Long-term management of relapsing anti-GPIHBP1 (Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1) associated hypertriglyceridaemia: a case report and literature review

Anti-GPIHBP1 syndrome is a rare, acquired cause of hypertriglyceridaemia, characterized by severe elevation of triglyceride that is refractory to standard lipid-lowering therapies. It is autoimmune in nature and demonstrates a significant response to immunosuppressive treatment. However, it has a chronic relapsing course and the role of maintenance immunosuppression in this syndrome remains unclear. We report a 46-year-old woman diagnosed with anti-GPIHBP1 syndrome following an initial presentation of acute pancreatitis. While her initial presentation and short-term induction response were previously reported, we would like to present her longitudinal follow-up, highlighting the long-term relapsing nature of the syndrome. She showed a good therapeutic response to intravenous rituximab infusions. Due to recurrent episodes of pancreatitis, maintenance immunosuppression with rituximab was commenced. Serial monitoring of CD19+ B-cell repopulation was used to guide the subsequent dosing timing as a hypothesis-generating strategy to aid in relapse prevention. During the latest follow-up, she remained in clinical and biochemical remission with proactive rituximab maintenance infusions. This single case observation suggests that patients with relapsing anti-GPIHBP1 syndrome might benefit from maintenance treatment with rituximab. Furthermore, regular monitoring of CD19+ B-cell repopulation may serve as a potential biomarker to guide retreatment, though it warrants further evaluation in more patients.