Familial lupus and antiphospholipid syndrome

Area of Science:

• Immunogenetics
• Autoimmunity
• Rheumatology

Background:

• Familial clustering of systemic lupus erythematosus (SLE) suggests a genetic component.
• Identifying susceptibility genes is key to understanding disease predisposition.
• Associated autoimmune conditions like antiphospholipid syndrome (APS) and autoimmune thyroiditis are common in SLE families.

Purpose of the Study:

• To review the genetic basis of familial SLE.
• To explore immunologic defects, particularly complement deficiencies, in early-onset familial SLE.
• To discuss the genetic underpinnings and inheritance patterns of familial antiphospholipid syndrome (APS).

Main Methods:

• Literature review of genetic association studies in SLE.
• Analysis of familial case reports and genetic linkage studies for SLE and APS.
• Review of immunologic workup in pediatric and familial autoimmune cases.

Main Results:

• Candidate genes for SLE have been identified in various ethnic groups, with some linked to specific manifestations.
• Complement deficiencies and other immune defects are important considerations in childhood-onset familial SLE.
• Familial APS, while rare, can present with autosomal dominant inheritance, often alongside other thrombophilic defects, but specific gene associations remain elusive.

Conclusions:

• Genetic factors play a significant role in familial SLE and associated autoimmune conditions.
• Further research into multiplex families is needed to identify genes associated with APS.
• Comprehensive evaluation for thrombotic disease is recommended when APS occurs in multiple family members.