Porphyria is a group of genetic disorders that can affect the skin, nervous system, liver, and other organs. It occurs because of abnormalities in the body’s creation of the molecule heme.
Porphyria is a rare disease. Fewer than 200,000 Americans have porphyria, according to the American Porphyria Foundation.
Learn more about porphyria, including types, symptoms, and treatments.
What Causes Porphyria?
Porphyria happens when there’s a malfunction in the process by which your body synthesizes certain chemicals into heme. Heme is an essential molecule that helps to carry oxygen to cells in your body.
If there’s a disruption in the heme synthesizing process, toxic chemicals — called porphyrins or porphyrin precursors — build up in your cells, causing porphyria. Depending on the type of porphyria you have, the porphyrins or porphyrin precursors can build up in your liver or bone marrow.
Usually, porphyria is a genetic disorder — meaning you’re born with it. In rare cases, other medical conditions or medications can cause the condition.
“Porphyria, generally, is a hereditary disorder that’s passed down from generation to generation,” says Roy E. Smith, MD, professor of medicine, Center of Benign Hematology, University of Pittsburgh School of Medicine. “Rarely, it also can be acquired by medications or by people that have other disorders, such as hemolysis, where the blood is destroyed excessively, or in liver disease.”
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Types of Porphyria
There are eight different types of porphyria. They break down into two categories: acute hepatic porphyrias and cutaneous porphyrias. Cutaneous porphyrias can sometimes overlap with erythropoietic porphyrias or acute hepatic porphyrias.
Acute hepatic porphyrias generally involve the nervous system and feature severe abdominal pain and other gastrointestinal symptoms. Cutaneous erythropoietic porphyrias generally involve the skin and come with skin-related symptoms.
Types of acute hepatic porphyrias include:
- Acute intermittent porphyria.
- Variegate porphyria.
- Hereditary coproporphyria.
- Delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria.
Types of cutaneous erythropoietic porphyria, plus some hepatic porphyrias, include:
- Congenital erythropoietic porphyria.
- Erythropoietic protoporphyria.
- Hepatoerythropoietic porphyria.
- Porphyria cutanea tarda.
Acute intermittent porphyria is the most common overall type of acute hepatic porphyria, Dr. Smith says. The most common cutaneous porphyrias are erythropoietic protoporphyria and porphyria cutanea tarda.
Porphyria symptoms vary depending on the type you have. Acute hepatic types of porphyria tend to come with abdominal pain and related symptoms. Cutaneous porphyrias involve skin-related symptoms.
Acute hepatic porphyria symptoms
Common symptoms of acute hepatic porphyrias include:
- Severe pain in the abdomen or other areas, including the back, legs, or chest.
- Mental changes (anxiety, hallucinations, confusion, and seizures).
- Muscle weakness or paralysis.
- Urinary problems (reddish or reddish-brown urine, incontinence, or urine retention).
- Skin blisters when exposed to sunlight (for certain types of acute porphyria).
“All these porphyrias can present with severe abdominal pain or a generalized pain pattern,” Dr. Smith says. “The triggers for these are often medications that people take. And it can be the onset of menses for young girls, it can be the association of some other acute illness, such as an infection or gallstones, or some other cause of illness that would trigger it.”
Cutaneous porphyria symptoms
Common symptoms of cutaneous porphyrias involve the skin. Exposure to sunlight and/or artificial light may trigger these symptoms. Alcohol, hepatitis C, or other medical conditions may trigger symptoms of porphyria cutanea tarda.
Specific skin symptoms can vary by the type of cutaneous porphyria you have. Common symptoms may include:
- Blisters or wounds that can become infected.
- Painful, burning, or tingling skin.
- Changes in skin color.
- Excessive hair growth.
- Thin or fragile skin.
- Skin swelling.
How Is Porphyria Diagnosed?
Depending on the type of porphyria you have, diagnosis may involve blood, urine, or stool tests.
However, several factors can make diagnosing porphyria difficult. Porphyria is a rare disease that many doctors do not encounter.
Patients with acute hepatic porphyrias may only have one episode of severe acute pain. And the symptoms may also share similarities with other health conditions.
“These are rare diseases that doctors out in private practice and even in big universities very rarely see,” Dr. Smith says. “So, they very rarely think about it. And as a consequence, the diagnosis is missed very commonly for years and years and years.”
Because of that, many people with acute hepatic porphyria experience mental burdens such as anxiety, Dr. Smith says.
Can Porphyria Be Cured?
Porphyria is curable, but that typically involves a liver or bone marrow transplant. Because of that, treatment usually comes in the form of disease management.
A major part of treating porphyria comes with avoiding triggers. Depending on your type of porphyria, triggers may include sunlight, certain medications, alcohol, and even dieting. If you have a disease that can trigger porphyria, like hepatitis C, treating that condition can also help manage porphyria.
In addition to avoiding triggers, certain medications can help treat symptoms. For example, a drug called afamelanotide can slightly darken the skin. This can help people who have erythropoietic protoporphyria triggered by sunlight exposure.
Other drugs can manage other symptoms or triggers. If you have acute hepatic porphyria, you can treat it with a drug called hematin or a drug called givosiran. This inhibits heme precursor production and reduces painful episodes or other complications.
Treatment can improve people’s lives significantly, Dr. Smith says. But for treatment to become effective, doctors need to make the diagnosis of porphyria.
“These people undergo a life-changing experience with a treatment that they get,” Dr. Smith says. “But the diagnosis has to be made. Someone has to think about it. Someone has to know how to interpret the information to decide what type of porphyria they have.”
People with porphyria are at risk of other serious complications. Those complications include:
- Cirrhosis of the liver.
- Liver failure.
- Liver cancer.
- Kidney disease.
- High blood pressure.
- Numbness/tingling in the extremities.
- Breathing problems.
Because of these potential complications, getting a proper diagnosis and treatment is crucial.
“There’s no reason in the world for a person to have to suffer from this disorder as long as we can make the diagnosis,” Dr. Smith says. “And the only way that we can make the diagnosis is if people insist upon being evaluated, or at least have that discussion with their primary care provider. If you do have it, there’s things that we can do about it. We have the ability to change people’s lives with this.”
The Division of Hematology/Oncology at UPMC treats patients with cancer and blood disorders. For more information, visit us online.
The UPMC Adult Congenital Heart Disease (ACHD) Center is a joint program between UPMC Children’s Hospital of Pittsburgh and UPMC Heart and Vascular Institute. We provide long-term care for adolescents, young adults, maternal patients, and adults with congenital heart disease. Our goal is to provide complete care from your childhood all the way through your life. Our team of experts has a wide knowledge of heart conditions.