Glanzmann's disease: clinical elements and therapeutic behavior
Keywords:
Thrombasthenia, Hemorrhage, Platelet Aggregation, Glanzmann's Thrombasthenia.Abstract
Introduction: Glanzmann's disease is a rare disorder, with a worldwide distribution that predominates in the Asian region; it has specific symptoms and emergent treatment. Objective: to describe the clinical elements and the therapeutic behavior of Glanzmann's disease. Method: a bibliographic review was carried out in the databases SciELO, Scopus, ClinicalKey and PubMed. The combination of terms was used as a search strategy, using the name of the disease, clinic and treatment. 21 references were selected. Development: there are three subtypes of Glanzmann's thrombasthenia. The clinical manifestations are variable and include mucocutaneous and gastrointestinal hemorrhages, presence of hemarthrosis, intracranial hemorrhage, and visceral hematoma. Prophylaxis is recommended before major surgeries and avoiding the use of drugs that affect platelet function such as non-steroidal anti-inflammatory drugs and aspirin. The only curative measure for patients with recurrent bleeding episodes or who are refractory to platelet transfusions is allogeneic hematopoietic cell transplantation. Conclusions: the clinical method that includes the search for history and a rigorous physical examination, accompanied by complementary tests, plays an important role in the diagnosis of rhombobastenia. In this way, therapeutics focuses on controlling acute symptoms and platelet transfusions, with several options such as gene therapy still under study; all in order to improve the quality of life and extend it.Downloads
References
1. Boilard E, Nigrovic PA. Plaquetas. En: Firestein G, Budd R, Sherine E, McInnes I, James R. Tratado de reumatología. España: Elsevier; 2018. p. 264-73
2. Reverter JC, Vicente V. Enfermedades de la hemostasia. En: Rozman F. Medicina interna. 18a ed. España: Elsevier; 2016. p. 1691-1719.
3. Chávez González N, Reyes Pérez AM, Rojas Quintana PR, Del Sol Hernández Y. Trombastenia de Glanzmann: presentación de un caso. Rev Metropolitana Ciencias Aplicadas [Internet]. 2021 [citado 09 Feb 2021];4(1):150-4. Disponible en: https://remca.umet.edu.ec/index.php/REMCA/article/view/360/381
4. Reyes MU, Sandoval TFA, Morales S, Villalpando M, Sandoval D, Reyes U. Trombastenia de Glanzmann y embarazo: reporte de un caso y revisión bibliográfica. Ginecol Obstet Mex. [Internet]. 2016 [citado 5 Mayo 2021]; 84(10): [aprox. 12 p.]. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=73309
5. Sharma R, Pérez J, Jobe SM. Congenital Disorders of Platelet Function and Number. Pediatr Clin North Am. [Internet]. 2018 [citado 5 Mayo 2021]; 65(3): [aprox. 15 p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/29803283/
6. Martínez Sánchez LM, Quintero Moreno DA. Trombastenia de Glanzmann: conceptos clave de la enfermedad. Rev Cubana Hematol Inmunol Hemoter [Internet]. 2019 [citado 5 Mayo 2021]; 35(2): [aprox. 11 p.]. Disponible en: http://www.revhematologia.sld.cu/index.php/hih/article/view/993
7. Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, et al. Hematology: Basic Principles and Practice. España: Elsevier; 2018. p.1857-69.
