# A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype

## TL;DR

A young Indian woman with diabetes and unusual fat loss had a rare genetic mutation linked to a lipid disorder, marking the first such case in India.

## Contribution

The first reported case of familial combined hyperlipidemia with lipodystrophy in India, highlighting a novel genetic variant and management challenges.

## Key findings

- A rare LPL gene mutation was identified in a patient with diabetes, dyslipidemia, and lipodystrophy.
- The patient's family members also showed dyslipidemia but without lipodystrophy.
- The case highlights difficulties in managing dyslipidemia despite multiple medications.

## Abstract

A female patient from India was diagnosed with diabetes at 16 years of age and presented to a tertiary care diabetes clinic nine months later with hyperglycemia and dyslipidemia (hypercholesterolemia and hypertriglyceridemia), while on insulin and statin therapy. The striking feature was the presence of lipodystrophy on both her upper and lower limbs. Both her elder brother and mother showed the presence of dyslipidemia and a normal phenotype on cascade screening. All three of them had a normal BMI. Managing the case was challenging due to the suboptimal response of dyslipidemia to the various combinations of medication. Genetic testing revealed a rare mutation in the LPL gene, causing familial combined hyperlipidemia (FCH) with an unusual association of lipodystrophy. A similar heterozygous mutation was found in the mother. We report the first case of FCH with lipodystrophy from India and share the challenges encountered during the three years of follow-up.