|Year : 2020 | Volume
| Issue : 3 | Page : 136-138
A rare case of anti-jo1 syndrome presenting as a interstitial lung disease
A Kirubanandam1, R Sridhar2, R Narasimhan3, VL Arulselvan4
1 Department Respiratory Medicine, Apollo Hospitals, Chennai, Tamil Nadu, India
2 Department of Respiratory Medicine, Sundaram Medical Foundation, Chennai, Tamil Nadu, India
3 Department of Respiratory Medicine, Apollo Main Hospital, Chennai, Tamil Nadu, India
4 Department of Neurology, Apollo Main Hospital, Chennai, Tamil Nadu, India
|Date of Submission||20-Feb-2021|
|Date of Decision||14-Mar-2021|
|Date of Acceptance||15-Mar-2021|
|Date of Web Publication||28-Apr-2021|
Post Graduate, Department Respiratory Medicine, Apollo Hospitals, Chennai, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Antisynthetase syndrome is a rare entity and can be missed if not specifically looked in patients whose initial presentation is with Interstitial Lung Disease. Prognosis is altered when patients presenting with Interstitial Lung Disease. A 45 years old lady with no known comorbidities came with complaints of fever, breathlessness and cough for 4 months. She also had history of muscle weakness. She was treated as COVID pneumonia with oral steroids as her CT chest showed bilateral GGO's. When she came to our hospital she was afebrile, hemodynamically stable, SPo2-88% on room air. She was negative for COVID and COVID antibodies were also negative. On Investigations her CPK, Aldolase, CKMB were elevated. Her ENA profile showed positive anti-Jo1 and anti Ro 52 antibodies. Electromyography and Muscle biopsy suggestive of Inflammatory Myopathy. PFT showed restrictive pattern with reduced Diffusing Capacity of Lung for Carbon Monoxide(DLCO). She was treated with high dose oral steroids and cyclophosphamide. She responded well to the treatment and discharged. Though antisynthetase syndrome is a rare disease, we should keep in mind when patients presenting with interstitial Lung disease. Patients presenting with ILD have guarded prognosis.
Keywords: Anti Jo-1 Syndrome, ILD, Myositis
|How to cite this article:|
Kirubanandam A, Sridhar R, Narasimhan R, Arulselvan V L. A rare case of anti-jo1 syndrome presenting as a interstitial lung disease. J Assoc Pulmonologist Tamilnadu 2020;3:136-8
|How to cite this URL:|
Kirubanandam A, Sridhar R, Narasimhan R, Arulselvan V L. A rare case of anti-jo1 syndrome presenting as a interstitial lung disease. J Assoc Pulmonologist Tamilnadu [serial online] 2020 [cited 2021 Sep 20];3:136-8. Available from: http://www.japt.com/text.asp?2020/3/3/136/314968
| Introduction|| |
Anti synthetase syndrome (ASS) is considered as subgroup of idiopathic inflammatory myopathies (IIM). ASS is a chronic inflammatory disease of unknown cause. IIM is divided into three subgroups such as sporadic inclusion body myositis, polymyositis (PM), and dermatomyositis (DM). ASS is a subtype of DM/PM. These patients usually present with fever, exanthema on the hands, myositis, and/or interstitial lung disease (ILD) and/or articular involvement. The prognosis is determined by the severity and type of pulmonary involvement. Anti Jo-1 was the first anti- Anti Synthetase Syndrome (ARS) discovered. It is the strongest predictor of ILD in patients with ASS. Around 70% of patients with ASS with ILD have detectable anti-Jo-1. We discuss a case of a patient who initially presented with features suggestive of ILD, on further evaluation led to diagnosis of ASS. It is rarely seen in south Asia, and this case report is to highlight the importance of keeping in mind about autoimmune conditions in our patients when common conditions have been excluded.
| Case Report|| |
A 45-year-old female with no known comorbidities came with complaints of fever and shortness of breath for the past 4 months. Initially, she has been evaluated in outside hospital; COVID-19 reverse transcription-polymerase chain reaction (RT PCR) was negative. Computed tomography (CT) chest showed bilateral GGOs [Figure 1]. She was treated as viral pneumonia and treated with steroids. However, she has consulted many physicians for recurrence of symptoms, and she showed temporary response during the course of treatment. She came to our hospital with fever and increased breathlessness for 4 days. On arrival, she was afebrile, hemodynamically stable, Spo-88% on room air. Her counts, liver enzymes, and serum Beta-D-Glucan (BDG) were elevated. As we had the COVID pandemic, we repeated the COVID RT-PCR which was negative again.
