Cholesterol levels in Fragile X syndrome.
Berry-Kravis E1, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B.
Am J Med Genet A. 2014 Nov 25. doi: 10.1002/ajmg.a.36850. [Epub ahead of print]
Fragile X syndrome (FXS) is associated with intellectual disability and behavioral dysfunction, including anxiety, ADHD symptoms, and autistic features. Although individuals with FXS are largely considered healthy and lifespan is not thought to be reduced, very little is known about the long-term medical health of adults with FXS and no systematically collected information is available on standard laboratory measures from metabolic screens. During the course of follow up of a large cohort of patients with FXS we noted that many patients had low cholesterol and high density lipoprotein (HDL) values and thus initiated a systematic chart review of all cholesterol values present in charts from a clinic cohort of over 500 patients with FXS. Total cholesterol (TC), low density lipoprotein (LDL) and HDL were all significantly reduced in males from the FXS cohort relative to age-adjusted population normative data. This finding has relevance for health monitoring in individuals with FXS, for treatments with cholesterol-lowering agents that have been proposed to target the underlying CNS disorder in FXS based on work in animal models, and for potential biomarker development in FXS. © 2014 Wiley Periodicals, Inc.
© 2014 Wiley Periodicals, Inc.
PMID 25424470 [PubMed - as supplied by publisher]