Abstract Introduction Dermatomyositis (DM) is classically characterized by distinctive skin and muscle involvement, though in certain cases, pulmonary manifestations may occur, including the development of rapidly progressive interstitial lung disease (RP-ILD). Anti-melanoma differentiation-associated gene 5 (MDA5) DM is a recently identified subtype of DM associated with RP-ILD. Anti-MDA5 antibodies with RP-ILD have a poor prognosis and treatment with steroids and immunotherapy have limited impact on projected mortality. Early recognition and high clinical suspicion of Anti-MDA5 is essential since early intervention and referral for transplant can improve outcomes. Case Description Our 38 year old female with no medical history presented to the emergency department for months of cough and fevers not responsive to courses of antibiotics as well as joint pains and facial swelling. Upon arrival, she was hemodynamically stable but was hypoxic to 92% on room air which improved with 2L NC. CT chest showed extensive bilateral, lower lobe-predominant patchy peri-bronchovascular and sub-pleural opacities with interstitial thickening (Figure 1). She was initially treated with Zosyn and Doxycycline but failed to improve and developed worsening hypoxia and was transferred to the ICU. In the ICU, there was suspicion for RP-ILD and anti-MDA5 given findings of progressive ILD on CT imaging, peri-orbital rash, mechanic’s hands and worsening of her constitutional symptoms. The patient was started on pulse dosed steroids, IVIG, Xeljanz and transferred to a tertiary care center for rapid evaluation for lung transplant. There, the patient was confirmed to be anti-MDA5 positive and underwent expedited lung transplant evaluation and double lung transplant. The patient had an uneventful post operative course and was discharged home. Discussion Anti-MDA-5 RP-ILD poses a significant diagnostic and therapeutic challenge as the initial presentation is often nonspecific and can mimic an array of different pathologies, delaying appropriate treatment. In cases of RP-ILD, high clinical suspicion of MDA5 should be maintained and transfer to a transplant center should be considered given the risk of deterioration. While early immunosuppressive therapy is recommended, it offers limited mortality benefit compared to lung transplantation, underscoring the need for early diagnosis, targeted management, and timely transplant referral. Ongoing research is needed to enable earlier recognition of MDA5-positive disease and prompt initiation of immunosuppression and transplant evaluation to improve outcomes. In our case, given the high suspicion for MDA5, the patient was started on immunosuppressive therapy and transferred to a transplant-capable center prior to confirmation of the diagnosis to expedite care. This abstract is funded by: None
Zhao et al. (Fri,) studied this question.