Reumatizam, Vol. 70 No. 1, 2023.
Pregledni rad
https://doi.org/10.33004/reumatizam-70-1-3
PAPA syndrome – diagnostic and therapeutic pa th from pa ediatric to adult rheumatologist
Samir Mehmedagić
orcid.org/0000-0003-3542-3516
; Clinic for Heart, Blood Vessel and Rheumatic Diseases; Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina
Indira Melezović
Emela Čvorak
Amra Mehmedagic
Velma Selmanović
Adisa Čengić
Sažetak
PAPA syndrome (Pyogenic Arthritis, Pyoderma gangrenosum and Acne) is an autosomal dominant, hereditary autoinflammatory disease resulting from mutations in the PST PIP1/CD2BP1 gene on chromosome 15q. The disease begins in childhood, most often from the age of 2 to 11, and it is characterised by a triad of symptoms: pyogenic (sterile) arthritis, pyoderma gangrenosum and acne. The disease usually begins with arthritis and is rarely recognised in the initial stage. The appearance of skin symptoms of the disease, either acne or pyoderma gangrenosum, along with the previously existing arthritis, should arouse suspicion of the existence of PAPA syndrome and direct doctors to perform further genetic testing. The triad of symptoms does not always have to be present, but the presence of two of the three
symptoms with a confirmed gene mutation is a sufficient criterion for the diagnosis of the disease. Biological drugs have shown the greatest effectiveness in treatment, and IL1 inhibitors or TNF alpha inhibitors are most often used medications. In later life, the joint manifestations gradually calm down, but the skin manifestations can last for many years with frequent relapses and remissions even with applied therapy, which makes this syndrome a great challenge for the treatment of this disease. Considering the small number of cases with PAPA syndrome described in the literature, we present to you an interesting case of a twenty five-year-old patient with this disease and his challenging diagnostic and therapeutic path from childhood to adulthood.
Ključne riječi
Hrčak ID:
313700
URI
Datum izdavanja:
23.1.2024.
Posjeta: 200 *