Acute Hepatic Porphyria: Understanding Symptoms, Causes & Diagnosis

Acute Hepatic Porphyria is a rare, inherited metabolic disorder that affects the liver. It is caused by a deficiency of an enzyme called porphobilinogen deaminase (PBGD). This enzyme is responsible for the breakdown of a compound called porphobilinogen, which is a precursor to the heme molecule. In acute hepatic porphyria, the deficiency of PBGD leads to a build-up of porphobilinogen and other porphyrins in the liver and other tissues, which can cause a variety of symptoms, including:

- Abdominal pain

- Nausea and vomiting

- Diarrhea

- Seizures

- Confusion

- Hallucinations

- Muscle weakness

- Paralysis

- Coma

Acute hepatic porphyria is typically triggered by certain factors, such as:

- Certain medications, such as barbiturates, sulfonamides, and estrogens

- Alcohol consumption

- Smoking

- Stress

- Menstruation

Treatment for acute hepatic porphyria typically involves:

- Stopping the trigger factor

- Administering intravenous fluids and pain medication

- Providing supportive care, such as ventilation and dialysis

- In severe cases, a liver transplant may be necessary