Sindromul VEXAS

Abstract

Introducere. Sindromul VEXAS este o patologie relativ recent descoperită, care se manifesta prin tulburări inflamatorii nespecifice. Respectiv, se poate manifesta prin febră recurentă, erupţii cutanate, anemie, tromboze, etc. Deoarece aceste simptome sunt manifestate şi în alte boli autoimune, este dificil de a stabili diagnosticul. Scopul lucrării. Prezentarea cazului clinic cu scop de familiarizare cu entitatea nozologică VEXAS, prin descrierea tabloului clinic, investigaţiilor paraclinice si a tratamentul recomandat. Materiale si metode. Pacient de 68 ani cu tablou clinic variat, care a prezentat manifestări cutanate (erupţii polimorfe), afectarea sistemului locomotor (artralgii, mialgii, miastenii), a vaselor periferice (vasculita), tulburări hematologice (anemie, trombocitopenie, coagulopatie) si constituţionale (febra cu frisoane). S-au efectuat multiple investigaţii clinice, paraclinice, care denotă elevarea markerilor inflamatori nespecifici (VSH, CRP) şi anemie macrocitară. Rezultate. Pacientul iniţial a fost diagnosticat cu vasculită leucocitoclastică, ulterior a fost investigat şi reevaluat. Astfel in baza tabloului clinic, analizelor de laborator şi în urma cercetării genetice (mutaţia genei UBA1 la nivelul Met41) a fost stabilit diagnosticul de Sindrom VEXAS. A fost iniţiat tratamentul cu tocilizumab şi glucocorticosteroizi, cu efect pozitiv. Concluzii. Stabilirea diagnosticului de sindrom VEXAS prezintă dificultăţi, prin tabloul său clinic variat şi investigaţiile paraclinice nespecifice, astfel necesită abordarea multidisciplinară şi cercetare suplimentară.

Introduction. VEXAS syndrome is a relatively recently discovered condition characterized by nonspecific inflammatory disorders. It can manifest as recurrent fever, skin rashes, anemia, thrombosis, etc. Because these symptoms are also present in other autoimmune diseases, establishing a diagnosis can be difficult. Objective. To present a clinical case aimed at familiarizing with the nosological entity of VEXAS, through the description of the clinical picture, paraclinical investigations, and recommended treatment. Materials and methods. A 68-year-old patient with a varied clinical picture, including cutaneous manifestations (polymorphic rashes), musculoskeletal system involvement (arthralgia, myalgia, myasthenia), peripheral vessel involvement (vasculitis), hematological disorders (anemia, thrombocytopenia, coagulopathy), and constitutional symptoms (fever with chills). Multiple clinical and paraclinical investigations were performed, demonstrating elevated nonspecific inflammatory markers (ESR, CRP) and macrocytic anemia. Results. The patient was initially diagnosed with leukocytoclastic vasculitis, which was later investigated and reevaluated. Thus, based on the clinical picture, laboratory analyses, and genetic research (mutation of the UBA1 gene at the Met41 level), the diagnosis of VEXAS syndrome was established. Treatment with tocilizumab and glucocorticosteroids was initiated, with a positive effect. Conclusions. Establishing the diagnosis of VEXAS syndrome presents difficulties due to its varied clinical picture and nonspecific paraclinical investigations, thus requiring a multidisciplinary approach and further research.