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LETTER TO EDITOR
Ahead of print publication  

An atypical presentation of antisynthetase syndrome


1 Department of Internal Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India
2 Department of Rheumatology, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India

Date of Submission25-May-2020
Date of Acceptance06-Jun-2020

Correspondence Address:
Mayank Kapoor,
Department of Internal Medicine, All India Institute of Medical Sciences, Rishikesh - 249 203, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/injr.injr_134_20



How to cite this URL:
Kapoor M, Dhar M, Manna S. An atypical presentation of antisynthetase syndrome. Indian J Rheumatol [Epub ahead of print] [cited 2020 Aug 9]. Available from: http://www.indianjrheumatol.com/preprintarticle.asp?id=290260



Dear Editor,

Antisynthetase antibody syndrome is an autoimmune condition characterized by autoantibodies against aminoacyl transfer-RNA synthetases. The various features including interstitial lung disease (ILD), myositis, Raynaud's phenomenon, arthritis, and mechanic hands may present at different points in time, the diagnosis being challenging in the absence of specific antibody assays. Here, we report an elderly female with antisynthetase antibody syndrome having only select features of this syndrome, many of these being atypical, leading to a delayed diagnosis.


  Case Details Top


A 66-year-old female developed symmetric inflammatory polyarthritis of the small and large joints for the past 4 years. Two years into the illness she started complaining of progressive breathlessness. The female developed fever 4 months before the presentation. The development of proximal muscle weakness 2 months later raised a suspicion for the antisynthetase syndrome (ASSD). She also reported progressive dysphagia for a month and a half. On examination, reducible boutonniere deformity was noted bilaterally. Skin thickening was noted over all the fingers distal to the proximal interphalangeal joint and around the oral aperture along with a decrease in mouth opening. The chest examination revealed bilateral velcro crepitations in the infrascapular region.

She was anemic (hemoglobin 8.9 g%) and had polymorpho-leukocytosis (total counts, 19360/mm3 with 80% polymorphs) though renal and hepatic function tests were normal (AST-51 and ALT-52). Muscle enzymes were elevated (CPK-863 and LDH-864). Computerized tomography of the thorax showed features suggestive of usual interstitial pneumonia (UIP) and ILD, with honeycombing, reticular abnormalities, and subcarinal lymphadenopathy (3 cm) and electromyography was suggestive of the myopathic pattern. Muscle biopsy revealed preserved fascicular architecture, polygonal fibers with mild variation in size, few scattered necrotic, and myophagocytic fibers with occasional hypertrophic round fibers having internalized nuclei and few regenerating fibers but no active inflammation. Rheumatoid factor and anticyclic citrullinated peptide-2 antibody turned out to be negative, and there was an absence of joint erosions, while anti-Jo-1 antibodies were positive by immunoblot method, suggesting a diagnosis of ASSD. Glucocorticoids at a dose of 1 mg/kg of prednisolone led to symptomatic improvement and reduced arthritis over the next 3 months, although her deformities persisted [Figure 1].
Figure 1: Timeline of patient symptomatology, diagnosis, and follow-up

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  Discussion Top


The presence of deforming arthritis and UIP ILD had prompted a diagnosis of rheumatoid arthritis, but nonerosive nature and seronegativity suggested an alternate diagnosis. The onset of myositis later in the disease course led to a suspicion of ASSD. Anti-Jo-1 is fairly specific for the diagnosis, the criteria requiring one or more of ILD, Raynaud's phenomenon, arthritis, fever (in the absence of other cause), and mechanic hands in the presence of antibody.[1] The patient had skin thickening along with a decrease in the oral opening. Recently, an overlap has been suggested between anti-PM-Scl and antisynthetase syndrome owing to shared pathogenesis, and anti-PM-Scl positive inflammatory myopathies can present clinically such as ASSD.[2],[3] Although here anti-PM-Scl antibodies were absent, anti-Jo-1 syndrome may present with sclerodermatous skin changes, which is an important finding. The presence of mechanic hands has also been described in 35% of dermatomyositis and 15.4% of scleroderma.[4] Involvement of lungs is seen with higher frequency (86%) amongst ASSD individuals showing Anti-Jo-1 positivity. Non-Specific Interstitial pneumonia (NSIP) is the commonest type, while UIP, organizing pneumonia or diffuse alveolar damage pattern maybe seen in <20 % individuals. ILD is associated with an excessive mortality rate of about 40%. Notably, most patients with ASSD are partial to begin with, a full spectrum of manifestations being seen in only two-thirds on a 2-year follow-up period.[5] Raynaud's phenomenon is present in about 66% of early ASSD and may precede myositis by several years, although was absent in this case. Arthritis is seen mostly in seropositive antisynthetase individuals (64%–83%) compared with seronegative (18%). Fever may be seen in about 20% of cases. Here, mechanic hands were absent, high-resolution computed tomography suggested UIP instead of NSIP pattern, and sclerodermatous skin changes were present. This case is an important learning lesson for a high suspicion for antisynthetase among physicians for the diagnosis as partial and atypical symptoms are common.[5]


  Conclusions Top


  • ASSD can present with a myriad of features
  • Anti-Jo-1 can present with sclerodermatous skin changes and myositis
  • Awareness of partial forms among physicians is important for the diagnosis.


Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Connors GR, Christopher-Stine L, Oddis CV, Danoff SK. Interstitial lung disease associated with the idiopathic inflammatory myopathies: What progress has been made in the past 35 years? Chest 2010;138:1464-74.  Back to cited text no. 1
    
2.
Chinoy H, Payne D, Poulton KV, Fertig N, Betteridge Z, Gunawardena H, et al. HLA-DPB1 associations differ between DRB1*03 positive anti-Jo-1 and anti-PM-Scl antibody positive idiopathic inflammatory myopathy. Rheumatology (Oxford) 2009;48:1213-7.  Back to cited text no. 2
    
3.
Alves SP, Silva MG, Borges IB, Shinjo SK. Patients with pure dermatomyositis/polymyositis and anti-PM/Scl autoantibody resembling anti-synthetase syndrome. Med Express 2018;5:mo18002.  Back to cited text no. 3
    
4.
Shenavandeh S, Habibi S, Habibi Y, Nazarinia M. Mechanic hands: Clinical and capillaroscopy manifestations of patients with connective tissue diseases presented with and without mechanic hands. Clin Rheumatol 2019;38:2309-18.  Back to cited text no. 4
    
5.
Cavagna L, Nuño L, Scirè CA, Govoni M, Longo FJ, Franceschini F, et al. Clinical spectrum time course in anti Jo-1 positive antisynthetase syndrome: Results from an international retrospective multicenter study. Medicine (Baltimore) 2015;94:e1144.  Back to cited text no. 5
    


    Figures

  [Figure 1]



 

 
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