[Treatment of acute porphyrias. The importance of follow-up of patients and carriers].
Acute porphyrias are caused by the inherited decreased activity of the enzymes of the heme biosynthesis pathway. Depending on the affected enzyme there are 4 types of them: acute intermittent porphyria, porphyria variegata, coproporphyria and delta-aminolevulinic acid dehydratase deficient porphyria, listed in order of their frequency. Basically the clinical picture is the same in the four types of acute porphyria. The most frequent complaints and symptoms are: cramping abdominal pain, nausea, vomiting, muscle weakness of the limbs then, in the advanced phase, there is a red-colored urine, hyponatremia, subileus, acute psychosis and Landry-type paralysis. Without proper treatment death is caused by respiratory paralysis or serious arrhythmia. In case of suspicion of acute porphyria it is mandatory to identify the type of the acute porphyria and the actual status of the patient. The later indicates what kind of treatment should be used. In the acute phase the early therapy with heme arginate is the treatment of choice. Since the clinical symptoms are precipitated by endogenous or exogenous inducing factors--most often by drugs-, the drugs negatively affecting the heme biosynthesis should be omitted at once even in the suspicion of acute porphyria. The role of the inducing factors in the manifestation of the clinical symptoms makes possible the prevention. It is possible to avoid the inducing factors and this way to prevent the acute attack if the acute porphyrias are recognized in time and the patients and the carriers are under regular control. The patients receive special identification card and the up-to-date list of safe drugs. They can use only these drugs in any kind of illness. Other drugs should be considered as porphyrinogenic since it is impossible to predict based on their chemical structure if they negatively affect the heme biosynthesis.
Tasnádi
Gyöngyi
G
MAV Kórház és Központi Rendelóintézet Budapest.
Bor
Márta
M
Pusztai
Agnes
A
D000208:Acute Disease; D005500:Follow-Up Studies; D006579:Heterozygote; D006801:Humans; D000623:Porphobilinogen Synthase / Q000378:metabolism; D017118:Porphyria, Acute Intermittent / Q000188:drug therapy; D011164:Porphyrias / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics / Q000517:prevention & control; D017094:Porphyrias, Hepatic / Q000188:drug therapy; D015985:Precipitating Factors; D011379:Prognosis; D012307:Risk Factors
D000623:Porphobilinogen Synthase