What Is Porphyria?

Porphyria is a group of rare disorders that affect the skin (cutaneous porphyria) and nervous system (acute porphyria). It involves a buildup of natural chemicals called porphyrins in the body. Porphyrins are necessary for the production of heme, which is a part of hemoglobin. Hemoglobin carries oxygen to organs and tissues.

In order to convert porphyrins into heme, eight enzymes are needed. Without these enzymes, porphyrins build up in the body. This results in major issues, especially regarding the nervous system and skin.

Types

Porphyria has two main types: acute and cutaneous. Acute porphyria has a rapid onset and presents mainly in the nervous system. Cutaneous porphyria has a slower start and impacts the skin. Other types of porphyria can impinge both the nervous system and skin.

Acute porphyria symptoms

Acute porphyria mainly influences the nervous system, although a few types also affect the skin. The symptoms typically appear quickly and can last from hours to weeks. Symptoms of acute porphyria may improve then return later, and typically include the following:

• Breathing problems
• Digestive issues (nausea, constipation or vomiting)
• Red or brown urine
• Severe pain in the chest, stomach, back or legs
• Heart palpitations
• Anxiety
• Hallucinations
• Confusion
• High blood pressure
• Muscle pain, weakness, tingling, paralysis or numbness
• Seizures

Cutaneous porphyria symptoms

Cutaneous porphyria typically affects the skin and does not normally cause any changes in the nervous system. The face, forearms, neck, ears and hands are most commonly impacted. When exposed to the sun, symptoms may include the following:

• Blisters
• Painful, burning skin
• Fragile skin
• Changes in skin color
• Increased hair growth on skin
• Sudden redness or swelling
• Itchiness
• Red or brown urine

Causes

Porphyria is often the result of a genetic change that is passed down from one or both parents. However, this genetic change does not always result in symptoms.

Porphyria cutanea tarda is a form of porphyria that occurs due to triggers in the environment. Triggers may include the following:

• Heavy alcohol use
• Smoking
• Too much iron (usually due to hemochromatosis)
• Viral infections, including HIV or hepatitis C
• Hormone changes during menstruation

Risk factors

The biggest risk factor for porphyria is one or both parents carrying the genetic change responsible for the condition. Certain environmental risk factors also exist, including, but not limited to, the following:

• Recreational or illicit drug use
• Alcohol use
• Smoking
• Certain medications, such as sedatives, barbiturates, or birth control
• Dieting or fasting
• Emotional stress
• Exposure to sunlight