Enfermedad de Gaucher, diagnostico en el embarazo, reporte de caso y consideraciones de su tratamiento en Colombia / Gaucher disease, diagnosis in pregnancy, report case study and considerations of its treatment in Colombia

RESUMEN Introducción y Objetivo: La enfermedad de Gaucher es una condición autosómica recesiva de baja prevalencia, de difícil diagnóstico y manejo, especialmente en embarazo. Reportamos una gestante con enfermedad de Gaucher manejada desde la semana 15,3 hasta el término del embarazo con Taliglucerasa en la Unidad de Alta Complejidad Obstétrica, en la Fundación Valle del Lili en Cali, Colombia. Métodos: Reporte de caso de gestante con diagnóstico de enfermedad de Gaucher diagnosticada durante el embarazo, con exacerbación de síntomas, quien presento severa pancitopenia y esplenomegalia. Resultados: El manejo medico interdiscilplinario permitió el control del severo deterioro clínico de la paciente durante el parto, presentó hemorragia postparto con choque hipovolémico, con adecuada respuesta al manejo médico. La madre y el neonato fueron dados de alta sin otras complicaciones asociadas. Conclusión: El manejo interdisciplinario es indispensable en gestantes con esta entidad para lograr buenos resultados maternos y perinatales.

ABSTRACT Introduction and Objective: Gaucher disease is a low prevalence autosomal recessive condition, difficult to diagnose and manage especially during pregnancy. We reported a pregnant woman with Gaucher disease managed with Taliglucerase in a critical care obstetric unit from week 15.3 until the end of her pregnancy, at the Fundación Valle del Lili, Cali, Colombia. Methods: A case report of a pregnant woman diagnosed during her pregnancy with Gaucher disease, who presented severe pancytopenia and splenomegaly. Results: The interdisciplinary medical management allowed the control of the severe clinical deterioration of the patient. During the delivery, she presented postpartum hemorrhage with hypovolemic shock, which resolved with medical management. The mother and the newborn were discharged without other associated complications. Conclusion: Interdisciplinary management is essential for handling a critically ill obstetric patient with Gaucher disease, and to achieve good maternal and perinatal outcomes.

Outcome of Gaucher Disease in India: Lessons from Prevalent Diagnostic and Therapeutic Practices.

Objectives: To study disease severity and response to enzyme replacement therapy in Gaucher disease. Methods: Updated data was captured from records of 37 patients (35 reported previously) with confirmed diagnosis of Gaucher disease from January 1995 through December 2011 (31, 83.8 %) and prospectively from January 2012 through June 2013 (6, 16.2 %). Severity of manifestations was determined by Gaucher disease Severity Score Index. Response to enzyme replacement therapy was assessed in terms of attainment of therapeutic goals. Results: Moderate to severe manifestations (domain score of > 2) were observed in treated patients at baseline (83%, 58%, 66% and 25% for anemia, thrombocytopenia, hepatomegaly and leucopenia, respectively and 100% for splenomegaly and elevated plasma chitotriosidase). None of the 11 patients treated with synthetic enzyme (average annual dose 23 to 53 units/kg) attained all therapeutic goals in the recommended time frame, particularly the visceral, skeletal and growth domains. Conclusions: Early onset of moderate to severe disease in Indian patients mandates early therapy with optimum doses to ensure attainment of all recommended therapeutic goals.