Q: How do you prevent an acute attack?

A. By maintaining a regular diet, avoiding alcohol and certain drugs, most of the attacks can be prevented. For patients who have attacks premenstrually, prophylactic LHRH analogues can be tried long term. Patients who have acute attacks, should avoid pregnancy till they are free of symptomatic attacks for at least 18 months as pregnancy may precipitation an acute attack.

To avoid the photosensitivity seen in VP and HCP, Beta-Carotene treatment may be useful.

Q: How do you test for porphyria in family member?

A. Since acute porphyrias are autosomal dominant conditions, there is 50 % chance that the child may be affected if one of the parent has the disease. However, the disease may remain latent for a prolonged time. Latent cases can be diagnosed by measuring porphyrins and their precursors in urine, faces and blood, or measuring the various enzymes of the heme biosynthetic pathway. Young children may not show signs of their porphyria till puberty and laboratory tests may not even pick it up till then. Hence, it is safer to have to children follow the same precautions to minimize the risk. These children should be tested every two years from the age of 12 till they are 20 years old. If the tests are still negative, it is unlikely that the child may suffer from porphyria. However, the child may still have the defective gene, hence it is wise that no member of a porphyric family should take such drugs until essential.

Q: What is the skin problem in porphyria?

A. Skin problems in porphyria are usually acquired conditions. Patients with VP, HC, CP and PCT have a very sensitive skin, which is easily damaged. Sunlight often causes the skin to become fragile particularly in those areas exposed to light like hands, faces, neck, legs and feet. Their skin develops blisters and sores. Long term, their skin become thin, dark, scarred and often hairy. EPP and CP present at much younger age and have severe symptoms.

Q: How do you prevent these skin problems?

A. The best way to treat the skin condition is to prevent it. Avoiding sunlight is the most beneficial therapy. Sun-exposed areas can be protected by wearing long sleeves, gloves and a hat. Patient should go out only in early morning or late afternoon. Sunscreens, which can help, are opaque zinc or titanium oxide, however, they are thick and greasy.

Q: What is the treatment?

A. There is no cure for porphyria. However, it can be made less severe. Patients with PCT should avoid alcohol. If skin conditions remain bad, venesection is indicated. This removes about 10cc\kg\body weight of patient's blood at regular intervals usually fortnightly for about eight weeks. Patients with EPP should be regularly tested for liver dysfunction.

Last created on 23-02-2001
Last updated on 30-04-2007