familial hypercholanaemia

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familial hypercholanaemia

A disorder (OMIM:607748) characterised by elevated serum bile acid concentrations, pruritus, and fat malabsorption.

Molecular pathology
Caused by defects of
• TJP2, which encodes tight junction protein 2;
• BAAT, which encodes an enzyme involved in bile acid-amino acid conjugate formation; and
• EPHX1, which encodes epoxide hydrolase-1, a biotransformation enzyme.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Polivka-West pointed out that the American Health Care Association (AHCA), National Center for Assisted Living (NCAL), and the FHCA believe that the NRF and national guidelines "should more fully address the very disparate special needs population and should specifically identify fragile individuals who live in long-term care settings."
An actuarial analysis prepared for FHCA by Aon Worldwide Actuarial Solutions, Columbia, Md., showed that loss costs for the long term care industry have increased at an annual rate of 20 percent in most states during the past five years, and 37 percent in Florida.