Understanding Porphyria: Causes, Symptoms, Diagnosis, and Treatment Options

Porphyria is a group of disorders that can affect your liver and nervous system, causing neurologic symptoms (Acute Intermittent Porphyria) or your skin, causing photosensitivity (Porphyria Cutanea Tarda). While there is no cure for porphyria, treatments are available to help manage your symptoms. In this article, we'll explore the causes, symptoms, diagnosis, and treatment options for porphyria to help you better understand this condition.

What Causes Porphyria?

Porphyria is caused by a problem with how your body makes a substance called heme. Heme is a crucial component of hemoglobin, the protein in your blood that carries oxygen from your lungs to the rest of your body. When your body doesn't have enough of certain enzymes involved in the heme-making process, porphyrins or their precursors (chemicals that help make heme) can build up, leading to porphyria.

Most types of porphyria are inherited, meaning one or both of your parents pass a mutated gene to you that leads to the disease. However, some types of porphyria, such as porphyria cutanea tarda, can be triggered by certain conditions or actions, including:

• Drinking alcohol

• Estrogen use by women

• Hepatitis C

• HIV

• Smoking

• Fasting or crash dieting

Symptoms of Porphyria

The symptoms of porphyria vary depending on the type you have. There are two main categories of porphyria: acute porphyria, which affects the nervous system, and cutaneous porphyria, which affects the skin.

Symptoms of Acute Porphyria

Acute porphyria symptoms can develop quickly and last for days or weeks. These symptoms may include:

• Severe abdominal pain

• Chest pain or trouble breathing

• Faster heart rate and higher blood pressure

• Limb and back pain

• Muscle weakness

• Tingling and loss of sensation

• Cramping

• Vomiting and constipation

• Red or purple urine on exposure to light and air

• Can be life threatening

Symptoms of Cutaneous Porphyria

Cutaneous porphyria symptoms occur when your skin is exposed to sunlight. The most commonly affected areas include the face, hands, forearms, ears, and neck. Symptoms may include:

• Blisters

• Itching

• Swelling

• Pain

• Increased hair growth

• Skin darkening and thickening

• Dark reddish-brown urine even when fresh

• Photosensitivity

Diagnosing Porphyria

Diagnosing porphyria can be challenging because its symptoms are similar to those of other diseases. If your doctor suspects you have porphyria, they may order blood, urine, and stool tests. These tests are most effective when performed during or around the time of a symptomatic outbreak. Your doctor may also recommend genetic testing, as porphyria often runs in families.

Treating Porphyria

Treatment for porphyria depends on the type you have and the severity of your symptoms. For acute porphyria, hospitalization may be necessary during an outbreak. Treatment may include pain management, anti-nausea medication, and the administration of glucose or hemin injections.

For cutaneous porphyria, treatment options may include:

• Regular blood removal (phlebotomy) to lower iron levels in the liver

• Low doses of antimalarial drugs, such as chloroquine or hydroxychloroquine

• Avoiding triggers that cause outbreaks

• Treating underlying conditions, such as HIV or hepatitis C

Managing porphyria often requires a team of healthcare professionals, including hematologists, dermatologists, hepatologists, and genetic counselors. The American Porphyria Foundation (APF) can help you find a specialist in your area.

Living with Porphyria

Porphyria is a chronic condition, meaning symptoms may come and go throughout your life. By avoiding triggers and working closely with your healthcare team, you can manage your symptoms and prevent complications. Remember, everyone's experience with porphyria is different, and treatments can help you feel better and maintain your quality of life.

If you have porphyria, it's essential to reach out to family and friends for emotional support and practical help when needed. Joining a support group, such as those offered by the American Porphyria Foundation, can provide valuable information and connect you with others who understand what you're going through.

For more information on porphyria, visit the National Institutes of Health Genetic and Rare Diseases Information Center.