Porphyria is a rare inherited disorder characterized by excessive formation and excretion of porphyrins (chemicals in all living things). The skin, liver, digestive system, and central nervous system--including the brain, the coverings of the brain (meninges), and the spinal cord -- and peripheral nerves are involved. Porphyria can affect both sexes but is more common and severe in females.
Appropriate health care includes:
Physician's monitoring of general condition and medications.
Psychotherapy or counseling.
Hospitalization during attacks for supportive care.
SIGNS & SYMPTOMSIncreased sensitivity to light.
Mental changes, including depression and mania.
Skin changes, including itching and blistering.
Dark urine that darkens more if left standing in a specimen jar.
Abdominal pain and vomiting.
Muscle cramps and weakness.
Numbness and tingling in the feet and hands.
An inherited disturbance in the metabolism of porphyrins.
RISK FACTORSFamily history of porphyria.
Use of drugs, such as birth-control pills, alcohol, barbiturates. These don't cause the disease, but they may trigger attacks.
Exposure to sunlight. This may trigger attacks.
PREVENTING COMPLICATIONS OR RECURRENCECannot be prevented at present. To reduce the frequency and severity of attacks, urge your child to do the following:
Avoid all drugs, including non-prescription medicines, until discussing it with your doctor.
Avoid taking birth-control pills.
Avoid bright sunlight.
If you are a female and your disease is severe, pregnancy may not be advisable. Any person with a family history of porphyria should seek genetic counseling before starting a family.
Your own observation of symptoms.
Medical history and physical exam by a doctor.
Laboratory studies to measure porphyrins in the urine, blood, and stool.
A fatal porphyria crisis may occur during pregnancy. Special medical care is necessary in prenatal and postnatal stages.
Misdiagnosis as a psychological or emotional problem may delay recognition and appropriate treatment.
PROBABLE OUTCOMEThis condition is currently considered incurable, but many patients live several years with the disorder. Symptoms can be relieved or controlled.
Scientific research into causes and treatment continues, so there is hope for increasingly effective treatment and cure.
HOME CAREYour child should avoid bright sunlight. If your child must be in bright sun, using a hat and protective clothing is necessary.
MEDICATIONMedicine usually is not necessary for this disorder, and some drugs may trigger attacks. Your child should not take any medicine without asking the doctor. Your doctor may prescribe tranquilizers to decrease anxiety.
See Medications section for information regarding medicines your doctor may prescribe.
DIET & FLUIDS
No special diet.
OK TO GO TO SCHOOL?Between active episodes of the disease.
CALL YOUR DOCTOR IF
Your child has symptoms of porphyria.
Dark urine or other symptoms of an attack recur.