Familial combined hyperlipidemia

Definition:

Familial combined hyperlipidemia (FCHL) is linked and associated with the gene encoding upstream transcription factor 1 (USF1) and characterized by elevated levels of serum total cholesterol, triglycerides, or both.

References:

[1]. Jenny C Lee, et al. Familial combined hyperlipidemia: upstream transcription factor 1 and beyond. Curr Opin Lipidol. 2006 Apr;17(2):101-9. [Content Brief]

[2]. Jussi Naukkarinen, et al. Genetics of familial combined hyperlipidemia. Curr Opin Lipidol. 2006 Jun;17(3):285-90. [Content Brief]

[3]. Päivi Pajukanta, et al. Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1). Nat Genet. 2004 Apr;36(4):371-6. [Content Brief]

[4]. W S Yang, et al. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity. Proc Natl Acad Sci U S A. 1995 May 9;92(10):4462-6. [Content Brief]

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