Unmet Needs: Prediction and early detection in SpA first-degree relatives Save

Why do diseases manifest in some family members but not in others? Antibodies can be found in patients who do not meet criteria for treatment, especially in first-degree relatives. Are these antibodies a predecessor for disease or merely a genetic marker without meaning? There remains dissention for how we need to monitor and care for these patients.

With novel treatments and early recognition of disease at the forefront this year, it is natural that rheumatologists are thinking more “globally” in regards to early risk factors and even “pre-disease” states in this population. These concepts were explored during the wonderful “Year In Review” lecture by Dr. Ingrid Lundberg, MD, PhD and 2016 Master of the ACR. She beautifully highlighted the Turina, et al pre-SpA prospective inception co-hort study from the Netherlands.  This study evaluated first degree relatives of known AS patients in order to determine pre-disease states in regards to imaging, laboratory, and clinical testing.

Fifty-one first-degree relatives were reported in the study. Thirty (59%) reported back pain, 9 (18%) with inflammatory back pain features and 3 (6%) with low grade sacroiliitis on X-ray, 11 (22%) with bone marrow edema of the SIJ on MRI, and 1(2%) with cervical syndesmophytes on X-ray. Interestingly, none of these patients reported peripheral arthritis or enthesitis though 39% reported arthralgias in the past and 16% had a tender joint count of 1 or greater. A total of 13 patients met criteria for disease. Nine patients (18%) fulfilled axSpA criteria, 10 fulfilled ESSG criteria and 6 fulfilled both ESSG and ASAS axSpA criteria. These patients reported more frequent back pain, inflammatory back pain features, and a higher BASDAI with worse function on BASFI scores, however no differences in inflammatory parameters, HLA B27 status, peripherial and extra-articular manifestions of disease were noted. Of note, 6 of the remaining 38 patients who did not meet criteria for disease had imaging abnormalities suggestive of SpA, 5 with MRI changes and 1 with XR changes.

This study highlights the need for potential changes in our perception in monitoring, and possibly even initiation of earlier treatment, in our high risk patients.

Citation: Ann Rheum Dis 2015;74:759 doi:10.1136/annrheumdis-2015-eular.4150