Hepatic porphyria: A narrative review.

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Porphyrias are a group of metabolic disorders stemming from abnormalities in heme biosynthetic pathway enzymes.
• They are classified into hepatic and erythropoietic types, and clinically into acute neurovisceral and cutaneous blistering forms.

Purpose of the Study:

• To review hepatic porphyrias, including acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT).
• To outline diagnostic approaches and management strategies for acute and cutaneous hepatic porphyrias.

Main Methods:

• Diagnostic screening involves porphobilinogen levels for acute hepatic porphyria and plasma/urine porphyrin levels for cutaneous porphyria.
• Specific biochemical porphyrin profiles are used for definitive diagnosis.
• Management includes pain relief, trigger avoidance, intravenous glucose for mild attacks, intravenous hemin for moderate-to-severe attacks, and liver transplantation for refractory cases.

Main Results:

• Porphyria cutanea tarda (PCT) is the most common cutaneous porphyria, often linked to alcohol, smoking, infections (HCV, HIV), estrogen use, and hemochromatosis gene mutations.
• Phlebotomy and low-dose hydroxychloroquine are effective treatments for PCT.
• Acute attacks are managed with glucose and hemin, with liver transplantation as a curative option for severe or recurrent cases.

Conclusions:

• Hepatic porphyrias encompass a range of disorders with distinct clinical and biochemical profiles.
• Timely diagnosis through biochemical testing and appropriate management, including lifestyle modifications and specific therapies, are crucial for patient outcomes.
• Liver transplantation offers a curative solution for severe, treatment-refractory porphyrias.