AI Article Synopsis
- Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare genetic condition that causes difficulty in storing fat, resulting in low body fat and high triglycerides, along with fatty liver issues.
- Patients with BSCL typically show very low levels of serum leptin, but high levels of insulin and HOMA, which are positively linked to bone mineral density (BMD).
- Despite factors like low vitamin D and physical inactivity, BSCL patients often have normal or high BMD, suggesting that low leptin and high insulin might influence bone health in this condition.
Article Abstract
Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive syndrome characterized by a difficulty storing lipid in adipocytes, low body fat, hypertriglyceridemia, and fat liver. The serum leptin is usually very low, and serum insulin, as well as HOMA (homeostasis model assessment), is very high and correlated positively with bone mineral density (BMD). Despite deficiency/insufficiency of vitamin D, low body mass index, low daily calcium intake, physical inactivity, and menarche at a later age, BSCL patients usually have normal or even high BMD. We hypothesize that low leptin and high insulin may play a role in this outcome. Understanding the potential pathophysiological mechanism of these bone abnormalities will help to clarify the effects of extreme insulin resistance in the bone.
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| http://dx.doi.org/10.1016/j.mehy.2016.10.025 | DOI Listing |
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