Acute porphyrias: unspecific manifestations and specific therapeutic management

Porfirias agudas: manifestaciones inespecíficas y manejo terapéutico específico

This was a clinical, scientific, theoretical and documental review aimed to conduct a revision on the approach, diagnosis and treatment of acute porphyria. A descriptive, quantitative and theoretical methodology was used, allowing a bibliographic review of the studies on acute porphyria, an unusual congenital disorder characterized by the deficiency of specific enzymes involved in the heme group biosynthesis. This disease importance lies on being confused with other conditions due to its complex clinical manifestations leading to a delayed diagnosis which may become life-threatening thus it is known as a silent disease In conclusion, identifying the precipitating factors of acute attacks for its high morbidity and mortality, as well as achieving a rapid and timely diagnosis by using a quantitative or qualitative determination of PBG (porphobilinogen)) and ALA (delta-aminolevulinic acid) levels, deserve special attention.

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