Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation

Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease

“…There have been no studies linking FPLD2 to OSAS, only one paper reporting two cases both of whom had type 2 diabetes, a condition known to be associated with OSAS, and neither had any dermatological or cardiac problem [1]. Our case differs from theirs in a few ways.…”

“…There is prominent increase in subcutaneous fat in posterior neck and thoracic spine as well as moderate increase in anterior neck apparent. Hagele et al in their paper describing the first two cases also postulated a link based on the fat distribution around the neck [1].…”

“…One of the less common of these is Familial Partial Lipodystrophy Type 2 (FPLD2). In fact there has been only one paper published, recently, reporting two cases of the cooccurrence of FPLD2 with OSAS [1].…”

“…FPLD2 is a metabolic disorder caused by a missense mutation in the gene encoding lamins A and C (LMNA) on chromosome 1 (1q21.3) [1,2]. Patients with FPLD2 have normal distribution of body fat during birth and childhood, but around puberty, they start losing fat from the extremities, chest, and abdomen and start gaining it in the face, neck, and intra-abdominal region, resulting in a cushinoid appearance [2].…”

Genetics of metabolic syndrome: Is there a role for phenomics?

“…There is characteristically preserved, and often increased, adipose deposition in the face, chin, and neck. Increased adipose distribution around the neck has been associated with obstructive sleep apnea [41]. The changes in adipose distribution typically commence in puberty or early adulthood and are followed later by the metabolic manifestations of hypertriglyceridemia, low HDL-C levels, insulin resistance, and T2DM2.…”