| Autor: |
Bobirca A; Department of Internal Medicine and Rheumatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.; Department of Internal Medicine and Rheumatology, 'Dr. Ion Cantacuzino' Clinical Hospital, 011437 Bucharest, Romania., Alexandru C; Department of Internal Medicine and Rheumatology, 'Dr. Ion Cantacuzino' Clinical Hospital, 011437 Bucharest, Romania., Musetescu AE; Department of Rheumatology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Bobirca F; Department of General Surgery, Carol Davila University of Medicine and Pharmacy, 'Dr. Ion Cantacuzino' Clinical Hospital, 050474 Bucharest, Romania., Florescu AT; Department of Internal Medicine and Rheumatology, 'Dr. Ion Cantacuzino' Clinical Hospital, 011437 Bucharest, Romania., Constantin M; 2nd Department of Dermatology, Colentina Clinical Hospital, 'Carol Davila' University of Medicine and Pharmacy, 020125 Bucharest, Romania., Tebeica T; Department of Histopathology, 'Dr. Leventer Centre', 011216 Bucharest, Romania., Florescu A; Department of Rheumatology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania., Isac S; Department of Physiology and Neuroscience, 'Carol Davila' University of Medicine and Pharmacy, 050474 Bucharest, Romania., Bojinca M; Department of Internal Medicine and Rheumatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.; Department of Internal Medicine and Rheumatology, 'Dr. Ion Cantacuzino' Clinical Hospital, 011437 Bucharest, Romania., Ancuta I; Department of Internal Medicine and Rheumatology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.; Department of Internal Medicine and Rheumatology, 'Dr. Ion Cantacuzino' Clinical Hospital, 011437 Bucharest, Romania. |
| Abstrakt: |
Clinically amyopathic Dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis, associated with no muscular manifestations, which is more frequent in Asian women. Anti-melanoma differentiation-associated gene 5 (MDA5) antibodies are a recently discovered type of specific autoantibodies associated with myositis. The anti-MDA5 DM was initially described in Japan and later it was discovered that the target antigen was a protein implicated in the innate immune response against viruses, that is encoded by the melanoma differentiation-associated gene 5. Anti-MDA5 DM is characteristically associated with distinguished mucocutaneus and systemic manifestations, including skin ulcerations, palmar papules, arthritis, and interstitial-lung disease. Patients with anti-MDA5 positivity have a high risk of developing rapid progressive interstitial-lung disease (RP-ILD), with a poor outcome. As a result, despite high mortality, diagnosis is often delayed, necessitating increased awareness of this possible condition. Despite a severe course of lung disease and an increased mortality rate, there is currently no standard treatment. Recent insights based on observational studies and case reports support combined therapy with immunosuppressive drugs and corticotherapy, as soon as the symptoms appear. The aim of this paper is to describe anti-MDA5 DM, focusing on the recent literature about the unique clinical manifestations and therapeutic options, starting from a severe clinical case diagnosed in our Rheumatology Department. |
