Hepatic porphyria - illustrattve example of diagnostic error

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Porphyries represents hereditary diseases, in which there is enzyme deficit, having as a consequence the disturbance in hem synthesis, protopophyrin with building Fe. Hem is synthesised in liver and bone marrow and beginning of its synthesis controls DALA enzyme, which is very unstable and often suprimized or stimulating by many endogenous and exogenous factors. Porphyries can be primary (erythropoetic and hepatic) and secondary (with diseases of liver and bone marrow). Hepatic porphyries account for half of all porphyries and in more than 2\3 of cases first time appears during pregnancy. Maternal mortality accounts for 20% hepatic porphyry is inherited autosomal dominant but the most important is the enzyme deficit in uroporphobilinogen synthetasa, which leads to increase production of porphyrin precursors (DALA and PBG) its increase excretion by urine. The Clinical picture includes abdominal symptoms, neuropsyhic symptoms, and disturbance of autonomous nerve system. in the diagnosis very important is the personal and family history, screening tests and confirmation of the diagnosis is made by quantitative determine of DALA, PBG in urine, stools and erythrocytes. in therapy primary we must avoid drugs which induct DAL or provoke degradation of hepatic hem. in therapy of acute attack we administrate hemarginin, large quantities of glucose and symptomatic therapy. Review of case: Patient I. S. born in 1964, from Pristine. Diagnosis of acute hepatic porphyry is made after a numerous of diagnostic - therapeutic neglects which start after the first delivery, when she was hospitalised because of epic attacks first in the Neuropsychiatric Clinic in Pristine. Because of worsening symptoms and intensive abdominal pain and a suspicion for acute pancreatitis she was transferred in our clinical centre. After complete diagnostic procedures and confirmation of diagnosis, continue with the administration of adequate therapy which lead to significant subjective condition and normal findings and the patient was released home with a list of contraindicated drugs. Because of the previous events, risk and fear of the patient for relapse of the disease her next delivery was controlled in our Clinic. During the pregnancy, delivery and puerperium precipitated medicines were avoided.

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