Familial systemic lupus erythematosus with pleural and articular involvement mimicking tuberculosis: a case report

Systemic lupus erythematosus (SLE), a multisystemic disease with a global prevalence of 20-150/100 000, predominantly affecting women may have a familial clustering, suggesting a strong genetic predisposition and emphasizing the role of heritable factors in disease pathogenesis. In tuberculosis-endemic regions, pleural effusions are frequently misattributed to tuberculosis, leading to delays in the correct diagnosis and appropriate treatment.

A 42-year-old female with a history of continuous chest pain, aggravated on inspiration, intermittent fever with night sweats, chills and rigor, long standing joint pain involving small joints of hand, knee, and elbow with swelling and elbow has a family history of SLE and was started on anti-tuberculosis therapy, which showed no improvement. Examination was suggestive of pleura involvement. Investigations showed strongly positive antinuclear antibody with a homogeneous pattern and mitotic spindle enhancement. The autoantibody profile showed positivity for anti-dsDNA, anti-Smith, U1-RNP, SSA (Ro), SSB (La), Ro-52, histone, and nucleosome antibodies. Rheumatoid factor was also positive, while KU antibody and DFS70 were borderline positive. Antimalarial drug, corticosteroid, and immune-suppressants with supportive management were given.

Familial SLE is uncommon but clearly delineated, with first-degree relatives at far greater risk. Misdiagnosis with tuberculosis is typical in endemic areas due to the overlap of symptoms like pleuritis and fever. Diagnosis can only be made early by a thorough immunologic workup and family history.

This case highlights the importance of considering SLE in patients with unresolved pleural and joint symptoms, especially in the presence of a strong family history. Early recognition of familial SLE can avoid misdiagnosis and lead to better outcomes through timely initiation of immunosuppressive therapy.