Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism. Clinical manifestation range from asymptomatic patients to metabolic (fatty liver, diabetes) or psychiatric disorders still unrecognized. HYPOPSY research, aims to evaluate prevalence of hypobetalipoproteinemia, and to characterize specific related psychiatric disorders.
Familial hypobetalipoproteinemia (FHBL, OMIM # 1707730) is a genetic disorder heterozygotic of LDL-C metabolism (Low Density Lipoprotein - Cholesterol) whose incidence is measured from 1: 500 to 1: 1000. These heterozygous individuals may be asymptomatic or present some clinical (fatty liver, diabetes) or psychiatric manifestations still unrecognized. Moreover, these individuals have mostly a longevity syndrome and cardiovascular protection. The FHBL is often due to mutations of the APOB (APOlipoprotein B), major component of LDL, VLDL (Very Low Density Lipoprotein) and chylomicrons, and in some cases, loss-of-function mutations of the serine protease PCSK9, endogenous inhibitor of the LDL receptor. HYPOPSY research, aims to evaluate, in a population with psychiatric disorders, the prevalence of hypobetalipoproteinemia, and to characterize specific related psychiatric disorders.
Study Type
OBSERVATIONAL
Enrollment
3,000
Nantes University Hospital
Nantes, France
Frequency of hypobetalipoproteinemia (LDL-C ≤ 50 mg/dL without hypolipidemic treatment) among psychiatric patients managed in Nantes University Hospital
Dosage of LDL-C
Time frame: Inclusion.
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