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

[Hypercholesterolemia ]

H Schmidt1, G M Kostner

  • 1Institut für Medizinische Biochemie, Universität Graz.

Wiener Medizinische Wochenschrift (1946)
|January 1, 1994
PubMed
Summary
This summary is machine-generated.

Familial hypercholesterolemia, a common genetic disorder, can lead to early heart disease. Early diagnosis and aggressive treatment, including lipid-lowering drugs, are crucial for better outcomes.

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

[New AHA and ACC guidelines on the treatment of blood cholesterol to reduce atherosclerotic cardiovascular risk : Statement of the D•A•CH Society for Prevention of Cardiovascular Diseases, the Austrian Atherosclerosis Society and the Working Group on Lipids and Atherosclerosis (AGLA) of the Swiss Society for Cardiology].

Der Internist·2014
Same author

Fluorescence labeling and interaction of atherogenic lipoproteins with cultured cells.

Journal of fluorescence·2013
Same author

Transfer of pyrene-dietherphosphatidylcholine to serum lipoproteins.

Journal of fluorescence·2013
Same author

Expression of fat mobilizing genes in human epicardial adipose tissue.

Atherosclerosis·2011
Same author

Therapy of hyper-Lp(a).

Handbook of experimental pharmacology·2006
Same author

Human paraoxonase 1 gene polymorphisms and the risk of coronary heart disease: a community-based study.

Cardiology·2002

Area of Science:

  • Cardiology
  • Genetics
  • Metabolic Disorders

Context:

  • Hypercholesterolemia encompasses various types, including genetic forms like familial hypercholesterolemia and familial apolipoprotein B-100 defect.
  • These conditions are prevalent genetic disorders, affecting approximately 1 in 500 individuals globally.
  • Severe coronary arteriosclerosis and premature death are significant risks, particularly in homozygous familial hypercholesterolemia.

Purpose:

  • To review the types, pathophysiology, diagnosis, and therapy of hypercholesterolemia.
  • To highlight the clinical similarities and severe consequences of familial hypercholesterolemia and familial apolipoprotein B-100 defect.
  • To emphasize the importance of differentiating monogenetic from polygenetic forms and implementing proactive screening and treatment strategies.

Summary:

Related Experiment Videos

  • Familial hypercholesterolemia and familial apolipoprotein B-100 defect present similarly, causing severe atherosclerosis and early mortality, with homozygous forms leading to adolescent coronary heart disease.
  • These genetic disorders necessitate precise diagnosis to distinguish them from polygenetic hypercholesterolemia, underscoring the need for family screening.
  • Effective management requires aggressive therapeutic interventions, as monotherapy and diet alone achieve target cholesterol levels in only 25% of patients.

Impact:

  • Aggressive treatment strategies, including HMG-CoA reductase inhibitors and combination drug therapies, are essential for managing hypercholesterolemia.
  • Early detection and intervention in familial hypercholesterolemia can significantly improve patient prognosis and reduce premature cardiovascular events.
  • Alternative treatments like extracorporeal cholesterol elimination may be necessary for refractory cases, improving long-term outcomes.