Porphyria: Symptoms, Treatment

Overview

Porphyria refers to a group of disorders that affect your skin and nervous system. These disorders result from a buildup of natural chemicals that produce porphyrin in your body. Although porphyrins are essential for the function of hemoglobin, high levels of porphyrins can lead to significant problems.

Porphyria can be divided into acute porphyrias and cutaneous porphyrias. The former one mainly affects the nervous system, while the latter mainly affects the skin. Both nervous symptoms and skin symptoms show up in some types of porphyria.

The exact prevalence of porphyria is not clear. It is estimated that the prevalence ranges from 1 in 500 to 1 in 50,000 people worldwide.

Symptoms

Signs or symptoms can vary widely, depending on the type and severity of porphyria. Some people with porphyria caused by the gene mutations never have any symptoms.

Acute porphyrias

Symptoms of acute porphyrias appear quickly and can be severe. They may last days to weeks and usually improve after the attack. The most common form of acute porphyria is acute intermittent porphyria.

People with acute porphyria may experience:

  • Severe abdominal pain
  • Pain in your chest, legs or back
  • Constipation or diarrhea
  • Nausea and vomiting
  • Muscle pain, tingling, numbness, weakness or paralysis
  • Red or brown urine
  • Mental changes, such as anxiety, confusion, hallucinations, disorientation or paranoia
  • Breathing problems
  • Urination problems
  • Rapid or irregular heartbeats you can feel (palpitation)
  • High blood pressure
  • Seizures

Cutaneous porphyrias

Symptoms of cutaneous porphyrias occur when your sensitive skin is exposed to sunlight. The most common form of all the porphyrias is porphyria cutanea tarda (PCT).

Symptoms include:

  • Sensitivity to the sun and sometimes artificial light, causing burning pain
  • Sudden painful skin redness (erythema) and swelling (edema)
  • Blisters on exposed skin, usually the hands, arms and face
  • Fragile thin skin with changes in skin color (pigment)
  • Itching
  • Excessive hair growth in affected areas
  • Red or brown urine

Causes

All types of porphyria result from a problem in the production of heme. This production occurs in the bone marrow and liver, involving eight different enzymes. If you have a shortage of a specific enzyme, you will have a certain type of porphyria.

Porphyrins accumulate in the skin of people with cutaneous porphyria. Once the skin is exposed to sunlight, symptoms will show up. In people with acute porphyrias, the nervous system is damaged by the buildup.

Genetic forms

Most forms of porphyria are genetic forms. You will have these forms if you inherit:

  • A defective gene from one of your parents (autosomal dominant pattern)
  • Defective genes from both parents (autosomal recessive pattern)

In most cases, carriers of the abnormal genes never have symptoms because they have what’s called latent porphyria.

Acquired forms

Porphyria cutanea tarda (PCT) is typically acquired. Certain triggers may impact enzyme production and lead to symptoms. These triggers involve:

  • Too much iron in the body
  • Liver disease
  • Estrogen medication
  • Smoking
  • Excessive alcohol use

Diagnosis

Since many other common diseases have the same symptoms, this rare condition is difficult to diagnose.

Doctors use lab tests to make a diagnosis of porphyria and determine its form. Based on the suspected type of porphyria, different tests will be used, including a combination of blood, urine or stool testing.

Treatment

Avoiding triggers

  • Not using medications known to trigger acute attacks

Ask your doctor for a list of safe and unsafe drugs.

  • Not using alcohol or recreational drugs
  • Avoiding fasting and dieting that involves severe calorie restriction
  • Not smoking
  • Taking certain hormones to prevent premenstrual attacks
  • Minimizing sun exposure

When you’re outdoors, wear protective clothing, and use an opaque blocking sunscreen, such as one with zinc oxide. When indoors, use window filters.

  • Treating infections and other illnesses promptly
  • Taking steps to reduce emotional stress

Treatment for acute porphyrias

Treatment for acute porphyrias aims to provide rapid treatment of symptoms and prevent complications, including:

  • Injections of hemin, a medication that is a form of heme, to limit the body’s production of porphyrins
  • Intravenous sugar (glucose), or sugar taken by mouth, if able, to maintain an adequate intake of carbohydrates
  • Hospitalization for treatment of symptoms, such as severe pain, vomiting, dehydration or problems breathing

Treatment for cutaneous porphyrias

The goal of treatment for cutaneous porphyrias is to reduce exposure to triggers and reduce the number of porphyrins in your body. It may involve:

  • Periodically drawing blood (phlebotomy) to reduce the iron in your body, which decreases porphyrins
  • Taking a drug used to treat malaria
  • A dietary supplement to replace vitamin D deficiency caused by avoidance of sunlight


Keyword: porphyria.

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* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.