Genetic Polymorphism in Porphyria: Resolution of A Case of Tetraplegia by Administration of Hemin During a Porphyric Crisis and Subsequent Therapeutic Procedure with the use of Givosiran

Author(s): Guida CC, Nardella M, Perez Ys A, Recchia A, Tonti MP, Savino M, Crisetti A, Napolitano F, Ferrara G, Aucella F, Manuali A, Aucella F. ORCID ID 0000-0003-1027-7049

Porphyria is a very rare genetic pathology due to congenital defects of heme metabolism with deficiency of one of the enzymes that determine specific forms of porphyria. Acute hepatic porphyrias (AEP) includes four different clinical forms: a) from ALA D deficiency, b) acute intermittent porphyria, c) hereditary coproporphyria and d) variegate porphyria. The forms of porphyria are characterized by elevated levels of delta aminolevulinic acid (ALA) and porphobilinogen (PBG). Acute intermittent porphyria (AIP) is caused by a genetic mutation of hydroxymethylbilane synthetase (HMBS), which in a good percentage (about 20% of cases) does not show a positivity for hepatic porphyria on biomolecular examination, so that diagnosis with relative therapy is determined by the clinical condition. Our study describes a 54-year-old woman who, due to a porphyria crisis, presented serious symptoms with progressive aggravation that lead her to be hospitalized in an intensive care unit where she was intubated due to tetraplegia and severe respiratory failure. Treatment with human emin first and Givosiran subsequently allowed progressive amelioration of the clinical conditions.