Trombocitopenia hereditaria relacionada a gen MYH-9: Primera familia reportada en Chile con diagnóstico molecular. Caso clínico

• Autores: Guillermo Conte, Miguel López, Pablo Alarcón
• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 146, Nº. 9, 2018, págs. 1074-1078
• Idioma: español
• Títulos paralelos:
  • Hereditary thrombocytopenia associated with a mutation in the MYH-9 gene. Report of one case
• Enlaces
  • Texto completo
• Resumen

  • We report a 51-year-old female who had a first episode of thrombocytopenia at 23 years of age during a pregnancy. At the age of fifty, a hysterectomy was indicated due to a metrorrhagia: a platelet count of 21,000/ul was detected. She was treated with eltrombopag with a good response. The family history of the patient revealed the presence of thrombocytopenia in several family members. Suspecting a hereditary thrombocytopenia, a genetic study revealed a mutation in the MYH-9 gene. This mutation can be suspected when there is a family history of thrombocytopenia with autosomal dominant inheritance, macrothrombocytopenia and in this particular case, due to the response to thrombopoietin receptor agonist, eltrombopag.