ABSTRACT
Despite the low prevalence of each rare disease, the total burden is high. Patients with rare diseases encounter numerous barriers, including delayed diagnosis and limited access to high-quality treatments. In order to tackle these challenges, the European Commission launched the European Reference Networks (ERNs), cross-border networks of healthcare providers and patients representatives. In parallel, the aims and structure of these ERNs were translated at the federal and regional levels, resulting in the creation of the Flemish Network of Rare Diseases. In line with the mission of the ERNs and to ensure equal access to care, we describe as first patient pathways for systemic sclerosis (SSc), as a pilot model for other rare connective and musculoskeletal diseases. Consensus was reached on following key messages: 1. Patients with SSc should have multidisciplinary clinical and investigational evaluations in a tertiary reference expert centre at baseline, and subsequently every three to 5 years. Intermediately, a yearly clinical evaluation should be provided in the reference centre, whilst SSc technical evaluations are permissionably executed in a centre that follows SSc-specific clinical practice guidelines. In between, monitoring can take place in secondary care units, under the condition that qualitative examinations and care including interactive multidisciplinary consultations can be provided. 2. Patients with early diffuse cutaneous SSc, (progressive) interstitial lung disease and/or pulmonary arterial hypertension should undergo regular evaluations in specialised tertiary care reference institutions. 3. Monitoring of patients with progressive interstitial lung disease and/or pulmonary (arterial) hypertension will be done in agreement with experts of ERN LUNG.
Subject(s)
Connective Tissue Diseases , Lung Diseases, Interstitial , Scleroderma, Diffuse , Scleroderma, Systemic , Humans , Rare Diseases/complications , Rare Diseases/epidemiology , Rare Diseases/therapy , Scleroderma, Systemic/diagnosis , Scleroderma, Systemic/therapy , Connective Tissue Diseases/diagnosis , Connective Tissue Diseases/complications , Lung Diseases, Interstitial/diagnosis , Lung Diseases, Interstitial/therapy , Lung Diseases, Interstitial/complicationsABSTRACT
The occurrence of antinuclear antibodies (ANA) in the serum of 485 healthy volunteer blood donors was assessed. Sixty two sera displayed nuclear immunofluorescence staining on Hep-2 cells using a polyvalent anti-Ig conjugate. In general, the titer of these antibodies was low (42/62 sera displaying a titer lower than or equal to 1:80). In only 23 sera were the ANA of the IgG isotype, which is the more disease-related immunoglobulin class of autoantibodies. In order to define the frequency of antibodies to extractable nuclear antigens and dsDNA within this population, sera were further analyzed by counterimmunoelectrophoresis. Western blot and the Crithidia luciliae assay. One serum displayed weak antids DNA reactivity; another serum had anti-SSA/Ro activity. On Western blot several patterns were found. They could not be identified with any of the available reference antisera.
