1187. doi:10.4254/wjh.v15.i11.1174.
14. Rudra OS, Poyekar S, Nagral A. Pediatric Budd-Chiari syndrome: a systematic review of etiology, diagnosis, and management. J Clin Exp Hepatol. 2026;16(4):103559. doi:10.1016/j.jceh.2026.103559.
15. European Association for the Study of the Liver. EASL Clinical Practice Guidelines on vascular diseases of the liver. J Hepatol. 2026;84(2):399-456. doi:10.1016/j.jhep.2025.08.001.
16. Gupta P, Bansal V, Kumar-M P, Sinha SK, Samanta J, Mandavdhare H, et al. Diagnostic accuracy of Doppler ultrasound, CT and MRI in Budd Chiari syndrome: systematic review and meta-analysis. Br J Radiol. 2020;93(1109):20190847. doi:10.1259/bjr.20190847.
17. Khan F, Armstrong MJ, Mehrzad H, Chen F, Neil D, Brown R, et al. Review article: a multidisciplinary approach to the diagnosis and management of Budd-Chiari syndrome. Aliment Pharmacol Ther. 2019;49(7):840-863. doi:10.1111/apt.15149.
18. Patel RK, Chandel K, Tripathy T, Behera S, Panigrahi MK, Nayak HK, et al. Interventions in Budd-Chiari syndrome: an updated review. Abdom Radiol (NY). 2025;50(3):1307-1319. doi:10.1007/s00261-024-04558-4.
19. Atamari-Anahui N, Domínguez-Rojas J, Ruiz-Solsol L, López-Turpo M, Castillo-Delgadillo A, Quiñonez Saif D, Campano Cornejo JW. Síndrome de Budd Chiari secundario al síndrome antifosfolipídico y lupus eritematoso sistémico en una adolescente: reporte de un caso. Rev Gastroenterol Peru. 2022;42(2):131-135.
20. Saca LF, Szer IS, Henar E, Nanjundiah P, Haddad ZH, Quismorio FP Jr. Budd-Chiari syndrome associated with antiphospholipid antibodies in a child: report of a case and review of the literature. J Rheumatol. 1994;21(3):545-548.
21. Hung A, Calderbank T, Samaan MA, Plumb AA, Webster G. Ischaemic colitis: practical challenges and evidence-based recommendations for management. Frontline Gastroenterol. 2021;12(1):44-52. doi:10.1136/flgastro-2019-101204.
22. Xu Y, Xiong L, Li Y, Jiang X, Xiong Z. Diagnostic methods and drug therapies in patients with ischemic colitis. Int J Colorectal Dis. 2021;36(1):47-56. doi:10.1007/s00384-020-03739-z.
23. Maimone A, De Ceglie A, Siersema PD, Baron TH, Conio M. Colon ischemia: a comprehensive review. Clin Res Hepatol Gastroenterol. 2021;45(6):101592. doi:10.1016/j.clinre.2020.101592.
24. Zhong Q, Zhao J. Ischemic colitis in a child: a case report and narrative review. Front Pediatr. 2026;14:1791996. doi:10.3389/fped.2026.1791996.
25. Brandt LJ, Feuerstadt P, Longstreth GF, Boley SJ; American College of Gastroenterology. ACG clinical guideline: epidemiology, risk factors, patterns of presentation, diagnosis, and management of colon ischemia. Am J Gastroenterol. 2015;110(1):18-44; quiz 45. doi:10.1038/ajg.2014.395.
26. Ambati A, Knight JS, Zuo Y. Antiphospholipid syndrome management: a 2023 update and practical algorithm-based approach. Curr Opin Rheumatol. 2023;35(3):149-160. doi:10.1097/BOR.0000000000000932.
27. Madison JA, Duarte-García A, Zuo Y, Knight JS. Treatment of thrombotic antiphospholipid syndrome in adults and children. Curr Opin Rheumatol. 2020;32(3):215-227. doi:10.1097/BOR.0000000000000702.
28. Tektonidou MG, Andreoli L, Limper M, Amoura Z, Cervera R, Costedoat-Chalumeau N, et al. EULAR recommendations for the management of antiphospholipid syndrome in adults. Ann Rheum Dis. 2019;78(10):1296-1304. doi:10.1136/annrheumdis-2019-215213.
29. Arachchillage DJ, Laffan M, Pericleous C. Hydroxychloroquine as an immunomodulatory and antithrombotic treatment in antiphospholipid syndrome. Int J Mol Sci. 2023;24(2):1331. doi:10.3390/ijms24021331.
30. Yun Z, Duan L, Liu X, Cai Q, Li C. An update on the biologics for the treatment of antiphospholipid syndrome. Front Immunol. 2023;14:1145145. doi:10.3389/fimmu.2023.1145145.
31. Cervera R, Rodríguez-Pintó I, Legault K, Erkan D. 16th International Congress on Antiphospholipid Antibodies Task Force report on catastrophic antiphospholipid syndrome. Lupus. 2020;29(12):1594-1600. doi:10.1177/0961203320951260.
32. Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D; CARE Group. The CARE guidelines: consensus-based clinical case reporting guideline development. J Med Case Rep. 2013;7:223. doi:10.1186/1752-1947-7-223.
33. Riley DS, Barber MS, Kienle GS, Aronson JK, von Schoen-Angerer T, Tugwell P, et al. CARE guidelines for case reports: explanation and elaboration document. J Clin Epidemiol. 2017;89:218-235. doi:10.1016/j.jclinepi.2017.04.026.
34. Wincup C, Ioannou Y. The differences between childhood and adult onset antiphospholipid syndrome. Front Pediatr. 2018;6:362. doi:10.3389/fped.2018.00362.
35. Groot N, de Graeff N, Avcin T, Bader-Meunier B, Dolezalova P, Feldman B, et al. European evidence-based recommendations for diagnosis and treatment of paediatric antiphospholipid syndrome: the SHARE initiative. Ann Rheum Dis. 2017;76(10):1637-1641. doi:10.1136/annrheumdis-2016-211001.
36. Tarango C, Palumbo JS. Antiphospholipid syndrome in pediatric patients. Curr Opin Hematol. 2019;26(5):366-371. doi:10.1097/MOH.0000000000000523.
37. Tripodi A, Cohen H, Devreese KMJ. Lupus anticoagulant detection in anticoagulated patients. Guidance from the Scientific and Standardization Committee for lupus anticoagulant/antiphospholipid antibodies of the International Society on Thrombosis and Haemostasis. J Thromb Haemost. 2020;18(7):1569-1575. doi:10.1111/jth.14846.
38. Talon L, Fourneyron V, Senectaire S, Tardieu M, Tillier M, Trapani A, et al. Lupus anticoagulant laboratory diagnosis by applying the 2020 ISTH-SSC guidelines. Thromb Res. 2023;224:38-45. doi:10.1016/j.thromres.2023.02.009.
39. Amoura Z, Bader-Meunier B, Bal Dit Sollier C, Belot A, Benhamou Y, Bezanahary H, et al. French National Diagnostic and Care Protocol for antiphospholipid syndrome in adults and children. Rev Med Interne. 2023;44(9):495-520. doi:10.1016/j.revmed.2023.08.004.





















