Acute Intermittent Porphyria (AIP)

Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms may include:

• Abdominal pain and cramping
• Nausea and vomiting
• Constipation
• Pain in limbs, head, neck, or chest
• Impaired movement
• Rapid heart rate
• Breathing problems
• Seizures
• Difficulty urinating
• Mental symptoms such as:
  • Behavioral changes
  • Hallucinations
  • Difficulty sleeping
  • Confusion

Porphyria Cutanea Tarda (PCT)

This is the most common porphyria. Most are not inherited. They are acquired at some point.

Symptoms are primarily in the skin and increase with sun exposure. Symptoms may include:

• Fragile skin—minor injury may damage the skin
• Blisters on the face, hands, arms, feet, and legs
• Skin that thickens and scars
• Skin color changes
• Red, pink, or brown urine particularly after sun exposure

Erythropoietic Protoporphyria (EPP)

Skin symptoms may occur before or during sun exposure. Symptoms include:

• Redness or swelling, but usually no blisters
• Itching or burning sensation
• Long-term skin and nail changes

Other symptoms may include:

• Abdominal pain
• Difficulty sleeping
• Irritability
• Nausea
• Headache
• Insensitivity to temperature
• Depressed mood

Congenital Erythropoietic Protoporphyria (CEP)

This form is rare.

Symptoms may include:

• Reddish urine, in infancy
• Sun sensitivity, beginning in early infancy
• Blisters that open and are prone to infection
• Skin color changes
• Skin thickening
• Nail changes, ridging, or absence of nail
• Reddish-brown teeth
• Excess tears
• Sensitivity to light
• Headache
• Diarrhea or vomiting

Acute Intermittent Porphyria

You may need to be hospitalized during an attack. Your doctor will work with you to determine what triggered the attack. Common triggers include:

• Drugs, such as:
  • Barbiturates
  • Sulfa drugs
  • Seizure drugs
  • Steroid hormones such as:
    • Estrogen
    • Progesterone
• Hormonal changes related to the menstrual cycle
• Weight-loss diets or fasting
• Infections
• Alcohol
• Stress
• Surgery
• Cigarette smoke

Treatment for acute intermittent porphyria may include:

• Stopping or substituting any medication suspected to be the cause
• Medication to reduce symptoms
• Glucose delivered by IV
• Monitoring and treatment for side effects like heart problems, breathing difficulties, and seizures

Porphyria Cutanea Tarda

Your doctor may need to identify the triggers. Common triggers include:

• Iron
• Alcohol
• Estrogens
• Hydrocarbons
• Certain pesticides or chemicals

Treatment of porphyria cutanea tarda may include:

• Avoiding:
  • Sun exposure
  • Alcohol consumption
  • Iron supplement and iron rich foods
• Blood removal weekly to monthly to reduce porphyrins in blood
• Low doses of antimalarial drugs may reduce symptoms in some
• Annual doctor visits for liver monitoring

Erythropoietic Protoporphyria

The primary treatment step is to avoid or limit exposure to sunlight. Other treatment steps may include:

• Medications to increase light tolerance such as beta-carotene
• Medication to help remove porphyrins from body
• Treatment for complications:
  • Blood transfusion or removal of spleen for anemia
  • Liver transplant

Erythropoietic protoporphyria may also be triggered by dieting or fasting. Your doctor will discuss a healthy diet plan.

Congenital Erythropoietic Protoporphyria