Sirolimus-induced improvement of immune dysregulation associated hepatosplenomegaly in common variable immunodeficiency: a case-based review.
Jagoda Rogowska, Olga Brzezińska, Joanna Makowska et al.
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Case in brief
A 50-year-old woman with common variable immunodeficiency (CVID), treated with regular intravenous immunoglobulin replacement, developed progressive hepatosplenomegaly, cytopenias, abdominal enlargement, dyspnea, fatigue, and sweating. Evaluation found marked hepatosplenomegaly without focal lesions; acute infection and overt lymphoma were excluded, and CVID-associated immune-mediated lymphoproliferation was suspected. After sirolimus was started as a steroid-sparing agent, spleen length decreased from 23 cm to 12 cm by 7 months and liver size from 18 cm to 15 cm. Platelets increased from 37 to 75 × 10³/µL, and symptoms improved, although leukopenia, neutropenia, and elevated alkaline phosphatase persisted.
What made this case unusual
The case describes substantial reduction in hepatosplenomegaly with sirolimus in presumed CVID-associated immune dysregulation, alongside only partial improvement in platelet count and persistence of other laboratory abnormalities.
Diagnostic / clinical pearl
In CVID with progressive hepatosplenomegaly and cytopenias, evaluation should consider immune-mediated lymphoproliferation after excluding acute infection and overt lymphoma.
Why it matters
The reported organ and symptom response supports considering sirolimus in carefully selected patients with CVID-associated hepatosplenic involvement, while efficacy and safety remain to be confirmed in larger studies.