An Overview Project of 55 Diagnosed Porphyria Patients

Background:
Porphyria is a metabolic disorder that occurs as the result of accumulation of the substrates in the nervous system, the gastrointestinal system, liver, kidney and skin, multisystemically due to the deficiency or inadequate functioning of one of the eight enzymes taking part in the production of the heme molecule.
Although this disease can affect many systems and cause symptoms, it is a rare disease.
Porphyria, emerged clearly in Turkey around the 1950s, but nowadays it can be diagnosed faster and treated more specifically thanks to the increase in the methods used in diagnosis today, the more conscious employees and the developments in the technological field.
In the diagnosis, checking for the spot urine porphobilinogen, especially at the time of the attack, is effective for us in making quick decisions, and the presence of genetic tests also provides the opportunity to follow up and control individuals at risk of developing the disease.
Material and Methods, Results:
Our study is an overview of 55 diagnosed patients with confirmed genetic results diagnosed, treated and followed up by the specialists in our organization and to learn from individuals who have not been diagnosed in the past and perhaps have this disease, with an overview of the time taken from the appearance of symptoms to treatment, the commonality and frequency of symptoms, the main complaints which they reached the doctors for and their family history. It is aimed to pay attention to the issues that we need to pay attention to, to emphasize the types of symptoms. The average age of patients is 32.5 (SD:15.1). On gender basis 9 male and 46 female patients are in our study. Average BMI of patients is 22.5 (SD:4.4). Gene mutation is detected in 89% of the patients.
Conclusions:
The important point here is that such a comprehensive study has not been carried out in Turkey and many other countries before, it is a precedent for other studies and useful to draw attention to the points to be considered while making a diagnosis from symptoms in the community. Also to reveal the rates of endemic elements or symptoms. We hope that this study will guide other studies as well.

"Uluslararası Porfirinler ve Porfirialar Kongresi (ICPP) 4-7 Eylül 2022 den alınmıştır."