Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Primary hypertriglyceridemia in childhood.

R J Deckelbaum, C Dupont, J LeTarte

    American Journal of Diseases of Children (1960)
    |April 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Embryotoxicity testing of IVF disposables: how do manufacturers test?

    Human reproduction (Oxford, England)·2020
    Same author

    [How to promote hospital teams to users for their involvement in the actions of the perinatal networks?]

    Gynecologie, obstetrique, fertilite & senologie·2019
    Same author

    Recurrence of a primary xanthoma of the humerus in a 9-year-old normolipidemic child.

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2019
    Same author

    Nutritional risks of ARFID (avoidant restrictive food intake disorders) and related behavior.

    Archives de pediatrie : organe officiel de la Societe francaise de pediatrie·2019
    Same author

    [Polycystic ovary syndrome does not affect blastulation nor cumulative live birth rates].

    Gynecologie, obstetrique, fertilite & senologie·2019
    Same author

    [Overview of induction of labor practices in France].

    Gynecologie, obstetrique, fertilite & senologie·2019

    Severe familial primary hypertriglyceridemia in children can cause new symptoms like limb and scrotum swelling. This condition involves high triglyceride levels and may represent an unusual genetic variant.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Background:

    • Familial primary hypertriglyceridemia is a genetic disorder characterized by extremely high triglyceride levels.
    • Early-onset hypertriglyceridemia can lead to significant health complications.

    Purpose of the Study:

    • To describe a novel clinical manifestation in children with severe familial primary hypertriglyceridemia.
    • To investigate the biochemical and genetic characteristics of affected individuals.

    Main Methods:

    • Clinical observation of five children with severe familial primary hypertriglyceridemia.
    • Measurement of plasma triglyceride, chylomicron, and very-low-density lipoprotein levels.
    • Assessment of plasma lipase activities post-heparin administration in sibling subjects.

    Related Experiment Videos

    Main Results:

    • Intermittent swelling of limbs and scrotum observed in five of six children, associated with plasma triglyceride levels > 2,000 mg/dL.
    • Severe elevation of plasma chylomicrons and mild elevation of very-low-density lipoproteins were noted.
    • Sibling subjects exhibited heterogeneous plasma lipase activities, suggesting genetic variability.

    Conclusions:

    • The observed intermittent swelling may represent a new clinical feature of severe familial primary hypertriglyceridemia.
    • The findings suggest a possible unusual genetic variant of primary hypertriglyceridemia in these patients.