AB0031 FAMILIAL MEDITERENEAN FEVER IN GERMANY- STILL A DEBILITATING DISEASE? A MULITI-CENTRE RETROPSPECTIVE ANALYSIS
Authors: M. Krusche, A. Pankow, T. Kubacki, A. D. Wagner, A. Palmowski, T. Xiong, I. Kötter
Journal: Annals of the Rheumatic Diseases (2024)

<h3>Background:</h3> Familial Mediterranean fever (FMF) is a rare hereditary, autoinflammatory disease that is characterised by recurrent inflammatory episodes of fever, abdominal and thoracic pain attacks as well as serological inflammation. Due to the low prevalence of the disease in Germany, diagnosis is often difficult and time-consuming. Patients often experience a long diagnostic odyssey that is complex and burdensome and causess further physical and socio-economic damage. <h3>Objectives:</h3> The aim of this study was to investigate demographical, socio-economic and disease-associated data, in patients with FMF in a low-incidence country like Germany. <h3>Methods:</h3> Adult FMF patients were included in the study at three German Tertiary Centers. They were asked to report data on demographic background, disease symptoms and duration, as well as diagnostic and surgical interventions, workplace-related issues and psychological disease effects. Depressive disorders were assessed using PHQ-D. The single-item scale L-1 was used to measure life satisfaction. <h3>Results:</h3> We included 132 adult patients (female/male 61/71), median age was 33 years (min 18- max 94) with the confirmed diagnosis of FMF. Demographic analysis of the data shows that the largest proportion of patients with FMF was born in Germany (49,2%), followed by Turkey (18,2%) and Armenia (9,8%), while the country of birth of the parents was most frequently Turkey (53%) and Armenia (11%). The mean age at onset of first symptoms was 12 years (min 0 – max 57). The median time between the first symptom-onset and diagnosis was 7 years (min 0- max 65). Disease-specific inflammatory symptoms are indicated in Table 1. More than half of the patients (53,8%) reported having had abdominal surgery at least once in the past. In this context, 44,7 % of all patients had an appendectomy. Of the patients who underwent surgery 54,3% reported that the suspected diagnosis of appendicitis was not confirmed. Additionally, 20% stated that they did not know the result of the surgery. 83% of the patients reported having missed days of school due to the disease, 22% reported having terminated their education due to FMF and 31% reported having been dismissed from their employment due to the disease. The life satisfaction of the patients was below that of the normal population (mean 6,8, SD 2,5). 21% of the patients met the criteria for a depressive disorder (4). 55% stated that they were tired and lacked energy more than half of the time every day (Figure 1) <h3>Conclusion:</h3> The results of the analysis show that there is an urgent need for improvement in the care of patients with FMF in Germany: The diagnosis of this autoinflammatory disease can take a very long time and a great number of diagnostic and (debilitating) surgical procedures are performed unnecessarily as part of the diagnosis. The analysis also revealed that FMF has a negative impact on the working and professional lives of many of those affected (with frequent loss of employment in one-third of the patients). In addition, a large number of FMF patients showed signs of mental health problems, indicating the need for close monitoring and psychological support for those affected. <h3>REFERENCES:</h3> <b>NIL.</b> <h3>Acknowledgements:</h3> This study was financially supported by Sobi. <h3>Disclosure of Interests:</h3> Martin Krusche Novartis, Abbvie, Lilly, Galapagos, Pfizer, Medac, GSK, Janssen, Medac, Sobi,, Novartis, Abbvie, Lilly, Galapagos, Pfizer, Medac, GSK, Roche, Sobi, Sanofi, Sobi, Novartis, Anne Pankow Sobi, Novartis, Torsten Kubacki: None declared, Annette D. Wagner: None declared, Andriko Palmowski: None declared, Tingting Xiong Novartis, Ina Kötter Novartis, Sobi.