Diabetes associated with childhood lipodystrophies: clinical characteristics and management

Yilmaz Ugur Cem; Kizilay Deniz Ozalp; Damla Goksen; Samim Ozen

doi:10.1530/endoabs.110.EP422

JOINT626

Introduction: Lipodystrophy syndromes are rare and highly heterogeneous disorders characterized by partial or complete loss of adipose tissue.

Objective: To evaluate the genetic, clinical, metabolic, and therapeutic characteristics of cases diagnosed with childhood lipodystrophy and diabetes.

Materials and Methods: Six cases diagnosed with lipodystrophy and diabetes were included. The demographic and clinical characteristics of the cases, metabolic parameters, nutritional profiles microvascular complications, treatment models, and outcomes were retrospectively analyzed.

Results: The mean age of the patients was 13 years (10–14)(5 female, 1 male). HbA1c levels and treatment modalities are given in Table 1. In Case 1, HbA1c reduced from 9.9% to 5.9% with insulin pump therapy. In case 3 HbA1c reduced from 8.5% to 5.4% with metreleptin therapy only. In case 4 HbA1c reduced from 13.3% to 6.3% with an AID system. In case 5 HbA1c reduced from 9.9% to 8.1% with regular metreleptin use, but increased to 10.7% becuse inconsistent treatment. Case 6 became insulin-independent through a clinical research intervention. The details of this therapy will be disclosed after the publication of research findings. Nephropathy was seen in 67% (n =4), polyneuropathy in 17%(n =1) and retinopathy in 17% (n =1).

Table 1: Metabolic, Glycemic Control, and Treatment Approaches
Category	Attribute	Case 1	Case 2	Case 3	Case 4	Case 5	Case 6	Mean/Median
General Information	Lipodystrophy Type	Syndromic Lipodystrophy(MINGIE)	Acquired Generalized Lipodystrophy(Panniculitis-related)	Congenital Generalized Lipodystrophy(Type 1)	Progeroid Type Lipodystrophy(Mulvihill Smith Syndrome)	Familial Congenital Partial Lipodystrophy(FPLD2, Dunnigan Type)	Congenital Generalized Lipodystrophy(CGL Type 2, BSCL2)
	Diabetes Diagnosis Age	14	14	13	10	13	14	13/13.5
	Lipodystrophy Diagnosis Age	17	13	14	16	14	6	13.33/14.0
Glycemic Control	HbA1c-At Diagnosis(%)	7.5	12.4	8.5	9.2	9.9	8.5	9.3/8.85
	HbA1c-Final(%)	5.9	12.1	5.7	6.3	10.7	6.0	7.78/6.15
Insulin Treatment Model	Insulin Therapy	Aspart-Glargine	Aspart-Glargine		Aspart-Glargine	Glulisine-Glargine	Glargine
	Insulin Delivery System	Continuous Insulin Delivery System			Automatic Insulin Delivery System
Additional Treatments	Oral Antidiabetic Metreleptin		Metformin	Metformin Metreleptin	Metformin	Metformin Metreleptin	Metformin

Conclusion: In four cases, diabetes was diagnosed before lipodystrophy, suggesting that diabetes may be an early manifestation of lipodystrophy syndromes. The use AID system was effective in maintaining glycemic control. Metreleptin therapies improved insulin resistance, resulting in significant reductions in HbA1c levels and, in some cases, eliminating the need for insulin therapy. The effective use of advanced diabetes technologies and targeted therapeutic strategies contributed to improvements in glycemic regulation.

Keywords: Diabetes associated with lipodystrophy, Metabolic control, Insulin infusion pump, Metreleptin, Pediatric and adolescent diabetes

Endocrine Abstracts

EP422