Description A group of diseases...
Description
A group of diseases caused by an abnormal accumulation of porphyrins in the body. Porphyrins are used to make hemoglobin, the molecule in the red blood cell that carries oxygen throughout the body. Porphyria 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. 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 a person is exposed to sunlight: blisters, itching, skin swelling, skin redness and red urine.
Tests
Common tests used for diagnosis and treatment
Workup:
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.
Other Specific Tests: Porphobilinogen (PBG), urine porphyrins, delta-Aminolevulinic Acid (ALA)
Specialists:
Internal Medicine, Pediatrics, Family Practice, Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology
Workup:
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.
Other Specific Tests: Porphobilinogen (PBG), urine porphyrins, delta-Aminolevulinic Acid (ALA)
Specialists:
Internal Medicine, Pediatrics, Family Practice, Blood and Cancer Care (hematology and oncology), Pediatric Hematology and Oncology
Treatment
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.