José L. Riestra

HLA-C locus alleles may modulate the clinical expression of psoriatic arthritis.

The aim of the present study was to evaluate the relative contribution of human leukocyte antigen (HLA)-C locus alleles in determining the risk and the clinical expression of psoriatic arthritis (PsA). One hundred PsA patients were randomly selected and grouped into three disease subsets: oligoarthritis (n = 40), polyarthritis (n = 25) and spondylitis (n = 35). The HLA-C locus profile of this cohort was studied by methods based on molecular biology and was compared with that of 45 patients with psoriasis vulgaris and 177 healthy blood donors from the same ethnic origin. HLA-Cw*0602 was found associated with both psoriasis (odds ratio (OR) 6.2; 95% confidence interval (CI) 3.1 to 12.5; p < 0.0001) and PsA (OR 6.2; 95% CI 3.6 to 10.8; p < 0.0001); however, this allele was equally found among the PsA subsets. HLA-Cw6-positive patients showed a longer psoriasis-arthritis latency period (p = 0.012). HLA-Cw*0701 was found under-represented in PsA in comparison with controls (OR 0.5; 95% CI 0.3 to 0.9; p = 0.04), as was HLA-Cw*0802 (OR 0.3; 95% CI 0.08 to 1; p = 0.05). A positive association was found between psoriatic spondylitis and HLA-Cw*0702 (OR 5.0; 95% CI 1.4 to 25; p = 0.01). HLA-Cw*0602 seems to confer a general risk for psoriasis, but the presence of other HLA-C locus alleles may explain an additional arthritogenic risk. HLA-C alleles may modulate some aspects of the clinical expression of PsA, but these findings need confirmation.

Clinical expression, but not disease outcome, may vary according to age at disease onset in psoriatic spondylitis.

OBJECTIVES To investigate whether the clinical expression and disease outcome in psoriatic spondylitis (PsS) may vary according to age at disease onset. METHODS This study included 70 patients from a unique outpatient spondylitis clinic followed on a regular basis with a standard protocol. Patients were diagnosed with PsS according to ESSG criteria plus radiographic sacroiliitis (SI). Outcome parameters included: disease activity, functional evaluation, radiological damage, mobility restriction, and enthesitis score. Patients were divided into those with disease onset before 40 years (young-onset PsS) and those with onset over this age (late-onset PsS). Clinical features and outcome parameters were compared between groups. RESULTS There were 44 men and 26 women. Thirty-nine (M:F ratio 1.8) patients had disease onset before 40 years and 31 (M:F ratio 1.6) over this age. HLA-B27 correlated with PsS susceptibility (34% vs 7%, RR 6.4, p<0.0004), but it was found over-represented in young-onset PsS compared to late-onset cases (51% vs 13%, p=0.001). Young-onset cases tended to have a higher frequency of family history (26% vs 13%), bilateral SI (62% vs 29%, p=0.013), isolated axial pattern (31% vs 13%), and enthesitis (54% vs 29%, p=0.09). In late-onset PsS there was a higher frequency of unilateral SI (71% vs 38%, p=0.013), polyarthritis (45% vs 23%, p=0.022), and silent axial disease (32% vs 10%, p=0.022). Outcome parameters were similar between groups. CONCLUSIONS Clinical picture but not outcome parameters, varies according to age at disease onset in PsS. The correlation between HLA-B27 and young-onset PsS supports the notion that disease susceptibility and disease expression are not driven by the same gene in this entity.

Entheseal ultrasound abnormalities in patients with SAPHO syndrome

This study was conducted to investigate the presence and characteristics of the ultrasound lesions that may be found in the entheses of patients with SAPHO (synovitis, acne, pustulosis, hyperostosis, osteitis) syndrome. This cross-sectional study included 15 patients with SAPHO syndrome and 30 healthy controls matched for age, sex and body mass index. Subjects with regular sport activities as well as those with other rheumatic conditions were excluded from the study. Ultrasonography was used in both groups to study 14 entheses of the upper and lower extremities. Different elementary lesions representative of enthesis damage were defined. A total of 210 entheses in the study group and 420 in the control group were evaluated. Only one patient presented clinical enthesitis. In the study group, seven of the 15 patients (47%) showed morpho-structural entheseal alterations, versus only four of the 30 controls (13.3%; p < 0.001). The subjects with SAPHO showed ultrasound alterations in 32/210 entheses (15%), while the controls showed alterations in 20/420 entheses (4.8%), p < 0.001. The entheses with the largest number of morpho-structural alterations were those of the patellar and Achilles tendon. None of the controls showed power Doppler signal at enthesis or perienthesis level. Ultrasound evidence of enthesopathy seems to be a common feature in this series of patients with SAPHO syndrome.

C4 deficiency state in antiphospholipid antibody-related recurrent preeclampsia evolving into systemic lupus erythematosus

Abstract. The case of an apparent healthy woman who developed recurrent preeclampsia with antiphospholipid antibodies and evolved towards systemic lupus erythematosus during her last pregnancy is presented. The diagnostic dilemma between lupus renal flare and toxemia is discussed. The potential role of immunological alterations, such as complement genetic deficiencies, in women with primary antiphospholipid syndrome who develop systemic lupus erythematosus is also discussed.