FRI0398 Inflammatory myopathies with camptocormia or dropped head syndrome are associated scleromyositis with late onset and delayed diagnosis

Abstract

BackgroundSevere weakness of axial muscle leads to dropped head syndrome or camptocormia. The signification of these symptoms has not been studied in inflammatory myopathies (IM).ObjectivesTo assess the signification of dropped head syndrome and/or camptocormia in patients with IM.MethodsAll practitioners of the French Myositis Network and the Club Rhumatisme et Inflammation (>1000 physicians) were invited to report their patients suffering from IM (myopathy with myositis specific autoantibody and/or typical muscle biopsy according to the ENMC criteria) with camptocormia and/or dropped head syndrome. These axial IM cases were included only if no other explanation of axial weakness was found. IM patients without axial involvement (non-axial IM group), were randomly selected from the participative centers, and included as control patients (ratio 1:2). Clinical, serological, muscle pathological features, management and outcomes were studied using a standardized form.ResultsTwenty patients (sex ratio 2.6) with axial involvement (camptocormia: 60%, dropped head syndrome: 40%) were included. Compared with the control group, these axial IM-patients were older (64.05±11.64 y. vs. 48.22±18.28. p<0.005) and diagnosis of IM was delayed (16.4±4.5 months vs. 8.5±2.7, p<0.05).All patient except one had also proximal weakness of the limbs. CK blood level was 2794±870 UI/L, which was similar to the controls (2864±559 UI/L). According to the ENMC classification, non-specific myositis was the most frequent finding on muscle biopsy (n=5/15, 30% vs. n=1/24, 4% in the non-axial group, p<0.05) and dermatomyositis (DM) pattern tended to be less frequent in axial-IM patients (3/12 20% vs. 11/24, 46%, p=0.10).Most of the patients (75%) had also extra muscular involvement including acrosyndrome (45%), interstitial lung disease (35%), sclerodactyly (30%), telangiectasia (25%), digital tip ulcer (10%), sclerodermy (5%). By contrast, no patient had polyarthrithis (vs. 20% in the controls, p<0.05). DM rash was hardly threefold less frequent in axial IM patients (15% vs. 42%, p<0.05).Auto-antibodies associated with scleromyositis were the most frequent in axial-IM patients (30% vs. 10.3%, p=007, manly anti-PM/Scl). One patient (5%) had cancer within the 3 years before or after IM diagnosis (NS vs. controls).Thus, most frequent diagnosis in axial IM-patients were scleromyositis (35% vs. 5% in the controls, p<0.05) and inclusion body myositis (20% vs. 2.6% in the controls, p<0.05). DM was twofold less frequent than in control (10% vs 41%, p<0.05). Other IM subtypes were not statistically different from the control groups.Except patients with diagnosis of sIBM, all axial IM-patients received corticosteroids with another immunomodulatory drugs (median number 2, range 1–5). Half of the axial-IM patients received intravenous immunoglobulin. After a mean follow up of 68.4±3.76 months all patients had improvement, including in axial weakness, except in patients with sIBM. One patient died from ischemic cardiomyopathy.ConclusionsIn IM, camptocormia and ...

Diagnostic delay of myositis: an integrated systematic review

“…The 27 studies included in the review consisted of seventeen non-comparative studies (nine descriptive cross-sectional studies [ 9 , 14 , 16 , 17 , 22 , 23 , 29 , 36 , 38 ], seven case reports [ 27 , 28 , 31 – 35 ] and one case series [ 30 ]), six analytical cross-sectional studies [ 15 , 18 – 20 , 24 , 37 ], one time series with comparison group [ 21 ] and three retrospective cohort studies [ 25 , 26 , 41 ]. Studies were from multiple countries, including nine from Europe [ 9 , 15 , 16 , 25 , 27 , 31 , 35 , 37 , 38 ], eight from the United States [ 20 , 21 , 24 , 29 , 30 , 33 , 34 , 41 ], three from Australia [ 19 , 22 , 23 ], one from New Zealand [ 14 ], two from Asia [ 28 , 32 ], and one from South America [ 26 ]. Two studies were multi-national [ 18 , 36 ].…”

“…Nine studies consisting of two retrospective cohort studies [ 21 , 25 ], five cross sectional studies [ 15 , 18 , 20 , 24 , 37 ], and two non-comparative descriptive studies [ 9 , 29 ] reported the most common symptoms of their study samples. The most frequently-reported symptom was muscle weakness, reported in 8/9 studies, particularly proximal muscle weakness [ 9 , 15 , 20 , 21 , 37 ].…”

“…The presence of complex clinical characteristics that were found to contribute to diagnostic delay were reported in relation to ASS (n = 2) [ 26 , 31 ], DM (n = 2) [ 28 , 33 ], IBM (n = 6) [ 19 ], and mixed IIM (n = 1) [ 21 ]. Clinician related factors that contributed to diagnostic delay were identified in relation to IBM (n = 3) [ 25 , 32 , 37 ], JDM (n = 1) [ 9 ], and one study reported a health care service related factor for IIM (n = 2) [ 21 ].…”

“…Nine of the 16 studies reported several misdiagnoses including motor neurone disease [ 16 , 17 , 23 , 30 ], myopathy [ 16 , 17 ], facioscapulohumeral muscular dystrophy [ 17 ], oculopharyngeal muscular dystrophy [ 17 ], peripheral nerve disease [ 17 ], polyneuropathy[ 16 ], entrapment neuropathy [ 30 ], Parkinson’s disease, lupus [ 29 ], undifferentiated connective tissue disease [ 29 , 31 ], arthritis [ 23 ], old age [ 23 ], pneumonia [ 32 ] and bacterial vaginitis [ 33 ]. Six of the 16 studies reported worsening outcomes of disease as symptoms progressed, including extreme weight loss [ 34 ], more organ damage [ 15 ], increased need of assistance in daily living activities [ 27 ], recurrent falls [ 35 ], increased mortality [ 25 ] and increased camptocormia or dropped head syndrome [ 37 ]. Three case reports also referred to incorrect treatments [ 28 , 32 , 33 ] including antibiotics in three cases [ 28 , 32 , 33 ] and occupational therapy in one case [ 34 ].…”

“…Another retrospective study found that delay in diagnosis was significantly associated with mortality in IIM with interstitial lung disease (HR 1.29, 95% CI 1.06–1.56) [ 25 ]. One case control study found delayed or longer IIM diagnosis in camptocormia and dropped head syndrome compared to the control group (without dropped head syndrome) [ 37 ].…”