Abstract 182: A case series on lipodystrophic syndromes from a tertiary care centre in South India

Background: Lipodystrophy constitutes a spectrum of diseases characterized by generalized or partial absence of adipose tissue. Underscoring the role of healthy fat in maintenance of metabolic homeostasis, fat deficiency in lipodystrophy typically leads to metabolic disturbances including insulin re...

Full description

Saved in:
Bibliographic Details
Published in:Indian journal of endocrinology and metabolism 2022-12, Vol.26 (8), p.78-79
Main Authors: Sumana, Ediga, Nevin, S, Srujana, T, Kumar, Ega, Kalam, Sumayya, Reddy, C, Lekshmi, S, Kiran, Bangaru, Neelaveni, K, Sahay, Rakesh
Format: Article
Language:English
Subjects:
Body fat
Insulin resistance
Metabolism
Polyuria
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Background: Lipodystrophy constitutes a spectrum of diseases characterized by generalized or partial absence of adipose tissue. Underscoring the role of healthy fat in maintenance of metabolic homeostasis, fat deficiency in lipodystrophy typically leads to metabolic disturbances including insulin resistance, hypertriglyceridemia and ectopic fat accumulation. While rare recent genetic studies indicate that lipodystrophy is more prevalent than has been previously thought, suggesting underdiagnosis in clinical practice. Aims and Objectives: The present case series highlights the spectrum of lipodystrophy syndromes, clinical profile and complications. Case Details C1 & C2 who wer 28 yr & 26 yr female siblings presented with neck swelling, double chin appearance, loss of fat in extremities and not gaining weight, inspite of increased appetite. History of father having CAD mortality at 30 yr age.C3: 22 y/o female came with c/o oligomenorrhea, polyuria, polydipsia. On examination generalized loss of body fat was present.C4: 20 y/o female presented with c/o generalized fat loss, hirsutism, muscular appearance, polyuria and polydipsia. On evaluation of C1 & C2 a clinical diagnosis of Familial Partial lipodystrophy was made. Investigations revealed Prediabetes and Hypertriglyceridemia. C3 & C4 were clinically diagnosed as Congenital Generalized Lipodystrophy. Investigations revealed T2DM, PCOS, Hypertriglyceridemia which were appropriately managed. Conclusion: The aetiology and clinical features of lipodystrophy are variable. Awareness and early recognition in these cases is necessary for optimal management of the patient.
ISSN:2230-8210
2230-9500
2230-9500
DOI:10.4103/2230-8210.363689