Objectives To develop an Outcome Measures in Rheumatology (OMERACT) ultrasonography score for monitoring disease activity in giant cell arteritis (GCA) and evaluate its metric properties. Methods The OMERACT Instrument Selection Algorithm was followed. Forty-nine members of the OMERACT ultrasonography large vessel vasculitis working group were invited to seven Delphi rounds. An online reliability exercise was conducted using images of bilateral common temporal arteries, parietal and frontal branches as well as axillary arteries from 16 patients with GCA and 7 controls. Sensitivity to change and convergent construct validity were tested using data from a prospective cohort of patients with new GCA in which ultrasound-based intima–media thickness (IMT) measurements were conducted at weeks 1, 3, 6, 12 and 24. Results Agreement was obtained (92.7%) for the OMERACT GCA Ultrasonography Score (OGUS), calculated as follows: sum of IMT measured in every segment divided by the rounded cut-off values of IMTs in each segment. The resulting value is then divided by the number of segments available. Thirty-five members conducted the reliability exercise, the interrater intraclass correlation coefficient (ICC) for the OGUS was 0.72–0.84 and the median intrareader ICC was 0.91. The prospective cohort consisted of 52 patients. Sensitivity to change between baseline and each follow-up visit up to week 24 yielded standardised mean differences from −1.19 to −2.16, corresponding to large and very large magnitudes of change, respectively. OGUS correlated moderately with erythrocyte sedimentation rate, C reactive protein and Birmingham Vasculitis Activity Score (corr_coeff 0.37–0.48). Conclusion We developed a provisional OGUS for potential use in clinical trials.

Purpose of Review: To discuss and summarize the latest evidence on imaging techniques in giant cell arteritis (GCA) and Takayasu arteritis (TAK). This is a report on the performance of ultrasound (US), magnetic resonance imaging (MRI), computed tomography (CT), 18F-fluorodeoxyglucose positron emission tomography (18-FDG-PET), and other emerging imaging techniques in diagnosis, outcome prediction, and monitoring of disease activity. Recent Findings: Imaging techniques have gained an important role for diagnosis of large vessel vasculitides (LVV). As signs of vasculitis, US, MRI, and CT show a homogeneous arterial wall thickening, which is mostly concentric. PET displays increased FDG uptake in inflamed artery walls. US is recommended as the initial imaging modality in GCA. MRI and PET/CT may also detect vasculitis of temporal arteries. For TAK, MRI is recommended as the first imaging modality as it provides a good overview without radiation. Extracranial LVV can be confirmed by all four modalities. In addition, MRI and PET/CT provide consistent examination of the aorta and its branches. New techniques such as contrast-enhanced ultrasound, PET/MRI, and auxiliary methods such as “computer-assisted quantitative analysis” have emerged and need to be further validated. Summary: Imaging has partly replaced histology for confirming LVV. Provided experience and adequate training, US, MRI, CT, or PET provide excellent diagnostic accuracy. Imaging results need to complement history and clinical examination. Ongoing studies are evaluating the role of imaging for monitoring and outcome measurement.

Objective.: To test the reliability of Outcome Measures in Rheumatology Clinical Trials (OMERACT) consensus-based ultrasound definitions for normal and vasculitic temporal and axillary arteries in patients with giant cell arteritis (GCA) and in controls.Methods.: A preliminary 1-day meeting and a full 3-day meeting fulfilling OMERACT Ultrasound Group guidelines were held. Temporal and axillary arteries were examined at 2 timepoints by 12 sonographers on 4 patients with GCA and 2 controls. The aim was to test inter- and intrareader reliability for normal findings, halo sign, and compression sign. In both meetings, patients had established GCA. Pathology was more recent in the full meeting, which was preceded by 6 h of training. Scanning time was 15–20 min instead of 10–13 min.Results.: In the preliminary exercise, interreader reliabilities were fair to moderate for the overall diagnosis of GCA (Light κ 0.29–0.51), and poor to fair for identifying vasculitis in the respective anatomical segments (Light κ 0.02–0.46). Intrareader reliabilities were moderate (Cohen κ 0.32–0.64). In the main exercise, interreader reliability was good to excellent (Light κ 0.76–0.86) for the overall diagnosis of GCA, and moderate to good (Light κ 0.46–0.71) for identifying vasculitis in the respective anatomical segments. Intrareader reliability was excellent for diagnosis of GCA (Cohen κ 0.91) and good (Cohen κ 0.71–0.80) for the anatomical segments.Conclusion.: OMERACT-derived definitions of halo and compression signs of temporal and axillary arteries are reliable in recent-onset GCA if experienced sonographers (> 300 examinations) have 15–20 min for a standardized examination with prior training and apply > 15 MHz probes.

Individuals with ultrarare disorders pose a structural challenge for healthcare systems since expert clinical knowledge is required to establish diagnoses. In TRANSLATE NAMSE, a 3-year prospective study, we evaluated a novel diagnostic concept based on multidisciplinary expertise in Germany. Here we present the systematic investigation of the phenotypic and molecular genetic data of 1,577 patients who had undergone exome sequencing and were partially analyzed with next-generation phenotyping approaches. Molecular genetic diagnoses were established in 32% of the patients totaling 370 distinct molecular genetic causes, most with prevalence below 1:50,000. During the diagnostic process, 34 novel and 23 candidate genotype–phenotype associations were identified, mainly in individuals with neurodevelopmental disorders. Sequencing data of the subcohort that consented to computer-assisted analysis of their facial images with GestaltMatcher could be prioritized more efficiently compared with approaches based solely on clinical features and molecular scores. Our study demonstrates the synergy of using next-generation sequencing and phenotyping for diagnosing ultrarare diseases in routine healthcare and discovering novel etiologies by multidisciplinary teams.

Rheumatology 2017;56:1479–1483. doi: 10.1093/rheumatology/kex143 An error in table 1 of this paper has now been corrected. The cut-off value for the axillary artery should be 1.0 mm on right side, left side and both sides. This has now been corrected both online and in print.