Porphyria

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What is porphyria?

Porphyria the name used for a wide variety of disorders related to problems in producing the substance known as heme. Heme is an iron-rich molecule that is found primarily in hemoglobin in the blood, which carries oxygen to the entire body. When heme is not produced appropriately, chemicals known as porphyrins can build up in the body, leading to the disease called porphyria. Because the production of heme is complex and many individual processes can result in abnormal heme production, there are many types of porphyria. These many types can be broadly divided into two categories, acute and cutaneous.

Acute porphyrias affect the nervous system. These types of porphyria are mainly inherited or genetic. Symptoms, which occur sporadically, include abdominal pain, numbness or tingling, cramping, vomiting, and mental disorders. Acute porphyrias are treated with medication and, in some cases, hospitalization.

Cutaneous porphyrias affect the skin. Like acute porphyrias, they are primarily genetic in nature. Symptoms include blisters and swelling when the skin is exposed to sunlight. The primary treatment for cutaneous porphyria is the avoidance of sunlight.

Both types of porphyria are lifelong conditions that can range from mild, with no symptoms, to severe. Symptoms can be triggered by a variety of factors, including sunlight, drugs, stress, hormonal changes, smoking, and alcohol consumption. In porphyria cutanea tarda, a typically nonhereditary form of porphyria, liver enzyme levels involved with heme production are depleted, which can lead to the cutaneous symptoms of porphyria. Since porphyria is often inherited, genetic counseling may be helpful for people with porphyria.

In some cases, acute porphyria attacks can lead to immediately life-threatening symptoms, including paralysis of the muscles that control breathing. Seek immediate medical care (call 911) if you have seizures, hallucinations, difficulty breathing, severe anxiety, paralysis, or sudden weakness.

What are the symptoms of porphyria?

Although porphyria can often remain latent for years, your symptoms can occur sporadically or be triggered by stress, hormones, or substances such as alcohol, tobacco, and certain medications. Symptoms of porphyria include both cutaneous (skin-related) and generalized symptoms. Skin symptoms include blisters, changes in pigmentation, and breakdown of the skin when exposed to sunlight. This can lead to infection and scarring.

Acute porphyria symptoms are neurological (originating in the nervous system) and can include both abdominal symptoms, such as pain, nausea, vomiting, diarrhea and constipation, and mental symptoms, such as seizures, anxiety and hallucinations. Such neurological symptoms of porphyria can be severe, and medical treatment should be obtained for seizures, hallucinations, muscle paralysis, difficulty breathing, or severe anxiety.

Acute symptoms of porphyria

Acute symptoms of porphyria originate in the nervous system and can occur sporadically. Symptoms can be triggered by a variety of mental, emotional and environmental stresses, as well as by drugs, alcohol or smoking. Acute symptoms of porphyria include:

Skin symptoms of porphyria

Skin symptoms of cutaneous porphyria occur most commonly with exposure to sunlight and can lead to infection. Skin symptoms include:

  • Blistering of the skin
  • Changes in skin pigmentation
  • Fragile, easily damaged skin

Serious symptoms that might indicate a life-threatening condition

In some cases, acute porphyria can be life threatening. Seek immediate medical care (call 911) if you, or someone you are with, have any of these life-threatening symptoms including:

  • Changes in mood, personality or behavior
  • Difficulty breathing or rapid breathing
  • Hallucinations
  • Muscle paralysis or weakness
  • Seizures

What causes porphyria?

Porphyria is usually inherited. It occurs when one of the eight genes involved in the production of heme, the substance in hemoglobin that transports oxygen, has a mutation that is passed from parents to their children. Genetic counseling may be helpful for those with a family history of porphyria.

In addition to hereditary porphyria, one common subtype, porphyria cutanea tarda, appears to be associated with both environmental and genetic factors, but it is typically not inherited.

What are the risk factors for porphyria?

A number of risk factors increase the risk of developing porphyria. Not all people with risk factors will get porphyria. Risk factors for porphyria include:

  • Alcohol consumption
  • Family history of porphyria
  • Northern European ancestry
  • Pregnancy
  • Steroid hormones
  • Viral infections

Reducing your risk of porphyria

While porphyria is usually a genetic condition and cannot be controlled, you may be able to reduce the risk of acute porphyria symptoms by avoiding situations that trigger the disease. Although some triggers, such as menstruation and increased iron storage in the body, are difficult to avoid, other triggers may be avoidable including:

  • Alcohol use
  • Drug use
  • Excessive sun exposure
  • Infections
  • Physical or emotional stress
  • Smoking

How is porphyria treated?

Treatment for porphyria depends on the type of porphyria you have.

Treatment of acute porphyria

If you have cutaneous porphyria, treatment usually involves avoiding sunlight and, occasionally, using medications or intravenous hemin.

If you have acute attacks of porphyria, several treatments can be used to control your neurological symptoms and defective heme production:

  • Beta-carotene supplements
  • Fluid or carbohydrates, which can help limit porphyrin production
  • Intravenous hematin
  • Propranolol to control rapid heart rate (tachycardia)
  • Sedatives for anxiety and hallucinations
  • Pain medications
  • Phlebotomy (blood draws) to remove excessive porphyrins

People with porphyria, especially with liver-related or acute symptoms, are encouraged to avoid triggers of porphyria outbreaks, such as stress, alcohol and drugs.

What are the potential complications of porphyria?

Both cutaneous and acute porphyria can have serious, even life-threatening, complications. People with cutaneous porphyria may experience serious infections or permanent damage to the skin. Those with acute porphyria are at risk for neurological disorders ranging from mental disturbances to paralysis of the lung muscles, potentially leading to respiratory failure and the inability to breathe.

You can help minimize your risk of serious complications by following the treatment plan you and your health care professional design specifically for you. Complications of porphyria include:

  • Adverse effects of treatment
  • Coma
  • Gallstones
  • Liver or kidney damage
  • Paralysis
  • Respiratory failure
  • Scarring and skin disfigurement
  • Skin infections
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Medical Reviewer: William C. Lloyd III, MD, FACS
Last Review Date: 2020 Nov 30
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THIS TOOL DOES NOT PROVIDE MEDICAL ADVICE. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. Never ignore professional medical advice in seeking treatment because of something you have read on the site. If you think you may have a medical emergency, immediately call your doctor or dial 911.
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