Porphyrias are a group of genetic disorders that are caused by disruptions in the steps necessary for making heme, a molecule essential for transporting oxygen throughout the body. When impaired, this process causes intermediate molecules that make up heme, known as porphyrins, and their precursors to build up to toxic levels, while lowering the amount of oxygen carried in blood.
While each type of porphyria has its own underlying cause, their symptoms often overlap. There are two main groups of symptoms, each associated with the two main groups of porphyrias: cutaneous porphyrias that largely affect the skin, and acute porphyrias that mainly affect the nervous system.
Symptoms of acute porphyria tend to emerge suddenly and can be severe. Attacks can last from days to weeks, and then slowly subside.
Symptoms of acute porphyrias may include pain, gastrointestinal issues, urinary problems, and changes in mental status, among others. Some acute porphyrias, such as variegate porphyria (VP) and hereditary coproporphyria (HCP), also may affect the skin.
Severe abdominal pain is the most common symptom of acute porphyrias. Pain in other parts of the body, such as the chest, legs, or back, also may occur. Patients with acute porphyrias may experience muscle pain, sometimes accompanied by tingling, numbness, weakness, or paralysis.
Gastrointestinal and urinary issues
Gastrointestinal symptoms associated with acute porphyrias generally include constipation, diarrhea, nausea, and vomiting. Urinary problems may include urine color being reddish or brown, and an inability to completely empty the bladder, a condition known as urinary retention.
Mental health problems
Mental status changes associated with this group of porphyrias typically consist of, but are not limited to, anxiety, confusion, hallucinations, disorientation, and paranoia.
Breathing problems, seizures, and high blood pressure may occur in people with acute porphyrias. Palpitations — noticeably irregular heartbeats that often feel like the heart is racing, pounding, fluttering, or skipping beats — also are a common occurrence in these patients.
Symptoms involving the skin characterize — and give name to — cutaneous porphyrias. These symptoms arise from the excessive amounts of porphyrins that are transported to the skin. After reaching the skin, porphyrins absorb light and enter in a high-energy “excited” state, in which they are able to damage nearby tissue.
Sensitivity to sunlight, and less commonly to artificial light, may cause patients with cutaneous porphyrias to experience a painful burning sensation. Sudden and painful redness, swelling, itching, and skin changes (color and fragility) are common in these patients. Cutaneous porphyrias may cause blisters to form on exposed skin areas, most often in the hands, arms, and face. Some patients also may have excessive hair growth in affected areas.
Between both groups of porphyrias, abnormal urine color is one of the most common symptoms, occurring in up to 99% of patients. Abdominal pain, blistering, changes in skin color, and fatigue also are among the more common symptoms, found in 30–79% of people with porphyria.
Rarer symptoms include muscle weakness, the feeling of pins and needles, seizures, fever, and hallucinations. Cerebral palsy has been recorded in some acute cases, although it is relatively rare.
Last updated: April 6, 2021
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