Bronchoscopy done, and bronchial wash was not conclusive. During the course of treatment, she had weakness of left lower limb and skin excoriation seen over the fingers [Figure 2]. We checked her CPK, CPK-MB, and Aldolase levels as per neurologist advice which was elevated. After discussing with rheumatologist, neurologist extractable nuclear antigen profile, muscle biopsy, and electromyography were done. Electromyography showed features of Inflammatory Myopathy. Anti-jo-1 and anti-Ro 52 antibodies were positive. Muscle biopsy showed features of inflammatory myopathy. Pulmonary function testing (PFT) showed restrictive pattern and DLCO significantly reduced. She was treated with oral steroids and cyclophosphamide. She responded well and improved symptomatically and discharged.
| Discussion|| |
ASS is a chronic autoimmune disorder. Although the pathophysiology is not understood entirely, autoantibodies against aminoacyl-tRNA synthetase appear to be linked to the cause of this syndrome. In genetically predisposed individuals, viral infections may trigger these autoantibodies., The most common among these autoantibodies is anti-Jo-1 antibodies. The incidence of anti-Jo-1-positive cases ranges from 1.2 to 2.5/million. Most commonly affected patients are 50 years of age (range of 22–74 years) with female predominance.
It manifests as inflammatory myopathies, ILD, Mechanic's hand, and Raynaud's phenomenon. Myositis occurs in more than 90% of cases, whereas ILD has been seen in 60%of patients. ILD patients usually present with dyspnea on exertion and dry cough. This patient had initially presented with respiratory symptoms, later she developed symptoms of myositis; on detailed examination, we found Mechanic's hand [Figure 2]. Based on high-resolution CT (HRCT) chest, ILD in this group of patients is subdivided into three subgroups: COP, nonspecific interstitial pneumonia (NSIP), and usual interstitial pneumonia. In our case, her HRCT chest was suggestive of NSIP pattern with Ground glass opacities [Figure 1] Inflammatory arthritis is seen in 50% of patients. It is usually nonerosive, nondeforming symmetrical polyarthritis. The diagnosis requires the presence of autoantibodies along with two major or one major and two minor criteria from the following list.
- PM or DM.
- Raynaud's phenomenon
- Mechanic's hands.
In our patient, she has fulfilled one major and 2 min or criteria along with anti-jo1 antibodies. Muscle enzymes such as CPK and aldolase are usually elevated. Clinical features are more important than lab findings. Concomitance occurrence of ILD and myositis increases the likelihood of positive anti-Jo-1 antibodies. PFT will show restrictive pattern. NSIP is the most common form seen in HRCT chest. Muscle biopsy aids in the diagnosis of ASS. HPE reveals perimysial inflammation with macrophage and lymphocytic infiltration. Electromyography is nonspecific test, and it is used to differentiate weakness of myopathic and neuropathic origin. MRI lacks specificity and sensitivity.,
Glucocorticoids are the treatment of choice. Initially steroids will be started at high doses (1mg/kg/day) for 4-6 weeks, then tapered over 9-12 months to the lowest effective dose. Immunosuppressive therapy is initiated as steroid-sparing therapy. Intravenous immunoglobulin therapy is recommended in patients who fail to respond to combined steroid and azathioprine therapy. In our case, she responded well with steroids and cyclophophamide. Symptomatic improvement is a better maker of response to treatment. Age more than 60 years, presence of malignancy, negative ANA, and lung involvement are markers of poor prognosis.
| Conclusion|| |
This case report stresses the importance of suspecting ASS in patients presenting with ILD. ILD patients should be screened for features of inflammatory myopathies. There is considerable clinical heterogeneity. Myositis-specific antibody is not done routinely in initial workup of ILD patients but need to be done in ILD patients with myositis clinical features.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Authors would like to thank Department of Neurology, Rheumatology.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2]