Porphyria Symptoms

Porphyria can cause skin or nervous system problems. Urine from some may be reddish in color. This is due to the presence of excess porphyrins. The urine may darken after standing in the light. Specific symptoms depend on the type.

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 of future attacks resemble the initial episode and may include:

• Abdominal pain and cramping
• Nausea and vomiting
• Constipation
• Painful urination or urinary retention
• Pain in limbs, head, neck, or chest
• Muscle weakness
• Loss of sensation
• Tremors
• Sweating
• Rapid heart rate
• High Blood Pressure
• Breathing problems
• Arrhythmias
• Seizure Disorder
• Mental symptoms such as:
  • Hallucinations
  • Restlessness
  • Depression
  • Anxiety
  • Insomnia
  • Confusion
  • Paranoia

Porphyria Cutanea Tarda (PCT)

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

Symptoms may include:

• Sun sensitivity
• Sun-exposed skin is fragile
• Minor injury may damage the skin
• Blisters on the face, hands, arms, feet, and legs
• Skin heals slowly
• Skin susceptible to infection
• Skin thickens and scars
• Skin color changes
• Excess hair growth
• Reddish urine in infancy or childhood

Erythropoietic Protoporphyria (EPP)

Symptoms may include:

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

Congenital Erythropoietic Protoporphyria (CEP)

This form is extremely rare.

Symptoms may include:

• Reddish urine, in infancy
• Sun sensitivity, beginning in early infancy
• Sun-exposed skin is fragile
• Blisters on sun-exposed skin
• Blisters open and are prone to infection
• Skin color may change
• Skin thickens
• Excess hair growth
• Scarring
• Reddish-brown teeth
• Enlarged spleen
• Hemolytic anemia