8. Loroch S, Trabold K, Gambaryan S, Reiß C, Schwierczek K, Fleming I. Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. Thromb Haemost. [Internet]. 2017 [citado 5 Mayo 2021]; 117(3): [aprox. 13 p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/28078347/
9. Pillois X, Nurden AT. Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. Br J Haematol. [Internet]. 2016 [citado 5 Mayo 2021]; 175(4): [aprox. 11 p.]. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1111/bjh.14283
10. Donato H, Bacciedoni V, Rapetti MC. Trombocitopenia inmune. Guía de diagnóstico y tratamiento. Arch Argent Pediatr [Internet]. 2019 [citado 17 Mayo 2021];117(6): [aprox. 7 p.]. Disponible en: https://www.sap.org.ar/uploads/consensos/consensos_trombocitopenia-inmune-guia-de-diagnostico-y-tratamiento-91.pdf
11. Suárez Gutiérrez M, Yamazaki-Nakashimada MA, Espinosa S. Síndrome linfoproliferativo autoinmune. Actualización y revisión. Rev. alerg. Méx [Internet]. 2020 [citado 02 Jun 2021];66(4): [aprox. 6 p.]. Disponible en: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S2448-91902019000400456&lng=es&nrm=iso
12. Bezares R, Bistmans A, Borge M. Síndromes linfoproliferativos crónicos. Sociedad Argentina de Hematología [Internet]. 2017 [citado 31 Jul 2021];1(1): [aprox. 8 p.]. Disponible en: http://sah.org.ar/docs/2017/007-S%C3%ADndromes%20Linfoproliferativos%20crónicos.pdf
13. Pino Blanco D, Sánchez Segura M, Marsán Suárez V. Aspectos generales de algunas entidades dentro de los síndromes linfoproliferativos crónicos: la leucemia linfoide crónica. Revista Cubana de Hematol, Inmunol y Hemoterapia [Internet]. 2017 [citado 01 Jun 2021];33(4): [aprox. 3 p.]. Disponible en: https://www.medigraphic.com/cgi-bin/new/resumen.cgi?IDARTICULO=82819
14. Rao A, Coller BS. Hereditary Qualitative Platelet Disorders. En: Kaushansky K, Lichtman MA, Prchal JT, Levi MM, Press OW, Burns LJ, et al. Williams Hematology. 9e ed. New York: McGraw-Hill; 2016.
15. Casas CP, Urrea FC, Solano MH, Sabogal MA. Manejo integral hematológico-odontológico en trombastenia de Glanzmann. Acta Med Colomb [Internet]. 2015 [citado 25 Jun 2021]; 40(1): [aprox. 7 p.]. Disponible en: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-24482015000100012&lng=en
16. Gómez Gómez B, Rodríguez-Weber FL, Díaz-Greene EJ. Fisiología plaquetaria, agregometría plaquetaria y su utilidad clínica. Med. interna Méx. [Internet]. 2018 [citado 25 Jun 2021]; 34(2): [aprox. 18 p.]. Disponible en: http://www.scielo.org.mx/scielo.php?script=sci_arttext&pid=S0186-48662018000200007&lng=es
17. Cid AR, Montesinos P, Sánchez Guiu I, Haya S, Lorenzo JI, Sanz J, et al. Allogeneic hematopoietic cell transplantation in an adult patient with Glanzmann thrombasthenia. Clin Case Rep. [Internet]. 2017 [citado 25 Jun 2021]; 75(11): [aprox. 4 p.]. Disponible en: https://pubmed.ncbi.nlm.nih.gov/29152293/
18. Moraleda Jiménez JM. Pregrado de Hematología. 4ª ed. Madrid: Luzan; 2017.
19. Centro para el Desarrollo de la Farmacoepidemiología. Formulario Nacional de Medicamentos de Cuba. Ministerio de Salud Pública. La Habana: Editorial Ciencias Médicas; 2018.
20. Tamayo Ojeda C, Parellada-Esquius N, Salvador-González B, Oriol-Torón PÁ, Rodríguez-Garrido MD, Muñoz-Segura D. Compliance with recommendations in secondary prevention of stroke in primarycare. Aten Primaria [Internet]. 2017 [citado 25 Jun 2021]; 49 (6): [aprox. 7 p.]. Disponible en: https://europepmc.org/abstract/med/28395917
21. Moracchini J, Seigeot A, Angelot-Delettre F, Vieno A. Platelet transfusions in haematologic malignancies in the last six months of life. Vox Sanguinis [Internet]. 2021 [citado 25 Jun 2021]; 116 (4): [aprox. 8 p.]. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1111/vox.12986
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