Endocrine Abstracts

JOINT1870

Background: Hematopoietic stem cell transplantation (HSCT) has emerged as a rare cause of acquired lipodystrophy (AL). This condition, characterized by abnormal fat distribution and metabolic diseases, remains poorly described in pediatric patients.

Aim: Primary aim is to explore the incidence of AL in a large cohort of children treated with HSCT. Secondary aims are to evaluate the clinical and metabolic parameters in children with AL following HSCT and to describe the response to conventional management with a long-term follow up.

Methods: Among a total of 583 children with HSCT referred in the last 2 years to the endocrinology department of our tertiary Pediatric Hospital during the routinely follow up, we identified 6 cases (1%) of AL. All patients were monitored at six-monthly clinical visits with metabolic and endocrinological assessments, including leptin levels, during a follow up of 8-15 years. Liver/thyroid ultrasound scans were performed annually.

Results: Our patient group consists of 2 males and 4 females, all of whom were diagnosed with leukemia in childhood. Patients 1, 2, and 4 were diagnosed within the first two years of life. Four of six patients underwent a total body irradiation (TBI) as pre-transplant conditioning and all of them had a history of cutaneous graft-vs-host-disease (GVHD). Patient 3 underwent two HSCT due to disease relapse. The children presented with various metabolic symptoms, including hyperinsulinism, increased fasting and two-hour post-load glucose levels with a variable progression to T2D, severe dyslipidemia, and hepatic steatosis/steatohepatitis. Leptin levels range from a very low value of 1. 16 (patient 1) to a slightly elevated value of 21. 16 ng/ml (patient 6), with a mean value of 11. 8±10. 1 ng/ml. The BMI ranged from -3, 08 to +1, 08 SDS with a mean of +0, 58 SDS. The mean time from HSCT to AL diagnosis was 9. 8 years and the mean age at diagnosis of AL was 15. 25 years (range 9. 7 - 28. 3 years). The conventional treatment with metformin, GLP1 analogues, omega 3 fatty acids and lifestyle interventions showed a poor response. Despite treatment with metformin, patient 3 developed Type2Diabetes (T2D) treated with GLP-1 analogues with a partial response.

Conclusions: AL is a rare and severe complication of HSCT in children, increasingly recognized in association with TBI and GVHD. Long-term follow-up of metabolic health is crucial for early identification and management. Further research is needed to elucidate the risk factors and suggest other therapeutic strategies, including the use of metreleptin to improve metabolic control.