Logvinova Darija, Žentiņa Dace, Ivanova Kristīne, Buliņa Inita, Kravale Zaiga
Department of Lung Diseases and Thoracic Surgery, Pauls Stradins Clinical University Hospital, Riga, Latvia.
Riga Stradins University, Riga, Latvia.
Eur J Case Rep Intern Med. 2024 Nov 29;11(12):005036. doi: 10.12890/2024_005036. eCollection 2024.
Clinically amyopathic dermatomyositis (CADM) is a rare subtype of idiopathic inflammatory myositis often linked with the presence of autoantibodies targeting melanoma differentiation-associated protein 5 (MDA5). Patients with CADM are at increased risk of developing rapidly progressing interstitial lung disease, which significantly increases both morbidity and mortality compared to other forms of inflammatory myopathies. While there is no standardized treatment regimen, current therapeutic strategies are generally focused on combination immunosuppressive therapies. Despite early diagnosis and immunosuppressive therapy, the disease remains highly aggressive and is associated with a poor prognosis.
This report describes the case of a 63-year-old previously healthy male who developed acute interstitial pneumonia. Polymerase chain reaction testing for pneumonia pathogens and routine autoimmune antibody screening were both negative. Despite treatment with corticosteroids and broad-spectrum antibiotics, the patient's condition continued to deteriorate. A multidisciplinary team was assembled, and a myositis antibody panel was ordered, which led to the diagnosis of anti-MDA5 associated clinically amyopathic dermatomyositis. The patient was initiated on treatment with cyclophosphamide, intravenous immunoglobulin, and a calcineurin inhibitor. However, his condition remained critical, and he ultimately succumbed to respiratory failure.
In all cases of rapidly progressive interstitial pneumonia of unclear aetiology, anti-MDA5-associated interstitial lung disease should be considered, regardless of the presence or absence of extrapulmonary manifestations. Despite early recognition and aggressive immunosuppressive therapy, patients with anti-MDA5-associated rapidly progressive interstitial lung disease face a mortality risk of up to 80%. A multidisciplinary approach, with collaboration between specialized centres, is crucial for early diagnosis and timely initiation of treatment.
Anti-melanoma differentiation-associated protein 5 (anti-MDA5) associated clinically amyopathic dermatomyositis (CADM) is an extremely rare disease associated with significantly higher morbidity and mortality compared to other inflammatory myopathies.This report describes a unique case of a patient who presented with an acute interstitial pneumonia and rapidly progressing respiratory failure due to an undiagnosed anti-MDA5 amyopathic dermatomyositis, without any of the typical dermatomyositis symptoms or physical exam findings.Diagnosis of anti-MDA5 amyopathic dermatomyositis is challenging and standardized treatments for this disease have not been fully developed, which highlights the importance of multidisciplinary approach and collaboration between medical centres.
临床无肌病性皮肌炎（CADM）是特发性炎性肌病的一种罕见亚型，常与靶向黑色素瘤分化相关蛋白5（MDA5）的自身抗体的存在有关。CADM患者发生快速进展性间质性肺病的风险增加，与其他形式的炎性肌病相比，其发病率和死亡率均显著升高。虽然尚无标准化治疗方案，但目前的治疗策略通常集中在联合免疫抑制治疗上。尽管进行了早期诊断和免疫抑制治疗，该疾病仍然具有高度侵袭性，且预后不良。
本报告描述了一名63岁既往健康男性发生急性间质性肺炎的病例。肺炎病原体的聚合酶链反应检测和常规自身抗体筛查均为阴性。尽管使用了皮质类固醇和广谱抗生素进行治疗，患者的病情仍持续恶化。组建了一个多学科团队，并安排了肌炎抗体检测，结果诊断为抗MDA5相关的临床无肌病性皮肌炎。患者开始接受环磷酰胺、静脉注射免疫球蛋白和钙调神经磷酸酶抑制剂治疗。然而，他的病情仍然危急，最终死于呼吸衰竭。
在所有病因不明的快速进展性间质性肺炎病例中，无论有无肺外表现，均应考虑抗MDA5相关的间质性肺病。尽管早期识别并积极进行免疫抑制治疗，但抗MDA5相关的快速进展性间质性肺病患者的死亡风险高达80%。多学科方法以及专业中心之间的合作对于早期诊断和及时开始治疗至关重要。
抗黑色素瘤分化相关蛋白5（抗MDA5）相关的临床无肌病性皮肌炎（CADM）是一种极其罕见的疾病，与其他炎性肌病相比，其发病率和死亡率显著更高。本报告描述了一个独特的病例，该患者因未确诊的抗MDA5无肌病性皮肌炎出现急性间质性肺炎和快速进展的呼吸衰竭，且无任何典型的皮肌炎症状或体格检查发现。抗MDA5无肌病性皮肌炎的诊断具有挑战性，针对该疾病的标准化治疗尚未完全确立，这凸显了多学科方法以及医学中心之间合作的重要性。
