Disease Information

What is Porphyria?

Porphyria is the umbrella term for a group of rare conditions that involve a molecule called ‘heme’ or ‘haem’. Heme contains iron and is used in metabolic processes throughout the body. Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme.

While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system.

More women than men are affected by porphyria.

In most cases, a combination of genetic and environmental factors trigger porphyria symptoms. There is no cure for porphyria, but by avoiding triggers, development of symptoms of porphyria can be prevented. Treatments are available to manage the symptoms.

Symptoms of Porphyria

Symptoms depend on the type of porphyria. Severe abdominal pain is present in all types, as well as urine that’s reddish-brown in color. This is caused by the buildup of porphyrins and typically occurs after an attack.

Symptoms associated with hepatic disease include:

• Limb pain
• Neuropathy
• Hypertension
• Tachycardia (fast heart rate)
• Electrolyte imbalance

Symptoms associated with erythropoietic disease include:

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

Causes of Porphyria

Porphyria is a genetic disease. According to the National Institutes of Health (NIH)Trusted Source, most types of porphyria are inherited from an abnormal gene, called a gene mutation, from one parent.

However, certain factors may trigger symptoms of porphyria, known as attacks. Factors include:

• Use of certain medications
• Use of hormones, such as estrogen
• Alcohol use
• Smoking
• Infection
• Exposure to sunlight
  stress
  dieting and fasting

Diagnosis and Testing of Porphyria

Many tests can help diagnose this condition.

Tests that look for physical problems include:

• Computed tomography (CT) scan
• Chest X-ray
• Echocardiogram (EKG)

Tests for blood problems include:

• Urine test for fluorescence
• Porphobilinogen (PBG) urine test
• Complete blood count (CBC)

Complications of Porphyria

Porphyria is incurable and difficult to manage. Complications are common. They include:

• Coma
• Gallstones
• Paralysis
• Respiratory failure
• Liver disease and failure
• Skin scarring

Prevention of 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; this happens when light perforates the organs and leads to infection)

Long-Term Outlook of Porphyria

Long-term outlook varies widely, but treatments are being investigated every day. If you manage your symptoms and avoid triggers, you can carry out your everyday activities with few issues.

Getting a treatment plan in place early can help prevent permanent damage. Long-term damage can include:

• Breathing difficulties requiring continuous oxygen
• Walking problems
• Anxiety attacks
• Scarring

Early diagnosis can help you lead a relatively normal life. Management is also very important.

If you have an inherited condition, talk to a genetic counselor. They can help you understand the risk of passing it to your children.

Reference:

https://www.healthline.com/health/porphyria

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/porphyria