Intermittent acute Porphyrie

The intermittent porphyrie acute is most frequent of the Porphyrie S. It is a severe form of porphyrie hepatic.

It affects mainly the internal organs and the central Nervous system and autonomous. Sometimes the demonstrations of this disease are intermittent and threaten the life of the patient.

The first demonstrations appear with puberty and more often reach the women than the men. Certain people have the change without expressing the disease and are thus carrying a latent intermittent acute porphyrie.

The return in a normal state can take a few days in a few months without treatment.

The abdominal pains are the most frequent demonstration of the disease and is often the first sign of an intermittent acute porphyrie. The other digestive signs of accompaniment are the nausea S, Vomissement S, Constipation or Diarrhée, paralytic Iléus, urinary Rétention or incontinence of urine.
The attack of the nervous system appears by a muscular weakness of the legs and arms. The cranial nerves are also reached. A permanent quadriplegia can remain after several attaques.
The psychiatric signs are fréquents including/understanding Hysteria, depression, Phobia, Psychosis, Is delirious or Coma.

The people reached have an increased risk of Cancer of the liver or Impaired renal function. The intermittent acute porphyrie is often started by the catch of alcohol, of Barbiturique S, Stéroïde S. the slimming modes, the Stress, the voyages as well as the hormonal variations of the woman are also found like starting factor.

Etiology

Change of the Gene HMBS situè on the Chromosome 11 coding the porphobilinogen deaminase .

Incidence & prevalence

This disease meets especially in Sweden with a Prévalence of 1 on 10 000 and in England. The European prevalence is from 1 to 2 on 100 000 and it can go up to one on 500 in the patients reached of psychiatric disorders.

Description

Diagnosis

Treatment & assumption of responsibility

Symptomatic treatment: Analgesics, Chlorpromazine Nerve sedatives: LARGACTIL)

Treatment etiologic: Heme-arginate

Family tracking

The genetic Council

Sources

Shigeru Sifted, Acute Intermittent Porphyria In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2005.

Associations

Web site

Center French porphyries

The Center European of the porphyries with the list of the authorized and prohibited drugs.

Random links: