PAPA sindrom – dijagnostički i terapijski put od pedijatrijskog do adultnog reumatologa

Samir Mehmedagić, Indira Melezović, Emela Čvorak, Amra Mehmedagic, Velma Selmanović, Adisa Čengić

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.

PAPA sindrom (piogeni artritis, pyoderma gangrenosum i akne) je autosomno dominantna, nasljedna autoinflamatorna bolest koja je posljedica mutacije gena PST PIP1/CD2BP1 na kromosomu 15q. Bolest najčešće počinje u djetinjstvu, od druge do jedanaeste godine života, a karakterizira ju trijas simptoma: piogeni (sterilni) artritis, pyoderma gangrenosum i akne. Bolest obično počinje artritisom i rijetko se prepoznaje u ranim fazama bolesti. Pojava kožnih simptoma bolesti, bilo akni ili pyoderma gangrenosum, uz prethodno postojeći artritis, trebala bi pobuditi sumnju na postojanje PAPA sindroma te uputiti liječnike na daljnje genetsko testiranje. Trijas simptoma ne mora uvijek biti prisutan, ali postojanje dva od tri simptoma uz potvrđenu mutaciju gena dovoljan je kriterij za dijagnozu bolesti. veću učinkovitost u liječenju pokazali su biološki lijekovi, a najčešće su korišteni inhibitori IL-1 i TNF alfa. U kasnijoj životnoj dobi zglobne se manifestacije postupno smiruju, ali kožne manifestacije mogu trajati godinama s čestim relapsima i remisijama čak i uz uključenu terapiju, što ovaj sindrom čini velikim izazovom za liječenje. S obzirom na mali broj slučajeva s PAPA sindromom opisanih u literaturi, predstavljamo Vam zanimljiv slučaj dvadesetpetogodišnjeg bolesnika s ovom bolešću i njegov zahtjevan dijagnostički i terapijski put od djetinjstva do odrasle dobi.