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Porphyrias are a group of rare metabolic disorders that can cause a wide range of symptoms, ranging from severe blistering when exposed to sunlight, to pain and neurological issues. The underlying cause of porphyria is abnormal enzyme activity that leads to an accumulation of substances called porphyrins. Porphyrins are chemicals that the body uses when synthesizing heme, which is a component of hemoglobin, liver enzymes, and numerous metabolic processes.
Because porphyria is rare and causes a wide range of symptoms, it can be mistaken for other conditions, it can be difficult to diagnose, and it is sometimes misdiagnosed.
The following is a closer look at porphyria symptoms.
Skin symptoms
There are at least eight different types of porphyria, which can be placed into two broad categories—acute porphyrias and cutaneous porphyrias. Acute porphyrias typically cause sudden attacks of pain and neurological symptoms that can last days or weeks. Cutaneous porphyrias predominately cause skin symptoms. Several types of acute porphyrias can also cause skin symptoms.
People who have a type of porphyria that affects the skin often have an extreme sensitivity to sunlight. This is caused by an accumulation of porphyrins in the skin. When the skin is exposed to sunlight, these accumulated porphyrins become unstable. This can cause in blisters, swelling, redness, itching, and the skin becoming fragile and easily damaged.
Abdominal pain
Abdominal pain is a common symptom of porphyria—it is the most commonly reported symptom of acute intermittent porphyria (AIP), the most common type of acute porphyria. Other types of porphyria can also cause abdominal pain. Gastrointestinal symptoms can also occur, including nausea, vomiting, constipation, diarrhea, and abdominal swelling. Patients may experience difficulty emptying the bladder, and urine may be red or brown in color.
Neurological symptoms
In addition to abdominal pain, patients may experience pain in other parts of the body, such as the arms, legs, back, and neck. They may also experience neurological symptoms such as:
- Tingling, numbness, muscle weakness, and impaired motor function as a result of these symptoms.
- Rapid heartbeat and high blood pressure.
- Respiratory paralysis.
- Mental changes, such as confusion, anxiety, paranoia, hallucinations.
- Seizures.
Symptoms vary depending on the type of porphyria, but symptoms also overlap between different types.
Work with a healthcare provider
Any time you have unexplained symptoms—especially serious symptoms like the ones described above—you must work with a healthcare provider to figure out the cause. Porphyria can be treated and managed, but as with any health condition, getting the care you need depends on getting an accurate diagnosis.
If you are looking for a healthcare provider that specializes in porphyria, or a lab that handles diagnostic testing for porphyria, visit the website of the American Porphyria Foundation. A link is available on our porphyria resource page.
