Abstract
BackgroundTo summarize the characteristics of gastrointestinal (GI) perforation in anti-nuclear matrix protein 2 (NXP2) antibody-associated juvenile dermatomyositis (JDM).MethodsFive patients with GI perforation from a JDM cohort of 120 cases are described. Relevant literature was reviewed.ResultsFive patients, including four females and one male, were included in the study. The age of onset of these patients ranged from 3.3 to 9.5 years with the median age of 5.0 years. When these patients were complicated by GI perforation, childhood myositis assessment score (CMAS) ranged from 1 to 5 with the median score of 2. Myositis-specific antibody (MSA) spectrum analysis indicated that the five patients were anti-NXP2 antibody positive. The initial symptoms of GI perforation were progressive abdominal pain and intermittent fever. Two patients also presented with ureteral calculus with hydronephrosis and ureteral stricture. Surgery was performed in four patients. One patient failed to undergo a repair as the perforation was high in position. For the other three patients, perforation repair was successful, of which two patients failed due to recurrent perforation. At 24 months postoperative follow-up, one patient was in complete remission on prednisone (Pred) and methotrexate (MTX) treatment, and her ureteral stricture had disappeared. The other four patients died. Adding these cases with 16 other patients described in the literature, the symptom at onset was progressive abdominal pain, which often occurred within 10 months after JDM was diagnosed. Perforation most commonly occurred in the duodenum, although it also occurred at multiple sites or was recurrent. The mortality rate of GI perforation in JDM was 38% (8/21).ConclusionsAll the five perforation cases in our study subjected to MSA analysis were anti-NXP2 antibody positive. The symptom at onset was abdominal pain. The most common site of perforation was the duodenum in the retroperitoneum, and the lack of acute abdominal manifestations prevented early diagnosis. GI perforation may be a fatal complication in JDM, and early diagnosis is very important. More research is needed to determine the pathogenesis and predictive factors of GI perforation in JDM.
Highlights
To summarize the characteristics of gastrointestinal (GI) perforation in anti-nuclear matrix protein 2 (NXP2) antibody-associated juvenile dermatomyositis (JDM)
All five patients showed severe rashes, skin ulcers, and weakness of the skeletal muscles. When these patients were complicated by GI perforation, childhood myositis assessment score (CMAS) ranged from 1 to 5 with the median score of 2, cutaneous assessment tool (CAT) activity score ranged from 2 to 7 with the median score of 6, CAT damage score ranged from 3 to 6 with the median score of 5
Perforations were reported in the duodenum (10/16, 62.5%), colon (6/16, 37.5%), jejunum (2/ 16, 12.5%), oesophagus (2/16, 12.5%), gastric pylorus (1/ 16, 6.25%), caecum (1/16, 6.25%) and an unclear location (1/16, 6.25%); perforations at multiple sites or recurrent perforations were reported in six patients (6/16, 37.5%)
Summary
To summarize the characteristics of gastrointestinal (GI) perforation in anti-nuclear matrix protein 2 (NXP2) antibody-associated juvenile dermatomyositis (JDM). Juvenile dermatomyositis (JDM) is an autoimmune disease characterized by proximal myopathy and a characteristic rash. The presence of anti-nuclear matrix protein 2 (NXP2) autoantibodies substantially increases the risk of calcinosis across all ages and is associated with disease severity [4]. The role of MSAs in cases of JDM complicated by GI perforation has not been reported. From among 120 patients with JDM, we report five cases complicated by GI perforation. All five patients had anti-NXP2 antibodyassociated JDM. We reviewed the other JDM cases with GI perforation reported in the literature to improve our recognition of this disease. Anti-NXP2 autoantibodies may facilitate early diagnosis of the disease
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
