Anne Peretz

Seronegative polyarthritis revealing antisynthetase syndrome: a multicentre study of 40 patients

OBJECTIVE The aim of this study was to determine the frequency and characteristics of antisynthetase syndrome (ASS) revealed by polyarthritis. METHODS First we conducted a retrospective single-centre study to assess the frequency of ASS patients who presented with polyarthritis without pulmonary and/or muscle symptoms. Secondly, we conducted a larger, multicentre study in order to describe the clinical characteristics of these patients. Exclusion criteria were the presence of RF, the presence of ACPA and overlap with another CTD. RESULTS In the single-centre study, polyarthritis was the first manifestation in 12 of 45 ASS patients (27%). An additional 28 patients were collected for the multicentre study, resulting in a total population of 40 ASS patients who presented with polyarthritis. The mean delay from polyarthritis onset to ASS diagnosis was 27 months (s.d. 40). Pulmonary and muscle symptoms were uncommon at ASS diagnosis (40% and 32.5%, respectively) and were dramatically delayed [mean delay after polyarthritis onset of 41 months (s.d. 53) and 21 months (s.d. 14), respectively]. Mechanics hands and cutaneous signs of DM occurred in 25% and 22.5%, respectively, with a mean delay of 10 months (s.d. 10) and 31 months (s.d. 21), respectively. When present (32%), RP was the earliest non-articular manifestation [mean delay 3 months (s.d. 23) after polyarthritis onset]. On HEp-2 cells, antinuclear and/or cytoplasmic fluorescence was found in 70% of cases, with specificity for various anti-aminoacyl tRNA synthetase (anti-ARS) antibodies. CONCLUSION ASS may be revealed by polyarthritis. To decrease the delay in diagnosis of ASS, pulmonary and muscle symptoms and anti-ARS antibodies might usefully be searched for in seronegative polyarthritis patients, especially in those with RP.

Ochronosis: A case report with severe ochronotic arthropathy

SummaryAlkaptonuria is a rare inborn metabolic disorder in which ochronotic pigment is deposited in connective tissue and cartilage. Ochronotic arthropathy is the consequence of longstanding alkaptonuria and leads to progressive joint disability. We report a case of a 67-year old man with severe ochronotic arthropathy involving the spine, the knees, the shoulders and the hips.

Chronic active hepatitis with high level of anti-ds-DNA detected by a solid phase radioimmunoassay

SummaryA case of chronic active hepatitis with arthralgia in a 72-year-old woman was diagnosed on the basis of biological and histological findings. High levels of anti-ds-DNA usually considered specific for systemic lupus erythematosus were detected by a very sensitive solid-phase radioimmunoassay.

Isolated anti-Ku antibody in scleroderma-myositis overlap syndrome: the histo-pathological patern

An 18-years old African girl, suffered for almost 4 years of polyarthralgia, joint contractures and a hardcover appearance of the skin suggestive of scleroderma. The clinical picture and a high level of CPK suggested Polymyositis (PM). Search for anti nuclear Antibody (ANA) showed speckled pattern at 1/2500 titre, and subscreening revealed isolated anti-Ku antibody. This was more often reported in association with PM - SSc overlap syndrome. Skin biopsy favored linear scleroderma. Interestingly, muscle biopsy showed features typical of dermatomyositis (DM). No endocrine disorder or underlying mitotic process was registered. Corticosteroid therapy was initiated followed by maintenance therapy with methotrexate; the outcome was favorable. This case illustrates the interest of anti-Ku screening in the diagnostic work-up. Our observation thus emphasizes the possible occurrence of isolated anti-Ku antibody expression in an overlap syndrome comprising SSc-DM association. Such association/linkage (implicating DM rather than PM) is, to our knowledge, very rarely well reported. Moreover, the therapeutic response seems favorable in such condition. We found one biopsy-confirmed observation of SSc-Inflammatory myositis (IM) overlap syndrome in an anti-Ku positive patient [1,2]. This later case was initially reported as SSc-PM overlap syndrome. Interestingly, follow-up showed evolution towards typical features of DM, and hence an overlap syndrome of SSc-DM association. Thus, our observation highlights the necessity/interest of biopsy to ascertain the precise nature of myositis in an overlap syndrome associating SSc and Myositis Clinico-pathological criteria in inflammatory myositis have been reviewed by Cherin P et al., [3]. Anti-ku Ab is knowingly reported in a context of myositis. Thus our observation and review of the literature suggest that in the presence of isolated anti-Ku Ab in a SSc-Myositis overlap context, muscle biopsy (that should be done) would tend to show DM (rather than PM) in association with the SSc. Such a finding may change the prognosis and the treatment approach of this syndrome. This can only be demonstrated after elaborate muscle biopsy in overlap syndromes, with or without the presence of anti-Ku antibodies.