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Antisynthetase Syndrome

CHP


Presentation

  • It rarely presents with symmetric arthritis as the initial manifestation of the disease.[ncbi.nlm.nih.gov]
  • Physicians should be familiar with its variety of clinical presentations and should include it in the differential diagnosis in patients presenting with unexplained interstitial lung disease.[ncbi.nlm.nih.gov]
  • RESULTS: The cohort included 33 patients; most were white women with a mean age at presentation of 55 years. Their pulmonary physiologic impairment was moderate.[ncbi.nlm.nih.gov]
  • A 35-year-old Afro-Caribbean woman presented with dyspnoea, urticarial rash and myalgia 1 month after treatment for a community-acquired respiratory tract infection.[ncbi.nlm.nih.gov]
  • In this report, we present a patient who presented with features of rhabdomyolysis and was diagnosed with antisynthetase syndrome.[ncbi.nlm.nih.gov]
Rigor
  • Since 1976 eight different ASA have been rigorously identified, of which anti-hystidyl-tRNA synthetase (anti-Jo1) is the most prevalent.[ncbi.nlm.nih.gov]
Abdominal Distension
  • Along with his worsening dyspnea, he also had a dry cough, lower extremity edema, and abdominal distension. He had gained 11 kg over 1 month. He had been taking prednisone 40 mg daily 2 months prior, which had been recently weaned to 20 mg daily.[ncbi.nlm.nih.gov]
Oral Ulcers
  • We present 2 patients with orofacial disease: one with aphthous-like oral ulceration and the other with hyposalivation.[ncbi.nlm.nih.gov]
Blister
  • Skin examination revealed erythematous and hemorrhagic papules, macules, and blisters on the lower leg. A diagnosis of LYG was made on a skin biopsy showing large angiocentric Epstein-Barr virus (EBV)-positive B cells.[ncbi.nlm.nih.gov]
Hand Tremor
  • We describe the case report of a 53-year-old man who presented with proximal muscle weakness and a history of bilateral hand tremor.[ncbi.nlm.nih.gov]

Workup

  • The presence of these characteristic lesions prompted a rheumatologic workup that led to the diagnosis of a rare autoimmune disorder.[ncbi.nlm.nih.gov]
  • An additional workup showed negative anti-neutrophil cytoplasmic antibodies, negative anti-SSA antibodies, and negative PM-Scl antibodies.[the-rheumatologist.org]
Pericardial Effusion
  • Characteristic skin manifestations, including Gottron's sign, interstitial lung disease, and pericardial effusion, appeared later in the clinical course.[ncbi.nlm.nih.gov]
  • All patients had myositis (12 polymyositis, 5 dermatomyositis, and 1 amyopathic dermatomyositis), 10 (55.6%) had interstitial lung disease, and 9 (50%) had pericardial effusion.[ncbi.nlm.nih.gov]
  • RESULTS: Anti-PL7 patients exhibited polymyositis (n 14) and dermatomyositis (n 1); extra-pulmonary manifestations of ASS included: Raynaud's phenomenon (40%), mechanic's hands (33.3%), joint impairment (26.7%), pericardial effusion (20%) and esophageal[ncbi.nlm.nih.gov]

Treatment

  • This treatment also allowed, in our case, for the regression of the chronic immunodeficiency secondary to rituximab treatment.[ncbi.nlm.nih.gov]
  • Management and treatment Oral corticosteroids (prednisone) and immunosuppressive agents are the mainstay of treatment. There is no consensus on treatment regimens in AS syndrome.[orpha.net]
  • Rituximab treatment was tolerated well in the majority of cases.[ncbi.nlm.nih.gov]
  • Because of the aggressive nature of her disease and poor prognostic indices present, a decision was made to add TPE to her treatment. She underwent five sessions of TPE.[ncbi.nlm.nih.gov]

Prognosis

  • All patients maintain good prognosis so far.[ncbi.nlm.nih.gov]
  • The prognosis of the disease is quite limited when compared to other inflammatory myopathies with negative antisynthetase antibodies.[ncbi.nlm.nih.gov]
  • We also review other case reports of this rare disorder of poor prognosis.[ncbi.nlm.nih.gov]
  • Prognosis Prognosis is guarded in severe cases, sometimes with fatal outcomes. In other cases, stabilization or improvement may be achieved. Progression of ILD is the main prognostic factor.[orpha.net]

Etiology

  • The value of a lung biopsy in AS cannot be overemphasized, as it serves to describe the underlying etiology of the interstitial lung disease, guide therapy, and estimate prognosis.[ncbi.nlm.nih.gov]
  • Etiology The exact mechanisms leading to the disorder are not known. Viral infections are thought to promote formation of antisynthetase antibodies.[orpha.net]
  • Due to the unknown etiology/cause of Antisynthetase Syndrome, there are currently no preventive methods or guidelines available.[dovemed.com]

Epidemiology

  • OBJECTIVE: Given a lack of population-based studies, we report an epidemiological-clinic study of anti-Jo-1 antisynthetase syndrome (ASS). PATIENTS AND METHODS: To study a retrospective cohort of a single-center from 1980 to 2010.[ncbi.nlm.nih.gov]
  • We described characteristics and epidemiology of this disease in Martinique, populated by an African descent population.[acrabstracts.org]
  • Summary Epidemiology Prevalence and annual incidence are not known. AS syndrome represents a subset of polymyositis and dermatomyositis (PM, DM, see these terms), disorders which have estimated prevalence of about 1/4,650.[orpha.net]
  • Matteo Foudation, Pavia, Italy. cavagna@unipv.it. 2 Servicio de Reumatología, Hospital Universitario La Paz, Madrid, Spain. 3 Epidemiology Unit, Italian Society for Rheumatology, Milano, Italy. 4 UOC Reumatologia, Azienda Ospedaliero Universitaria S.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Furthermore, additional research into the pathophysiology of this disease will be necessary to develop newer, more targeted therapeutics.[ncbi.nlm.nih.gov]
  • The pathophysiology of antisynthetase syndrome is not entirely understood, but genetic predisposition, viral infections and medication use may play a role.[ncbi.nlm.nih.gov]
  • Arthritis Rheum, 1983 , vol. 26 (pg. 604 - 11 ) 8 Autoantibodies in idiopathic inflammatory myopathy: an update on clinical and pathophysiological significance, Curr Opin Rheumatol, 2007 , vol. 19 (pg. 523 - 9 ) 9 Clinical manifestations in patients with[doi.org]
  • Ran Nakashima and Tsuneyo Mimori, Clinical and pathophysiological significance of myositis-specific and myositis-associated autoantibodies, International Journal of Clinical Rheumatology, 10.2217/ijr.10.48, 5, 5, (523-536), (2010). Gregory E.[doi.org]

Prevention

  • ILD has been associated with poor outcomes, but in general the heterogeneity of ASS prevents identification of robust prognosis indicators.[ncbi.nlm.nih.gov]
  • Due to the unknown etiology/cause of Antisynthetase Syndrome, there are currently no preventive methods or guidelines available.[dovemed.com]
  • Prevention of infection with Bactrim (an antibiotic) in periods may be relevant.[bindevevssykdommer.no]
  • Other immunosuppressive medications may be used, such as: Azathioprine Methotrexate Cyclophosphamide Tacrolimus Ciclosporin Mycophenolate Rituximab Physical therapy and rehabilitation should start early to prevent muscle deconditioning and to improve[dermnetnz.org]
  • Thus, early clinical diagnosis and timely aggressive immunosuppressive therapy is essential to prevent the development of severe respiratory failure and pulmonary hypertension in these patients (3, 7–9).[medicaljournals.se]

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