What is Porphyria?
Porphyria is a rare condition that affects only about 20,000 Americans every year. When a person has Porphyria, a build-up of chemicals called porphyrins in the bloodstream, this can lead to acute porphyria, where porphyrins build up in the nervous system, or cutaneous porphyria, when porphyrins build up in the skin.
Symptoms of Porphyria
The exact symptoms that a person will experience will be dependent on the type of porphyria that they have. People with cutaneous porphyria will experience a number of the following symptoms, including sensitivity to light that causes burning sensations, swelling, blisters, and redness on the skin. They might also experience fragile skin, extra hair growth in some areas, and red or brown urine. Additionally, when the skin heals, it’s likely to have scars left behind and be extra fragile.
People who have acute porphyria have a separate set of symptoms from those experienced by people with cutaneous porphyria because the porphyria affects the nervous system rather than the skin. One of the most common symptoms of people with acute porphyria is severe abdominal pain, which might also be accompanied by nausea, vomiting, constipation, and diarrhea. Some people might also experience chest, leg, or back pain. Weakness or paralysis, numbness, tingling, and muscle pain are other signs of porphyria. Some people might even experience confusion, anxiety, and paranoia. Finally, some of the other common symptoms of porphyria include seizures, high blood pressure, breathing problems, rapid or irregular heartbeats, and brown or red urine accompanied with difficulties urinating.
Additionally, when a person with acute porphyria is in the middle of an attack, it can actually be life threatening. This is the time when someone with the disease is likely to experience high blood pressure, breathing problems, dehydration, and seizures. These experiences can also lead to kidney failure and liver damage.
Treatment for Porphyria
When a person has acute porphyria, their parts of their nervous system can begin to shut down or simply become dehydrated. That’s why an IV can sometimes be used to deliver much needed fluid and minerals to the bodies of people in the midst of an acute attack.
A blood transfusion might also be necessary for people with some types of porphyria because a transfusion can supply the necessary heme that people with porphyria are missing from their own blood. These transfusions are usually given during an acute episode that requires hospitalization.
Immunosuppressive drugs like hydroxychloroquine can also be used to reduce the immune response. Hydroxychloroquine is often given to patients with lupus and arthritis to reduce inflammation, but the same drug can also reduce inflammation in people with porphyria.
Carotene supplements are often used on people with cutaneous porphyria because carotene can help protect the skin against UV light waves found in sunlight. Carotene converts to vitamin A, which the body uses to strengthen eyes and skin. In fact, carotene can be effective in treating a wide variety of reasons for human photosensitivity.
Finally, people with cutaneous porphyria sometimes benefit from having blood drawn from their bodies. People with porphyria can sometimes accumulate excess iron in their bloodstreams, which can cause problems with the liver. When the blood with the excess iron is removed from their systems, their livers are more able to process their blood, and many of their problems with their skin will lessen.
