Porphyrias are a group of rare disorders passed down through families, in which an important part of
Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Causes, incidence, and risk factors
Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with porphyria have a deficiency of certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.
There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).
Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.
Porphyrias involve three major symptoms:
Abdominal painor cramping (only in some forms of the disease) Light sensitivitycausing rashes, blistering, and scarring of the skin (photodermatitis)
- Problems with the nervous system and muscles (
seizures, mental disturbances, nerve damage)
Attacks can occur suddenly, usually with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat,
Other symptoms may include:
- Muscle pain
- Muscle weakness or paralysis
- Numbness or tingling
- Pain in the arms or legs
- Pain in the back
- Personality changes
Attacks can sometimes be life threatening, producing:
Low blood pressure
Signs and tests
Your doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks or others) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.
Some of the other tests that may be done include:
Blood gases Comprehensive metabolic panel
- Porphyrin levels and levels of other chemicals linked to this condition (often checked in the urine)
Ultrasound of the abdomen Urinalysis
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
- Hematin given through a vein (
intravenously) Pain medication
- Propranolol to control the heartbeat
- Sedatives to help you feel sleepy and less anxious
Other treatments may include:
Fluids and glucose to boost
carbohydratelevels, which helps limit the production of porphyrins
Removal of blood (phlebotomy)
Depending on the type of porphyria you have, your doctor may tell you to:
- Avoid all alcohol
- Avoid drugs that may trigger an attack
- Avoid injuring the skin
- Avoid sunlight as much as possible and use sunscreen when outside
- Eat a high-carbohydrate diet
Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help prolong the time between attacks.
Coma Gallstones Paralysis
- Respiratory failure (due to weakness of chest muscles)
- Scarring of the skin
Calling your health care provider
Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.
Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.