A large group of countries constitute Latin American (LATAM) countries, where hemophilia care is as varied as the landscape of this region. To better understand the care provided to persons with bleeding disorders, especially hemophilia, a symposium was organized as part of the CLAHT Congress 2021 in Colombia to highlight the issues of hemophilia care and challenges faced by persons with hemophilia in four LATAM countries, Colombia, Peru, Argentina, and Mexico. A summary of the symposium is provided. Four clinicians highlighted the issues in their own country, the status, and the path forward to bring the standard of care to the international level in each of these countries. The geography of the country, the health infrastructure, and the resources available are obstacles in these countries to provide state-of-the-art care to the bleeding disorder community. However, depending on the country, its infrastructure and the resources available, progress is being made to upend the care provided. Indeed, the care of persons with hemophilia has been greatly improved, including personalized prophylaxis. The information summarized here first emphasizes how the geography of a country and the different healthcare infrastructures play a major role in how care is offered. It also provides a path for other countries to evaluate these issues in their own realities. In parallel, these data provide hope to many developing countries; despite obstacles, strides can be made in the care of the bleeding disorder community.
Las porfirias son enfermedades metabólicas hereditarias por déficit enzimático parcial o total en la vía de síntesis del grupo hemo, lo cual lleva a acumulación de porfirinas y precursores tóxicos en los tejidos. La presentación clínica es heterogénea según la enzima afectada, con aumento en la excreción de las porfirinas y/o precursores, lo cual permite el diagnóstico. En el caso de porfiria aguda intermitente, se establece un déficit de porfobilinógeno deaminasa. El tratamiento se basa en aporte metabólico adecuado y suministro de hemina humana. Se describe el caso de una paciente de 17 años de edad con síntomas gastrointestinales recurrentes, desequilibrio hidroelectrolítico severo durante su hospitalización, con cambio de coloración de la orina a la exposición solar y porfirinas en orina aumentadas, por lo que se establece soporte metabólico y posteriormente tratamiento dirigido con hemina humana por la alta sospecha, obteniendo varios días después reporte de niveles elevados de ácido delta amino levulínico. Se concluye que, a pesar de ser un diagnóstico de exclusión, debe considerarse como diferencial, especialmente ante la recurrencia de la sintomatología, sin etiología común identificada y se hace necesario el rápido inicio de medidas generales y manejo dirigido con hemina humana.
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