Farber's Lipogranulomatosis: Multimodal Therapy With Tocilizumab and Consolidative HSCT Improves Assessment, and Long‐Term Outcome

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Abstract

Farber's lipogranulomatosis (FL) is an autosomal recessive lipid storage disorder, arising as a consequence of genetic acid ceramidase deficiency. Clinically, it presents as severe arthritis, voice hoarseness, and widespread, painful subcutaneous nodules (SCN). For those without CNS involvement, haematopoietic stem cell transplant provides a viable option for the improvement of both respiratory and musculoskeletal morbidity. A better understanding of macrophage-driven inflammation in FL has resulted in targeted medical therapies such as Tocilizumab being utilized in FL patients. Since FL is a rare disease, minimal guidance on how treatment modalities should be utilized is available. We describe the case of a girl with FL presenting at 15 months with severe pain, swelling, and deformity of predominantly the small joints secondary to SCNs. Critical airway narrowing from laryngeal nodules necessitated tracheostomy. Regression of motor skills was also apparent. Fortnightly tocilizumab infusions improved pain and irritability, allowing neurological evaluation and tracheostomy decannulation. It did not halt the progression of SCNs. Therefore, we completed a 10/10 matched family donor haematopoietic stem cell transplant. Post-transplant, she is stable neurologically, with resolution of her SCN, and her cognition, performance status, and well-being are considerably improved by transplant.

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