Systemic scleroderma in Greece: low mortality and strong linkage with HLA-DRB1(star)1104 allele

Objective-Description of Greek patients with scleroderma with reference to (a) major organ disease, (b) autoantibodies, (c) survival rate, and (d) HLA associations. Methods-The clinical files of 254 patients were analysed retrospectively an d a standardised clinical chart was completed with age at disease onset, se x, date of first and last visit, clinical and serological findings, organs affected, reasons for death, and HLA class II alleles. HLA class II alleles (DRB1, DQA1, DQB1, DPB1) were determined by polymerase chain reaction ampl ification using oligopeptide probes. DNA was extracted from 98 patients and 130 Greek controls. Results-124 patients (49%) had limited systemic sclerosis (ISSc), 114 (45%) had diffuse systemic sclerosis (dSSc), and 16 (6%) had overlap syndromes. Patients with dSSc, compared with ISSc, were characterised by a higher prev alence of lung disease (p=0.0011), oesophageal, heart, and peripheral vesse l disease (p=0.027, p=0.0025, and p=0.012, respectively). Anticentromere an tibodies (ACA) occurred exclusively in 1SSc (34%), whereas antibodies to to poisomerase I (anti-topo I) were associated with dSSc (p<0.0001). Anti-topo I were associated with interstitial pulmonary fibrosis, oesophageal and pe ripheral vessel disease (p=0.028, p=0.012, and p=0.01, respectively). The H LA-DRB1*1104 allele was associated with the disease (p<0.0001) and anti-top o I (p<0.001), whereas it was not associated with ACA serum reactivity (p<0 .001). Renal disease occurred in 4% of patients with SSc. The estimated sur vival probability for this cohort of patients with SSc, four years after th e first visit, is 94.8%. Conclusion-SSc among Greek subjects has the same pattern of organ disease a s in other white populations. However, the prevalence of kidney disease is low. The HLA class II DRB1*1104 allele is associated with the disease, with anti-topo I, and not associated with ACA serum reactivity.