ACUTE HEPATIC PORPHYRIA AND WOMEN’S HEALTH: WHEN TO SUSPECT AND HOW TO TREAT?

Abstract

Acute hepatic porphyrias (AHP) are rare, inherited disorders related to impaired heme biosynthesis, most commonly affecting women of reproductive age. Clinical presentation is diverse and non-specific, including severe abdominal pain, neurological, and psychiatric symptoms, which often delays diagnosis. This article reviews key pathophysiological mechanisms, triggering factors, and emphasizes the particular aspects of women’s health and the impact of pregnancy on the disease course. Diagnostic approaches are discussed, highlighting the importance of urinary ALA and PBG testing and the role of genetic confirmation. Treatment strategies include the use of hemin for acute attacks, the preventive role of givosiran, and the importance of lifestyle modifications. Early diagnosis and appropriate treatment significantly improve patient outcomes and quality of life.