Obesity in achondroplasia patients: from evidence to medical monitoring

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...

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Bibliographic Details
Published in:	Orphanet journal of rare diseases 2019-11, Vol.14 (1), p.253-253, Article 253
Main Authors:	Saint-Laurent, Celine, Garde-Etayo, Laura, Gouze, Elvire
Format:	Article
Language:	eng
Subjects:	Achondroplasia Animals Bariatric Surgery Child health Children Dwarfism FGFR3 Health aspects Humans Life Sciences Monitoring, Physiologic Nutrition Obesity Patient monitoring equipment Receptor, Fibroblast Growth Factor, Type 3 Recommendations Review
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Summary:	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.
ISSN:	1750-1172 1750-1172