Aim Porphyria is the accumulation of substrate in nervous system, gastrointestinal system, kidney, liver, and skin. It is a uncommon illness that is seen when there is absence or insufficient action of 8 enzymes in making heme molecule. The purpose of this research is to assess the types and symptoms incidence of porphyria patients in Turkey.

Method There are 139 patients who are followed by our hospital’s internal medicine department, and outpatients. Some patients are not diagnosed yet but they have family history and symptoms which cause to suspect about Porphyria. 103 of 139 patient’s type of Porphyria is known and genetic test is done to 61 of them. 53 patients are men and 86 are women. 139 patients average age is 35.4 and average body mass index is 22.6. Mutation seen in 81.9% patients who took genetic test. Obtained informations taken from our Hospital’s Pusula system and examined in SPSS.

Results There are 103 patients whose type of porphyria are known. It is seen that 64% of patients are AIP, 2.9% of patients are PCT, 4.8% of patients are CEP, 15.5% patients are HCP, 9.7% patients are VP. In our research, the most typical type of porphyria is determined as AIP with the percentage of 64. When we searched for the patients informations on the system Pusula, we found that 75% of patients have symptoms. Observed as most common symptoms are; 51.1% abdominal pain, 22.3% vomiting, 18% lethargy, 12.9% skin lesions, 12.2% constipation, 12.2% arthralgia, 12.2% lumbalgia, 10.8% emesis, 10.8% paresthesia and 9.4% diarrhea.

Conclusion Our research indicates that acute intermittent porphyria (AIP) is the most common type. Confirmed that abdominal pain is the most typical accompanying symptom of a prophyria patient. The most commonly seen symptoms of patients are not specific. Therefore the conclusion is, there should be more research done for the rare disease porphyria which can’t be noticed easily.

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Abstract 04193 Figure 1