Definition

What is porphyria?

Porphyria is a group of rare inherited blood disorders characterized by the inability to make heme, a component of hemoglobin (protein in red blood cells that carries oxygen) properly. Heme is made of two components porphyrin (a naturally-occurring organic compound in the body) bound to iron. Heme plays a vital role in carrying oxygen and also giving red blood cells their color. It is also found in myoglobin, a protein in the heart and skeletal muscles.

To make heme, our body needs to go through several steps. However, in people with porphyria, the body lacks some certain enzymes needed to complete this process, causing porphyrin to accumulate in tissues and blood. This may cause a variety of symptoms, ranging from mild to severe.

How common is porphyria?

The frequency of porphyria is unclear. It is estimated that it affects 1 to 100 per 50,000 people. Rates vary around the world

However, it can be managed by reducing your risk factors. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of porphyria?

Depending on the type of porphyria, signs and symptoms may be different. Severe abdominal pain is present in all types, as well as urine that is reddish-brown in color. This is caused by the build-up of porphyrins, and typically occurs after an attack.

Some common signs and symptoms associated with hepatic disease include:

  • Limb pain
  • Neuropathy
  • Hypertension
  • Tachycardia (fast heartbeat)
  • Electrolyte imbalance

Symptoms associated with erythropoietic disease include:

  • Extreme skin sensitivity to light
  • Anemia (when the body does not produce enough new RBCs)
  • Changes in skin pigmentation
  • Erratic behavior related to sun exposure

When should I see my doctor?

Early diagnosis and treatment can stop this condition from worsening and prevent another medical emergency, so talk to your doctor as soon as possible to prevent this serious condition.

If you have any signs or symptoms listed above or have any questions, please consulting with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes porphyria?

Porphyria is a genetic disease. According to The Journal of Family Planning (JFP), most types of porphyria are autosomal dominant, meaning that a person only inherits the abnormal gene from one parent. However, certain factors may trigger symptoms, known as “attacks.” Factors include:

  • Drugs
  • Infection
  • Alcohol use
  • Certain hormones, such as estrogen
  • Sunlight

Risk factors

What increases my risk for porphyria?

You may have higher risks for this condition if you are experiencing these following conditions:

  • Certain drugs (barbiturates or sulfonamide antibiotics or, less often, birth control pills, or some drugs that affect the mind or behavior, known as psychoactive drugs)
  • Chemicals
  • Dieting or fasting
  • Smoking
  • Physical stress, such as infections or other illnesses
  • Liver disease
  • Emotional stress
  • Alcohol use
  • Menstrual hormones
  • Sun exposure
  • Excess iron in your body

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is porphyria diagnosed?

If your doctor suspects that you may experience this condition, a physical examination will be performed.

Some tests may be ordered by your doctor include:

Urine test

If you have a form of acute porphyria, a urine test may reveal elevated levels of two substances: porphobilinogen and delta-aminolevulinic  acids, as well as other porphyrins.

Blood test

If you have a form of cutaneous porphyria, a blood test may show an elevation in the level of porphyrins in your blood plasma.

Stool sample test

Analysis of a stool sample may reveal elevated levels of some porphyrins that may not be detected in urine samples. This test may help your doctor determine your specific type of porphyria.

How is porphyria treated?

Depending on the stage of porphyria, there are some treatment options:

Acute porphyrias

Treatment of acute porphyrias focuses on providing rapid treatment of symptoms and preventing complications. This may require hospitalization in severe cases. Treatment may include:

  • Stopping medications that may have triggered symptoms
  • Medication to control pain, nausea and vomiting
  • Prompt treatment of infections or other illness that may have caused symptoms
  • Intravenous sugar (glucose) or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates
  • Intravenous fluids to combat dehydration
  • Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrin

Cutaneous porphyrias

Treatment of cutaneous porphyrias focuses on reducing exposure to sunlight and the amount of porphyrins in your body to help eliminate your symptoms. This may include:

  • Drawing blood (phlebotomy)

Drawing a certain amount of blood from one of your veins reduces the iron in your body, which decreases porphyrins.

  • Medication

Drugs used to treat malaria, hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen), can absorb excess porphyrins and help your body get rid of them more quickly than usual.

  • Beta carotene

Long-term treatment of cutaneous porphyrias may include daily doses of prescription beta carotene. Beta carotene may increase your skin’s tolerance to sunlight.

  • Reducing or eliminating triggers

Triggers, such as certain medications or too much sunlight, which activated the disease, should be reduced or removed if possible, with guidance from your doctor.

  • Vitamin D

Supplements may be recommended to replace vitamin D deficiency caused by avoidance of sunlight.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage porphyria?

Porphyria cannot be prevented. However, symptoms can be reduced by avoiding or eliminating triggers.

Factors that should be eliminated include:

  • Recreational drugs
  • Mental stress
  • Excessive drinking
  • Certain antibiotics

Preventing erythropoietic symptoms focuses on reducing light exposure by:

  • Staying out of bright sunlight
  • Wearing long sleeves, hats, and other protective clothing while outside
  • Asking for protection during surgery, in rare cases phototoxic injury can occur

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: July 11, 2017 | Last Modified: July 11, 2017

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