Acute Hepatic Porphyria

What is Acute Hepatic Porphyria?


Acute hepatic porphyria (AHP) is a group of rare genetic conditions that can cause severe, sudden (acute) symptoms. These symptoms can happen in various parts of the body and often require a hospital visit. There are four types of AHP which include:

  • acute intermittent porphyria,
  • variegate porphyria,
  • hereditary coproporphyria, and
  • ALAD-deficient porphyria.

It is estimated that 5 in every 100,000 persons have AHP. Most people with AHP start to develop symptoms when they are adults. While AHP can affect anyone, it is more common in women and Caucasians. People with AHP have a defective gene that leads to problems making heme, which is an important part of hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. This defect leads to the buildup of toxic chemicals in the body that can damage nerve cells and cause severe symptoms. Sometimes the AHP attacks can be life-threatening.

Most Common Symptoms of Acute Hepatic Porphyria

People with AHP can experience gastrointestinal, neurologic, psychiatric, cardiovascular, or skin symptoms. The most common symptom is abdominal pain which can be severe and last several hours.

Those with AHP can also experience chronic symptoms. These are symptoms that last a long time and may include:

  • anxiety
  • depression
  • fatique- feeling overly tired or having low energy
  • nausea- feeling of sickness in the abdomen, stomach, chest, or head with feeling an urge to vomit
  • pain- physical discomfort and/or suffering in the body

Gastrointestinal Symptoms of AHP

AHP often affects the GI tract and can cause:

  • Pain and/or discomfort in the belly area (stomach and intestines)
  • Nausea
  • Vomiting
  • Constipation
  • Diarrhea

Neurological Symptoms of AHP

AHP also commonly leads to neurologic and psychiatric symptoms. The symptoms are related to the nervous system, including the brain, spinal cord, and nerves of the body. Symptoms that impact the nervous system include:

  • Pain in arms, legs, chest, back, neck, or head
  • Muscle weakness
  • Mental symptoms like agitation, confusion, depression, and/or hallucinations
  • Seizures

Patients can also experience fast heart rate, high blood pressure, dark or reddish urine, and skin blisters on areas exposed to the sun, among others.

Learn more about diagnosing and treating acute hepatic porphyria

Adapted from IFFGD’s publication #581 Understanding Acute Hepatic Porphyria by Christopher V. Almario, MD, MSHPM; Cedars-Sinai Medical Center, Karsh Division of Gastroenterology and Hepatology

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IFFGD is a nonprofit education and research organization. Our mission is to inform, assist, and support people affected by gastrointestinal disorders.

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