Schonenberg-Meinema, D.

English

In this thesis new disease biomarkers for chronic autoimmune diseases (‘connective tissue diseases’ (CTD)) such as childhood-onset Systemic Lupus Erythematosus (cSLE), Mixed Connective Tissue Disease (MCTD) and Localized Scleroderma (LS) are discussed. Although much progress has been made in the early diagnosis and treatment of these diseases in the last decades, still more biomarkers are needed that stratify patients better for (prognostic) disease severity. This will lead to improvement in personalized treatment choices, which will lower the risk for irreversible damage and improve their quality of life, while living with a chronic disease.The first part shows that observations from nailfold capillaroscopy seem to be useful as prognostic biomarker. The smallest blood vessels of the body (capillaries) can be visualized with this feasible and painless imaging device. In multiple studies was found that cSLE patients show many pre-defined abnormalities compared to age-matched controls. Capillary abnormalities were correlated with disease activity and a new subtype of capillary bleeding (‘pericapillary extravasations’) was described that might reflect endothelial damage in cSLE. It was also shown that a ‘capillary scleroderma pattern’ can be detected in 15% of cSLE patients without Raynaud or scleroderma/overlap disease. A longitudinal study showed that the majority of capillary patterns in cSLE are abnormal and they can change over time. The detection of a capillary scleroderma pattern in cSLE was associated with higher risk for specific SLE-related damage, and this was irrespective of disease activity. The second part of this describes novel methods such as interferon analyses in cSLE patients (showing stratifying ‘signatures’) and non-invasive imaging techniques (durometer, high-frequency ultrasound and laser speckle contrast analysis) in children with localized scleroderma (LS) showing good quantitatively measurements of inflammation in the skin

International Migration, Integration and Social Cohesion online publications

Pediatric connective tissue diseases:Looking through the skin and beyond

https://pure.uva.nl/ws/files/96570867/Thesis.pdf

Pediatric connective tissue diseases:Looking through the skin and beyond

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International Migration, Integration and Social Cohesion online publications