Case Report: An Atypical Form of Familial Partial Lipodystrophy Type 2 Due to Mutation in the Rod Domain of Lamin A/C.

Cecchetti C, D’Apice MR, Morini E, Novelli G, Pizzi C, Pagotto U, Gambineri A.

Front Endocrinol (Lausanne). 2021 Apr 19;12:675096. 

Abstract

This report supports the idea that there are “atypical forms” of Familial partial lipodystrophy type 2 (FPLD2) with cardiomyopathy, especially when a pathogenic variant affects the lamin A/C head or alpha-helical rod domain. It also highlights how increased understanding of the genotype-phenotype correlation could help clinicians to schedule personalized monitoring of the lipodystrophic patient, in order to prevent uncommon but possible devastating manifestations, including arrhythmias and sudden death.

 

medline link: https://pubmed.ncbi.nlm.nih.gov/33953703/