Ioan Teodor Dragoi(1,2), Alexandra Maria Burlui(1,2,*), Elena Rezuș(1,2)
1)Department of Rheumatology and Physioterapy, “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania
2)Rheumatology Clinic, Clinical Rehabilitation Hospital, Iasi, Romania
Background. Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with complex and multifactorial etiology. While most cases are sporadic, familial clustering is increasingly recognized, particularly in early-onset forms. Childhood-onset SLE (cSLE) is associated with more severe disease and a higher genetic burden.
Case Presentation. We report two cases of SLE involving a father and his daughter. The father presented in adulthood with antiphospholipid syndrome and pulmonary hypertension as initial manifestations, fulfilling the 2012 SLICC criteria for SLE. Over the course of his illness, he experienced multiple thromboembolic events requiring escalation of immunosuppressive and anticoagulant therapy. Seven years later, his daughter developed photosensitive skin eruptions beginning at the age of three, evolving into a full clinical picture of SLE by age eight, when she fulfilled the 2019 ACR/EULAR criteria. Immunologic investigations in both cases revealed distinct autoantibody profiles, highlighting phenotypic variability even within the same family.
Conclusion. Familial SLE, though relatively uncommon, provides valuable insights into the genetic and immunologic mechanisms underlying disease onset and progression. Early recognition and individualized management strategies are essential, particularly in pediatric populations and families with known autoimmune aggregation.
Keywords: systemic lupus erythematosus, antiphospholipid syndrome, childhood-onset lupus, pulmonary thromboembolism
Corresponding author(s): Alexandra Maria Burlui, Department of Rheumatology and Physioterapy, “Grigore T. Popa” University of Medicine and Pharmacy, Iasi, Romania; email: alexandra.burlui@gmail.com