1,721,202 research outputs found
A “groovy” diagnosis: Eosinophilic fasciitis
No full textAbstract Clinical examination can be the key to pursuing a diagnosis, even in rare diseases. The “groove sign” is a typical finding in eosinophilic fasciitis and can be elicited by elevation of the arm to allow for venous return with visible “grooving” of the veins due to skin thickening
Myositis
No full textThe S2e guidelines on myositis were completely updated and revised under the leadership of the German Society for Neurology and the participation of many other specialist societies. Immune-mediated necrotizing myopathy and antisynthetase syndrome are now regarded as independent entities in the classification of myositis. With respect to the diagnostics, the guidelines provide concrete recommendations on dysphagia screening, especially for inclusion body myositis and for cancer diagnostics in certain forms of myositis. Following the positive ProDERM study, the use of intravenous immunoglobulins (Octagam®) is available for treatment as an approved substance. Based on the INBUILD study, antifibrotic treatment with nintedanib is available for progressive fibrosing pulmonary involvement. For rheumatologists, the updated guidelines represent a document relevant for daily practice with many recommendations for the treatment of patients with myositis
Improvement of lupus-associated fatigue with modafinil: Report of two cases
No full textFatigue is a frequently reported and disabling symptom in patients with systemic lupus erythematosus (SLE). The management of Lupus-associated fatigue (LAF) is complex and requires the exclusion of disease activity and comorbidities as potentially treatable causes. Standard of care recommendations includes psychological counselling and regular physical activity. However, many SLE patients still report the persistence of LAF despite these measures. Therefore, pharmacological management may be required, which has been insufficiently investigated in clinical trials. Here, we report two patients who improved with pharmacological treatment with modafinil (MODA), a central nervous system stimulant. Both patients had an overall low disease activity (SLEDAI-2K score of 0). Their FACIT fatigue scores were 15 and 20, respectively (with a maximum score of 52, where 52 indicates the best quality of life). With MODA treatment, the first patient’s FACIT fatigue score improved from 15 to 42, the second patient’s score from 20 to 37. In the latter patient, it returned to 21 after stopping the drug and increased back again to 37 after re-treatment. In conclusion, our report demonstrates, for the first time, that MODA treatment is a potential pharmacological treatment option in selected patients with LAF. Clinical trials in SLE are required to confirm our observations
Interstitial nephritis in rheumatic diseases
No full textInterstitial nephritis is responsible for about 12% of end-stage renal disease in Germany. It comprises an etiologically heterogenous group of inflammatory renal disorders which primarily affect the renal interstitium and tubuli. Drugs, predominantly antibiotics, nonsteroidal anti-inflammatory drugs and proton pump inhibitors are causative in the majority of cases. Rheumatic diseases frequently affect the kidneys, either the glomeruli or the interstitial tissues. Inflammatory interstitial processes can be accompanied by complex functional tubular disorders. This review gives an overview about clinical and laboratory findings of interstitial nephritis in the context of rheumatic diseases. Sarcoidosis, tubulointerstitial nephritis and uveitis (TINU) syndrome, primary Sjogren's syndrome, and IgG4-related disease often show an interstitial nephritis when the kidneys are affected. Other diseases, such as systemic lupus erythematosus, systemic sclerosis, drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome, and granulomatosis with polyangiitis are more rarely associated with predominant interstitial nephritis. Glucocorticoids are the mainstay of therapy for most cases; in refractory cases or when side effects occur, second-line immunosuppressants such as mycophenolate mofetil, azathioprine and others, rarely biologics, can be used
Type 2A von Willebrand disease and systemic sclerosis: Vonicog alfa reduced gastrointestinal bleeding
No full textVon Willebrand disease (VWD) is a bleeding disorder caused by qualitative or quantitative defects of von Willebrand factor (VWF). This case report of a patient with systemic sclerosis and gastrointestinal bleeding from angiodysplasias seeks to address the key clinical question of a useful diagnostic and therapeutic approach in this setting. The extent of vascular malformations and the frequency of bleeding episodes were unusually severe, and we reached a diagnosis of inherited type 2A VWD. After an insufficient effect of treatment with factor VIII (FVIII)/VWF, prophylactic administration of vonicog alfa, a recombinant VWF preparation without FVIII, was initiated. This therapy led to a substantial reduction of transfusion requirements and the improvement of angiodysplasias. In refractory gastrointestinal bleeding, hemostaseological evaluation is crucial, as inherited disorders of hemostasis may go unnoticed, especially in patients with underlying autoimmune diseases, where complications may be ascribed to the underlying disease.Open-Access-Publikationsfonds 202
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