An interdisciplinary diagnostic approach successful in diagnosing rare diseases using Behçet’s disease as an example
 
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1
Ludwik Rydygier Memorial Hospital, Kraków, Poland
 
2
5th Military Clinical Hospital in Kraków, Poland
 
3
Stefan Żeromski Specialist Hospital, Kraków, Poland
 
These authors had equal contribution to this work
 
 
Corresponding author
Katarzyna Gołojuch   

Szpital Specjalistyczny im. Ludwika Rydygiera w Krakowie, os. Złotej Jesieni 1, 31-826 Kraków
 
 
Ann. Acad. Med. Siles. 2025;79:70-74
 
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ABSTRACT
Behçet’s disease (BD) is an inflammatory and autoimmune disorder that develops in individuals with a genetic predisposition who are simultaneously exposed to certain environmental factors. It is believed that mediators of the inflammatory response, by initiating the migration of inflammatory cells into tissues, trigger an autoimmune response. This response leads to a systemic inflammatory process, resulting in the clinical manifestations of BD. We present the case of a 39-year-old female patient referred to the internal medicine department with non-specific systemic symptoms and high levels of inflammatory parameters in her blood. She had a history of recurrent oral aphthae, genital ulcers on admission, as well as skin and musculoskeletal lesions of an upper limb. Following an extensive differential diagnosis, a diagnosis of BD was made. The paper describes the diagnostic difficulties and the multidisciplinary approach that is crucial in making an accurate diagnosis, especially in rare diseases.
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