Signs and Symptoms of Acute Hepatic Porphyria

Acute hepatic porphyria (AHP) happens when your body doesn't make a substance called heme the way it should. Heme, a part of red blood cells, does a lot of vital things, like carry oxygen throughout your body.

You may feel AHP in a different way than someone else. And your doctor may mistake your symptoms for those of another disease, which can delay your diagnosis.

Your doctor can help you manage AHP. But you need to know what signs and symptoms to look out for. If left untreated, AHP can be life-threatening.

What to Look For

Your first AHP attack usually won’t show up until after puberty. And it’s more likely to happen if you’re a woman between ages 14 and 45. You may notice that your symptoms are worse during the second half of your menstrual cycle.

It's possible to have more than one attack during your life. During one, your symptoms may get worse over the course of a few days or longer. Without treatment, they may last weeks or months.

AHP can bring a wide range of symptoms that can happen all over your body. They might include:

Serious belly pain. This is the most common symptom. The ache is usually spread out across your whole belly. It may hurt so much that your doctor might think you should have an unneeded surgery.

Other stomach problems. You may get nauseated or throw up, and your belly could get really swollen. A blockage in part of your small intestine is also possible.

Muscle aches. Your neck, back, chest, butt, arms, and legs may hurt. Your pain may get worse over several days.

Constipation or diarrhea. You may have trouble pooping. Less often, you may poop too much.

Pee changes. Your urine may look dark or reddish. You could have a hard time peeing.

Numbness or tingling. Nerve damage can give you a “pins and needles” feeling in your arms or feet. 

Weakness or paralysis. AHP can affect the nerves that control your muscles. You may get weakness in your legs, belly, and arms. Without treatment, you may lose the ability to move.

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Mood changes. You may get irritated, agitated, or feel like you need to move around. It’s also common to worry a lot or feel depressed and lose interest in activities or get confused. You could also see things that aren’t there or get really paranoid.

Less energy. Chronic fatigue could happen. You could get a really strong urge to sleep. That’s called somnolence. In serious cases, you could go into a coma.

Insomnia. That means you’ll have trouble falling or staying asleep.

Low levels of electrolytes. Low sodium levels, or hyponatremia, can be an early sign of AHP. You could also get low levels of magnesium in your blood. Your doctor may call that hypomagnesia.

Sun sensitivity. Some people with AHP get blisters on your skin when they're out in the sun.

In rare cases, the muscles that control your lungs may stop working, which can affect your breathing. This is life-threatening and requires medical attention right away.

During attacks, you may have:

  • A faster than normal or irregular heartbeat
  • High blood pressure
  • Seizures
  • Low sodium in your blood

If you have AHP for a long time, you can get serious conditions like chronic kidney disease, cirrhosis (scarring of the liver), or liver cancer.

When to See Your Doctor

If you think you have AHP, see your doctor. There are treatments that can help you manage and prevent attacks, including lifestyle changes and medication. 

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

Sources

SOURCES:

Clinical Advances in Hematology & Oncology: “What Hematologists Need to Know About Acute Hepatic Porphyria.”

Journal of the American Heart Association: “Role of Heme in Cardiovascular Physiology and Disease.”

Hepatology Communications: “Acute Hepatic Porphyrias: Review and Recent Progress.”

American Porphyria Foundation: “Acute Intermittent Porphyria (AIP).”

Merck Manual: “Acute Intermittent Porphyria.”

NIH: Genetic and Rare Diseases Information Center (GARD): “Acute intermittent porphyria.”

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

National Organization for Rare Disorders (NORD): “Acute Intermittent Porphyria.”

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