Prevalence Assessment and Characterization of Psychological Disorders Associated With Hypobetalipoproteinemia (HYPOPSY)

Nantes University Hospital (NUH)

Status: Completed

Conditions: Hypobetalipoproteinemia

Treatments: Other: Hypobetalipoproteinemia diagnosis (LDL-C ≤ 50 mg/dL without hypolipidemic treatment)

Study type: Observational

Funder types: Other

Identifiers

NCT02889614

RC15_0345

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 3,000 patients

Sex: All

Ages: 18 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients admitted in mental Disorders Unit in Nantes University Hospital

Exclusion criteria

• Minor patient