Alternate Names: Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Causes and Risks: The porphyrias may be inherited as either autosomal dominant or autosomal recessive traits depending on which type of porphyria is involved. Some types of porphyria have their onset in early childhood, some at puberty, and others during adulthood.
A classical attack of acute porphyria generally begins with colicky abdominal pain (severe) followed by vomiting and constipation. Personality changes may develop during an acute attack as well as peripheral paresthesia (numbness and tingling), weakness, paralysis, sensory changes and muscle pain. Acute attacks can be lifethreatening, producing severe electrolyte imbalances, low blood pressure and shock.
Urine may become red following an attack. In congenital erythropoietic porphyria, the urine is constantly red.
Exposure to sunlight can cause reddening, pain, sensations of heat, blistering and edema in the skin. These lesions heal slowly, often with scarring or pigment changes and can be disfiguring.
Prevention: Genetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.
Symptoms:
Signs and Tests:
Tests:- PROTO blood test (measures porphyrins, blood)
- enzyme assay for:
- uroporphyrinogen decarboxylase
- protoporphyrinogen oxidase
- porphobilinogen PBG deaminase
- coproporphyrinogen oxidase
- ALA dehydratase
- uroporphyrinogen III cosynthase
- ferrochelatase
- Watson-Schwartz test on urine
- Hoesch test (measures abnormally high amounts of PBG)
Treatment: During an acute attack, these treatments can be expected.
Long-term management:- avoid all alcohol
- avoid drugs which may precipitate an attack
- high carbohydrate diet
- avoid sunlight
- sunscreen (if not contraindicated)
- avoid skin trauma
- beta-carotene
- consider splenectomy
Prognosis: The porphyrias are life-long intermittent illnesses, but with good long-term management, the affected person can expect long problem-free periods.
Complications:
Call your health care provider if you have any of the above symptoms suggestive of a porphyria. If you have already been diagnosed with a porphyria, call your health care provider at the first signs of an acute attack.
