CLINICAL AND NUTRITIONAL MANAGEMENT OF ACUTE PORPHYRIAS

Porphyrias, either genetic or acquired, are metabolic diseases, produced by specific enzymatic deficiencies in the haem pathway. Each porphyria is biochemically characterized by an abnormal pattern of accumulation and excretion of the precursors aminolevulinic Acid (ALA) and porphobilinogen (PBG) and/or porphyrins. Independently on their hereditary or acquired origin, these diseases have a polymorphic clinical expression which might go from intense skin photosensitivity to an abdominal acute crisis, associated with severe hepatopathy and/or neuropathy, leading to death in 10% of the patients suffering the acute forms. Acute porphyrias are hepatic and genetic, depending on the enzymatic failure, they are identified as Acute Intermittent Porphyria (AIP), the most frequent of them all in Argentina, Variegate Porphyria (VP) and Hepatic Coproporphyria (HCP). They are most frequent in woman. Most of the carriers of the genetic deficiency might be asymptomatic throughout their life, however, around a third of them can develop an acute crisis due to the exposure to some triggering agents, such as several porphyrinogenic drugs, toxic substances, alcohol, stress or inadequate diet. The administration of relatively high amounts of carbohydrates, is the fundamental base of the nutritional treatment, both during the attack and their asymptomatic periods. Carbohydrates act through the mechanism known as "glucose effect", inhibiting the haem pathway by preventing the induction of the regulatory enzyme ALA-synthetase. An epidemiological retrospective clinical study was carried out in patients, both under admission and ambulatory, in the Department of Medical Clinics in the Ramos Mejía General Hospital of Buenos Aires, Argentina, during a period of 9 years (1994 to 2002). The following parameters were evaluated: type of porphyria, sex, age, patterns of excretion, nutritional state, number of admissions. All porphyric patients received the specific therapy for thier crisis during admission and for maintenance during remission. From a total of 152 patients, 78% were AIP and 23% mixed porphyrias (VP and HCP). The average age was 24 (13-44) for AIP and 23 (20-34) for mixed porphyrias. Admissions were 25 for AIP and 5 for mixed porphyrias. Of all admissions, 40% were due to an acute attack. In conclusion, the right clinical and very important, nutritional management of the porphyric patients assures both a more rapid recovery from the crisis and a much more extended remission period, often for the rest of their lives, meaning that they do not suffer another attack ever.