What Is Acute Hepatic Porphyria?

Acute hepatic porphyria (AHP) is one of a group of disorders that are triggered by a buildup of pigments called porphyrins in your liver and elsewhere. The disorder can cause nerve problems and other symptoms.

There’s no cure, but treatment can help you feel better.

What Causes Acute Hepatic Porphyria?

Porphyrins are natural chemicals in your body. They are made by your body when it creates something called heme.

Heme is part of hemoglobin -- the protein in red blood cells that carries oxygen from your lungs to the rest of your body. It's critical for many body functions, like in the liver and muscles. It's also found in bone marrow.

When heme is made in your bone marrow and liver, eight enzymes are needed for the process to work properly. If there's a shortage in one of those enzymes, your levels of porphyrins could go up. Which of the eight enzymes is low and where the porphyrins are in your body determine which type of porphyria you have. With acute hepatic porphyria, there is a buildup of porphyrins in your liver.  

That can cause problems, usually in your skin or with your nerves. You could also have:

  • Dark urine
  • Sensitive skin
  • Belly pain
  • Nausea
  • Seizures

An attack usually starts with severe stomach pain and can last for days. You'll usually need to go to the hospital for treatment.

Who Gets It

In most cases, porphyria is inherited, meaning you have the genes for the disease passed down from your parents.

But just because you have the genes doesn’t mean you'll have symptoms. Most people who have the gene for the disease never show signs of AHP.

You might have lab tests to find out if you have AHP. Because its symptoms are general and match so many other diseases, it can be hard to diagnose. Your doctor might suggest blood, urine, or stool testing to see if you have porphyria.

Attacks can be triggered by other things, including:

  • Specific drugs, including barbiturates, tranquilizers, birth control pills, and sedatives
  • Drinking alcohol
  • Smoking
  • Dieting or fasting
  • Stress

A healthy, well-rounded diet is important if you have this disorder. Experts caution that carbs are important, so eating plans with few carbs may not be a good choice.

WebMD Medical Reference Reviewed by Arefa Cassoobhoy, MD, MPH on February 10, 2020

Sources

SOURCES:

Mayo Clinic: “Porphyria.”

Kothadia, J. “Acute Hepatic Porphyria,” StatPearls Publishing, 2019.

University of Rochester Medical Center: “Porphyrins (Urine).”

Rare Diseases Clinical Research Network: “Frequently asked questions about the porphyrias.”

UCSF Health: “Hepatic Porphyria.”

Journal of Clinical and Translational Hepatology: “Acute Hepatic Porphyria.”

American Porphyria Foundation: “About Porphyria.”

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