Porphyria: Symptoms

What are the symptoms of porphyria?

Although porphyria can often remain latent for years, your symptoms can occur sporadically or be triggered by stress, hormones, or substances such as alcohol, tobacco, and certain medications. Symptoms of porphyria include both cutaneous (skin-related) and generalized symptoms. Skin symptoms include blisters, changes in pigmentation, and breakdown of the skin when exposed to sunlight. This can lead to infection and scarring.

Acute porphyria symptoms are neurological (originating in the nervous system) and can include both abdominal symptoms, such as pain, nausea, vomiting, diarrhea and constipation, and mental symptoms, such as seizures, anxiety and hallucinations. Such neurological symptoms of porphyria can be severe, and medical treatment should be obtained for seizures, hallucinations, muscle paralysis, difficulty breathing, or severe anxiety.

Acute symptoms of porphyria

Acute symptoms of porphyria originate in the nervous system and can occur sporadically. Symptoms can be triggered by a variety of mental, emotional and environmental stresses, as well as by drugs, alcohol or smoking. Acute symptoms of porphyria include:

• Abdominal pain
• Anxiety
• Behavior or personality changes
• Constipation
• Diarrhea
• Difficulty breathing or rapid breathing
• Fever
• Liver problems
• Nausea with or without vomiting
• Numbness or tingling

Skin symptoms of porphyria

Skin symptoms of cutaneous porphyria occur most commonly with exposure to sunlight and can lead to infection. Skin symptoms include:

• Blistering of the skin
• Changes in skin pigmentation
• Fragile, easily damaged skin

Serious symptoms that might indicate a life-threatening condition

In some cases, acute porphyria can be life threatening. Seek immediate medical care (call 911) if you, or someone you are with, have any of these life-threatening symptoms including:

• Changes in mood, personality or behavior
• Difficulty breathing or rapid breathing
• Hallucinations
• Muscle paralysis or weakness
• Seizures