Review : A clinical and serological comparison of familial and non-familial systemic lupus erythematosus in Ireland

Abstract

Seventeen families, in which the diagnosis of SLE could be verified in two relatives, were included in the study. The diagnosis was made according to the revised 1982 ARA criteria. We compared the 34 cases of familial SLE in these 17 families with 34 non-familial SLE controls matched for age, sex, ethnicity and duration of disease. Comparisons were made for the presence of 26 clinical and 11 serological features. The frequency of clinical features was similar between the groups. The frequency of anti-Ro antibody was higher in the non-familial group (15 out of 34 compared to 6 out of 34, P = 0.036, McNemar's test), although this was not significant after application of Bonferoni's correction for the number of comparisons. No cases of familial IgA or familial complement deficiency were identified. It was noted that 10 of the 34 non-familial patients and only one of the familial patients had the combination of anti-Ro antibody and photosensitivity. The findings of this study support the hypothesis that familial SLE and non-familial SLE are the same clinical entity, although there are differences in the subtypes of disease.

Is familial lupus different from sporadic lupus? Data from LUMINA (LXXIII), a multiethnic US cohort

“…Even thought none of the clinical manifestation reached significance, the possible association with cerebrovascular disease and oral contraceptive use is intriguing; however, no differences in the frequency of aPL antibodies or other thrombotic events were observed in patients with familial lupus. Like in our study, an increased/decreased frequency of specific clinical and laboratory features such as photosensitivity, oral ulcers, malar rash, low platelet counts and/or anti-Ro antibodies have been reported in patients with familial lupus but none of these findings have shown to be independently associated with the development of this form of lupus [7–9] supporting the importance of environmental factors in the development of the phenotype. Furthermore, in the Chinese study of Wang et al in which 136 patients with lupus nephritis were studied, 34 of them having familial lupus, fever was the only manifestation independently associated with familial lupus but the severity of lupus nephritis, as assessed histologically, was found to be similar in both patients groups [21].…”

“…Concordance rates are higher for monozygotic (24–56%) than dizygotic twins (2–5%); furthermore, a high degree of concordance in disease expression has been shown in some studies [3–6]. Despite the preponderance of lupus within families, studies conducted so far have failed to show distinctive immunological and clinical features between patients with sporadic and familial lupus [7–9] including studies conducted in populations with a high degree of consanguinity [8;10]. …”

Review: Familial lupus and antiphospholipid syndrome

“…In a series of French Caucasian patients containing 125 multiplex families and 100 SLE patients without any affected relatives, there were no significant differences between the ACR criterion profiles of familial and sporadic SLE patients after correction for multiple testing. 15 Similar results were found in a series of 53 multiplex families in Finland 16 and in a smaller series of Irish patients, 17 with no significant differences in clinical or laboratory findings after Bonferroni correction. Although the frequencies of clinical criteria may vary significantly between familial SLE patients with different ethnic origins, they are generally comparable to literature values for ethnically matched sporadic cases.…”

Familial juvenile systemic lupus erythematosus in Arab children

“…The rates of clotting disorders, seizures, and myocardial infarction were similar between the two groups [11,12]. In spite of the similarities of the clinical and serological manifestations between familial and non-familial SLE in adults SLE [13][14][15], it is not clear whether clinical and laboratory features of the FJSLE differ from those of sporadic cases; however, we found a marked difference in the origin of patients and the age of disease onset between the familial and sporadic SLE groups [16]. This study analyzed the clinical and laboratory features of 50 patients with FJSLE from 18 unrelated families seen in 3 tertiary health care centers in Saudi Arabia and Oman.…”