3 research outputs found
TESTING ANTINUCLEAR ANTIBODIES IN RELATIVES OF PATIENTS WITH SYSTEMIC LUPUS ERITHEMATOSUS
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, which deposit within tissues and fix complement leading to systemic inflammation (1). Is a heterogeneous disease with a continuum of disease activity. Some patients can have predominant skin and joint
involvement, whereas others can present with organ-threatening diseases such as nephritis, cardiac involvement
or even neurologic manifestations. Relatives of patients with SLE appear to be at higher risk of SLE and other
autoimmune diseases, but estimates of individual familial risks are largely unavailable or unreliable (2,3). The
purpose of ANA (antinuclear antibody) determination is generally to screen patients suspected from generalised
autoimmune diseases, that is, systemic lupus erythematosus (SLE), rheumatoid arthritis, Sjögren’ s syndrome,
scleroderma, polymyositis, or mixed connective tissue disease. Clinical and paraclinical studies are needed to
reach a definitive diagnosis
GENERAL CHARACTERISTICS AND FAMILIAL AGGREGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease characterized by the production of autoantibodies, which deposit within tissues and fix complement leading to systemic inflammation (1). Is a heterogeneous disease with a continuum of disease activity. Some patients can have predominant skin and joint involvement,
whereas others can present with organ-threatening diseases such as nephritis, cardiac involvement or even neurologic manifestations. Relatives of patients with SLE appear to be at higher risk of SLE and other autoimmune
diseases, but estimates of individual familial risks are largely unavailable or unreliable (2,3)
EVIDENCE FOR FAMILIAL AGGREGATION IN SIBLINGS WITH AUTOIMMUNE RHEUMATIC DISEASES
Autoimmune rheumatic disorders have a multifactorial determinism, caused by various environmental factors
acting on the individual’s genetic susceptibility, destabilizing the systems which regulate the immune response.
Epidemiological and genetic investigations are very important to demonstrate the contribution of genetic factors
to the development of these autoimmune diseases. The contribution of genetic factors in causing autoimmune
diseases has been demonstrated by familial aggregation. Moreover, it was also quantified by determining heritability, expressing the proportion of genetic factors in the etiology. It is now clear that common genes underlie
multiple autoimmune disorders