Imaging of the knee in juvenile idiopathic arthritis.

In juvenile idiopathic arthritis (JIA), imaging is increasingly used in clinical practice. In this paper we discuss imaging of the knee, the clinically most commonly affected joint in JIA. In the last decade, a number of important steps have been made in the development of imaging outcome measures in children with JIA knee involvement. Ultrasound is undergoing a fast validation process, which should be accomplished within the next few years. The validation processes of MRI as an imaging biomarker for clinical trials in the JIA knee are at an advanced stage, with important data available on the feasibility, reliability and validity of the Juvenile Arthritis MRI Scoring system. Moreover, both US and MRI data are emerging on the normal appearance of the growing knee joint.

Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency.

OBJECTIVE: Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease. METHODS: We performed an international survey, of clinicians treating C1q deficient patients. A high response rate of >70% of the contacted clinicians yielded information on 45 patients with C1q deficiency of which 25 are published. RESULTS: Follow-up data of 45 patients from 31 families was obtained for a median of 11 years after diagnosis. Of these patients 36 (80%) suffer from SLE, of which 16 suffer from SLE and infections, 5 (11%) suffer from infections only and 4 (9%) have no symptoms. In total 9 (20%) of the C1q deficient individuals had died. All except for one died before the age of 20 years. Estimated survival times suggest 20% case-fatality before the age of 20, and at least 50% of patients are expected to reach their middle ages. CONCLUSION: Here we report the largest phenotypic data set on C1q deficiency to date, revealing high variance; with high mortality but also a subset of patients with an excellent prognosis. Management of C1q deficiency requires a personalized approach.

Two-year outcome of juvenile idiopathic arthritis in current daily practice: what can we tell our patients?

OBJECTIVES: This paper aims to evaluate disease course and outcome of patients in the first 2 years after diagnosis of juvenile idiopathic arthritis (JIA) when treated according to local standard of clinical care, focusing on achievement of inactive disease, functional ability and radiological joint damage. METHODS: A retrospective inception cohort study of children with JIA, diagnosed between January 2003 and June 2007 and treated in referral centres in Amsterdam, was carried out. Disease status was determined for every outpatient-clinic visit. Data regarding medication, functional outcome and radiography were recorded. RESULTS: One hundred and forty-nine consecutive newly diagnosed JIA patients were included. Median age at diagnosis was 11.8 years; median follow-up was 33 months. Synthetic DMARDs (sDMARDs) were used by 95% of patients, including methotrexate in 85%, sulfasalazine in 41% and biologics in 20%. sDMARDs were started within median 1 month after diagnosis. During follow-up, 77% of patients achieved a total of 244 episodes of inactive disease (ID). ID was reached after median 10 months. No baseline predictive factors for achievement of ID could be identified. After 2 years a median CHAQ score of 0.6 was reported. Radiological joint damage occurred at some point in 18 patients (12%); 10 of these patients developed erosions within median 20 months after their first clinic visit. CONCLUSIONS: With current management strategies in daily clinical practice, 77% of newly diagnosed JIA patients achieved a first episode of inactive disease within a median of 10 months. After 2 years, patients reported moderate functional disability and more than 10% showed radiological evidence of joint damage.