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Time is of the Essence: Using Extended Hemin Treatment for a Case of Severe Acute Intermittent Porphyria

Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a...

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Detalles Bibliográficos
Autores principales: Kumar, Smriti Rajita, Byrnes, Diana, Mahfouz, Mahmoud, Rosenblatt, Joseph, Levy, Cynthia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9270598/
https://www.ncbi.nlm.nih.gov/pubmed/35822158
http://dx.doi.org/10.14309/crj.0000000000000827
Descripción
Sumario:Acute intermittent porphyria (AIP) is a disorder that affects heme synthesis, leading to accumulation of upstream precursors, and can cause an array of visceral and neurological symptoms. These can be severely debilitating and even fatal if not diagnosed and treated in a timely fashion. We outline a rare case of severe AIP masquerading as ascending polyneuropathy and how it was correctly diagnosed and treated with an extended course of hemin despite initial barriers to biochemical testing for AIP.