A challenging diagnosis for potential fatal diseases: Recommendations for diagnosing acute porphyrias

• Acute porphyrias are metabolic rare diseases.
• Their clinical exacerbation (acute porphyric attack, APA) may be difficult to diagnose.
• If misdiagnosed or inappropriately treated, APA can be fatal.
• For diagnosis of APA, the knowledge and the use of appropriate diagnostic tools are mandatory.
• We review the different steps for diagnosing APA and different kinds of acute porphyrias.

Acute porphyrias are a heterogeneous group of metabolic disorders resulting from a variable catalytic defect of four enzymes out of the eight involved in the haem biosynthesis pathway; they are rare and mostly inherited diseases, but in some circumstances, the metabolic disturbance may be acquired. Many different environmental factors or pathological conditions (such as drugs, calorie restriction, hormones, infections, or alcohol abuse) often play a key role in triggering the clinical exacerbation (acute porphyric attack) of these diseases that may often mimic many other more common acute medical and neuropsychiatric conditions and whose delayed diagnosis and treatment may be fatal. In order to obtain an accurate diagnosis of acute porphyria, the knowledge and the use of appropriate diagnostic tools are mandatory, even in order to provide as soon as possible the more effective treatment and to prevent the use of potentially unsafe drugs, which can severely precipitate these diseases, especially in the presence of life-threatening symptoms.In this paper, we provide some recommendations for the diagnostic steps of acute porphyrias by reviewing literature and referring to clinical experience of the board members of the Gruppo Italiano Porfiria (GrIP).