Porphyria
About Porphyria
A group of diseases caused by an abnormal accumulation of porphyrins in the body. The disorder affects the nervous system and skin and is inherited. The nervous system type is called acute porphyria and the skin type is cutaneous porphyria. There is no cure for the disease but the symptoms can be controlled. Porphyrins come from the metabolism of heme. Heme is present in many places in the body but most of it comes from the hemoglobin found in red blood cells. Symptoms can be triggered by exposure to certain medications, excessive dieting, sun exposure, smoking, infections, drinking alcohol or hormones. If left untreated the disease can be very serious causing breathing problems, kidney failure, skin damage and liver problems.Symptoms
Acute porphyria symptoms include nausea, vomiting, diarrhea, dehydration, muscle pain, abdominal pain, anxiety, problems sleeping, excessive sweating, hallucinations, seizures, confusion, paranoia, red urine, and personality changes. Cutaneous porphyria causes symptoms when exposed to sunlight and these include blisters, itching, skin swelling, skin redness and red urine.Tests & Diagnostics
A history and physical exam will be done. The urine may be tested for porphobilinogen (PBG), urine porphyrins, and delta-Aminolevulinic Acid (ALA). Blood and stool may also be tested for porphyrins to help establish the diagnosis.Prescription medications
Conventional treatment summary
There is no cure for porphyria. The treatment of acute porphyria is aimed at removing anything triggering the symptoms such as stopping certain medications, stopping alcohol use and treating infections. The other goal of therapy is to reduce the symptoms and these treatments include: pain medications, intravenous fluids, intravenous sugars, and hematin. Severe cases causing liver failure (cirrhosis) may require a liver transplant. Cutaneous porphyria treatment includes: avoiding sunlight, drawing blood to reduce the amount of iron in the body, malaria medications, and beta-carotene.Medical specialties
Internal Medicine · Pediatrics · Family Practice · Hematology and Oncology · Pediatric Hematology and Oncology
This page is educational content, not medical advice. Always consult a qualified clinician for diagnosis and treatment of Porphyria.