Haematin therapy in new cases of acute intermittent porphyria in the Argentine population

PARERA VE; MELITO, V; FLAGEL MS; CERBINO G; GEREZ, E; BATLLE A; ROSSETTI MV

Cardiff

Congreso; International Porphyrins and Porphyrias Meeting; 2011

British Journal of Dermatology

Acute intermittent porphyria (AIP), the most common of acute porphyrias, inherited as an autosomal dominant trait, is caused by a defect in the gene codifying for porphobilinogen deaminase.  Clinical expression occurs after puberty; environmental and other factors such as fasting, drugs, alcohol steroid hormones, may precipitate acute attacks, begining with abdominal pain followed by the development of peripheral neuropathy and central nervous system manifestations. During 2010, four young women developed their first attack of AIP. Three of them were the first case in their families and another was cousin of an AIP patient diagnosed in 1994. All patients were treated with Normosang (3-4mg/kg during four days). This therapy was successfully applied during the first fifteen days of the acute attack in three cases and they  were in remission between one and two weeks after the therapy. In patient 1 (18 years old) the attack was developed after a knee infiltration. We detected Q34P mutation in the patient, her father and one brother (17 years old), both L-AIP, mutation was not found in another brother (8 years old) and one sister (6 years old). Patient 2 (24 years old) triggered her first attack after fasting. She inherited G111R mutation from her mother (L-AIP), one sister (25 years old) is L-AIP and another two sisters (22 and 18 years old) have not inherited the mutation.  After the first attack in September, she developed light attacks every month during pre-menstruation.  In patient 3, 23 years old, porphyria was triggered by urinary infection and she also carry the most prevalent mutation in our country, G111R. In the fourth case, AIP was diagnosed one month after admission, and in spite of having received hematin one month later, she died at the age of 22. She was a cocaine and alcohol abuser since she was 17 years old and porphyria was triggered two months after drug rehabilitation. She probably inherited the porphyria from her father, who died when he was 28 years old presumably of acute porphyria. The patient carried G111R mutation, one of her sisters was diagnosed as symptomatic AIP (S-AIP) and the other as latent AIP (L-AIP). We can conclude that the use of Normosang for treatment of our AIP patients is very satisfactory when therapy is applied within two weeks after the porphyric attack.