Obesity in achondroplasia patients: from evidence to medical monitoring
- PDF / 569,000 Bytes
- 9 Pages / 595.276 x 790.866 pts Page_size
- 38 Downloads / 199 Views
(2019) 14:253
REVIEW
Open Access
Obesity in achondroplasia patients: from evidence to medical monitoring Celine Saint-Laurent1, Laura Garde-Etayo2 and Elvire Gouze1,3*
Abstract Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism. It is characterized by bone growth abnormalities that are well characterized and by a strong predisposition to abdominal obesity for which causes are unknown. Despite having aroused interest at the end of the 20 h century, there are still only very little data available on this aspect of the pathology. Today, interest is rising again, and some studies are now proposing mechanistic hypotheses and guidance for patient management. These data confirm that obesity is a major health problem in achondroplasia necessitating an early yet complex clinical management. Anticipatory care should be directed at identifying children who are at high risk to develop obesity and intervening to prevent the metabolic complications in adults. In this review, we are regrouping available data characterizing obesity in achondroplasia and we are identifying the current tools used to monitor obesity in these patients. Keywords: Achondroplasia, FGFR3, Obesity, Children, Recommendations, Nutrition
Introduction Achondroplasia is a rare genetic disease representing the most common form of short-limb dwarfism affecting approximately 250,000 people worldwide [1]. Mechanistically, achondroplasia is an autosomal dominant disease caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene [2] that corresponds to a Gly380Arg substitution in 90% of the cases [3–5]. This mutation induces the hyperactivation of the Ras/Mitogen-Activated Protein Kinase (MAPK) signaling pathway inhibiting the proliferation and differentiation of chondrocytes [6–8]. By opposition, hyperactivation of this pathway plays a positive role in adipocyte differentiation. Achondroplasia is characterized by bone growth abnormalities whose mechanisms are well-known and by a strong predisposition to abdominal obesity for which causes are not completely understood [1, 9–11]. Obesity has nevertheless been recognized for decades as a major health problem in achondroplasia and, although this has not been formally demonstrated in meta-analysis studies, it is believed to aggravate
complications such as lumbar spinal stenosis, joint pain or sleep apnea [12]. Some clinical observations showed that, in the context of achondroplasia, this atypical visceral obesity development is not associated with a diabetic profile but rather with low insulin and glucose levels [11, 13, 14]. The need for a management of obesity nevertheless became obvious and in 2008, Julie Hoover-Fong proposed a new sex- and age-specific body mass index (BMI) curves in achondroplasia children in the US [15]. Several growth curve references have now been established in the different continents [16, 17]. However, the medical monitoring of patient is complex because there are no established standards available to evaluate obesity in ac
Data Loading...
