| Popis: |
Background/Aim: Fabry disease is an X-chromosome inherited disease, which constitutes a rare disease group. Fabry disease has a wide spectrum of symptoms and some of these symptoms that are seen in other diseases. Familial Mediterranean fever (FMF) is a common disease in countries along the Mediterranean coast, including our country. Although typical episodes of recurrent high fever and abdominal pain occur, patients can also present with nonspecific symptoms and signs. This study aimed to investigate the presence of Fabry disease in patients with FMF. Methods: Information about this cohort study was given to all patients who were followed up with a diagnosis of FMF. Those who agreed to sign the informed consent form were included in the study. Fabry disease screening was performed by galactosidase alfa (GLA) gene analysis in female patients and by examining lysosomal alpha galactosidase A (AGALA) enzyme activity in male patients. When enzyme activity was found to be low in male patients, a GLA gene analysis was also performed. Results: Fabry disease was screened in a total of 189 patients with familial Mediterranean fever, and it was not detected in any of our patients. Low AGALA enzyme activity was detected in approximately 20% of the male patients. In the GLA gene analysis performed on these patients, any genetic mutation that could be associated with Fabry disease was not detected. Conclusion: People with Fabry disease or FMF can present with common symptoms, such as arthritis, proteinuria, and abdominal pain. In our study, Fabry disease was not found in any of patients who had a diagnosis of FMF. However, only a few publications on this subject are available. In studies conducted in our country and around the world, it has been shown that GLA gene mutations that may cause Fabry disease can be detected in patients with FMF. However, such a mutation was not detected in our study. |
