Abstract
BACKGROUND: Fabry disease (FD) is a rare hereditary X-linked disorder of glycosphingolipid metabolism caused by a deficiency of α-galactosidase A leading to the accumulation of glycosphingolipids in lysosomes. Clinical manifestations vary widely, involving multiple organs. Delays in diagnosis and deficits in primary care are common due to the limited familiarity with this rare disease in primary care providers [PCPs; including general practitioners (GPs), family physicians, and specialists in internal medicine]. This study aims to assess the real-world healthcare situation of FD patients in Germany through a questionnaire-based approach. METHODS: In this cross-sectional study, 103 FD patients were consecutively recruited from several medical institutions in Germany and Austria between August 2022 and April 2024. The study adhered to ethical guidelines and received approvals from all relevant ethics committees. Inclusion criteria included confirmed FD diagnosis, age 18 years or older, and the ability to provide informed consent. Data were collected using a 32-question survey covering demographics, comorbidities, care structures, information needs, quality of life (QoL), and challenges. Descriptive statistical methods were used for data analysis of the study population. RESULTS: The analysis included 103 completed questionnaires. The average age of the patient cohort was 49.3±16.2 (range, 18-94) years, with a higher proportion of women (61.2%) participating. The most common symptoms reported were hearing loss/tinnitus (45.6%), followed by thermal sensory disturbances and hypohidrosis (43.7%). A majority of PCP (86.4%) were aware of their patients' FD diagnosis. Overall, 61.2% of patients were not primarily treated by their PCP, but in collaboration with Fabry specialists. Only 63.1% of the patients had received care in a FD competence centre. There was a significant need for advice, especially regarding old-age security (40.0%), nutrition/exercise (39.8%), and resilience in everyday life (37.9%). The awareness among patients, that Fabry competence centers exist which are specialized in Fabry treatment, was limited, with only 64.7% of patients being sufficiently informed. Also, knowledge regarding specific FD self-help groups was limited to 61.2% of patients. FD patients reported a reduced mean QoL score of 78.8±16.7, with pain having the most significant impact on QoL (64.1%). CONCLUSIONS: Using a novel patient-reported questionnaire, this study reveals for the first time the state of medical care of FD-patients under "real life" conditions. This study highlights significant deficiencies in the medical care of FD patients in Germany, including insufficient knowledge of specialized centers and patient organizations, as well as unmet counselling needs. Despite the availability of at least 24 FD competence centers in Germany, many patients remain under the care of GPs who may lack specific knowledge about FD. Since FD is a rare disease, enhanced education for both patients and GPs about FD and about the benefits of specialized care and patient organizations is crucial. Additionally, comprehensive counselling services should be developed to address the various needs of FD patients. Future research should investigate the overall care situations also in other countries to provide a broader understanding and to improve global health care standards for FD patients.