Symptoms: Do you have a porphyria?
The Acute Porphyrias:
According to Porphyria experts, approximately 80% of individuals who carry a gene mutation for acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, and remain asymptomatic, and others may have only one or a few acute attacks throughout life. In most of these cases levels of ALA, porphobilinogen, and porphyrins in urine, serum, and feces are normal. Additionally, most patients with ALA-dehydratase deficiency porphyria also remain asymptomatic for most of their lives. Severe abdominal pain, the most frequent symptom, is diffuse rather than localized and is often accompanied by nausea, vomiting, bloating, constipation, and sometimes diarrhea. Other symptoms include insomnia (often an early symptom), heart palpitations, seizures (sometimes due to salt imbalance in the body as a result of excessive vomiting and/or diarrhea), restlessness, hallucinations, and other acute psychiatric symptoms.
The common symptoms of the acute porphyrias include:
- Abdominal pain: severe, diffuse, usually lasting for hours or longer
- Pain in extremities, back, chest, neck, or head
- Loss or impairment of movement
- Respiratory paralysis
- Behavioral changes, including agitation, confusion, hallucinations, and depression.
- Convulsions, as a result of excessive vomiting and/or diarrhea
- Increased heart rate
The Cutaneous Porphyrias
The most common symptoms of the cutaneous porphyrias are photosensitivity and/or skin fragility. Photosensitivity presents within minutes of exposure to sun and some types of artificial light with severe burning pain especially on the back of the hands, the face, and the top of the feet. Attacks may last for 2–3 days, and are usually unresponsive to any pain medication except cold air and cold water. Except in EPP, this is often accompanied by painful blisters which can take weeks to heal, may bleed, and result in scarring and changes in skin color at the sites of the blisters. In CEP, this photosensitivity may lead to mutilation and loss of facial features and fingers. Patients with PCT, HEP, and CEP may also present with increased hair growth, typically on the temples. Additionally in CEP, brownish-colored teeth which fluoresce under ultraviolet light and mild or severe hemolytic anemia are common.
The common symptoms of the cutaneous porphyrias include:
- Sensitivity to sunlight
- Fragile skin
Depending on the type of cutaneous porphyria, the following symptoms may also be present:
- Changes in skin color
- Increased hair growth
- Teeth discoloration
- Bone fragility or bone loss, due to Vitamin D deficiency