Related Experiment Video

Updated: Jan 5, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.4K

The curative treatment of familial hypercholesterolemia: Liver transplantation

Nazli Gulsoy Kirnap1, Mahir Kirnap2, Neslihan Bascil Tutuncu1

  • 1Department of Endocrinology, Baskent University, Ankara, Turkey.

Clinical Transplantation
|October 19, 2019
PubMed

Insights

Liver transplantation offers a cure for Familial Hypercholesterolemia (FH), a genetic disorder causing early heart problems. This study shows LT effectively lowers cholesterol and halts cardiovascular complication progression in FH patients.

Area of Science:

  • Cardiovascular Medicine
  • Hepatology
  • Genetics

Background:

  • Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder.
  • FH leads to premature cardiovascular complications and mortality.
  • Liver transplantation (LT) is the sole curative treatment for FH.

Purpose of the Study:

  • To present long-term clinical follow-up data of patients with FH who underwent LT.
  • To evaluate the efficacy of LT in managing FH and its associated cardiovascular risks.

Main Methods:

  • Retrospective evaluation of 8 patients diagnosed with FH who underwent LT.
  • Data collected from December 1985 to June 2019.
  • Analysis included patient demographics, transplantation type, preoperative conditions, and postoperative outcomes.

Main Results:

  • Significant reduction in postoperative LDL-C and TC levels observed starting from the first week post-LT.
  • Cholesterol levels stabilized by the first month and first year after transplantation.
  • Median patient survival was 5 years (range 2-12 years), with all patients remaining alive; preoperative cardiovascular complications did not progress.

Conclusions:

  • Liver transplantation is an effective curative treatment for the underlying pathophysiology of FH.
  • LT successfully controls LDL-C levels in FH patients.
  • A median 5-year follow-up demonstrates that LT abates the progression of cardiac complications in FH patients.
Abstract

Keywords:
arcus cornealiscoronary artery diseasehyperlipidemialivertendinous xanthomata

More Related Videos

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine09:54

Lentiviral Vector-mediated Gene Therapy of Hepatocytes Ex Vivo for Autologous Transplantation in Swine

Published on: November 4, 2018

8.5K
LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

14.0K

Related Concept Videos

Lipid-Lowering Drugs: Statins and Miscellaneous Agents01:20

Lipid-Lowering Drugs: Statins and Miscellaneous Agents

Hyperlipidemia, a medical condition often referred to as high cholesterol, is characterized by abnormally elevated levels of lipids in the bloodstream. When present in excess, these lipids, specifically cholesterol and triglycerides, can lead to serious health complications, often involving cardiovascular diseases. Illnesses like atherosclerosis, heart attacks, and pancreatitis have all been linked to untreated hyperlipidemia. This means controlling and regulating cholesterol and triglyceride...
1.3K
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
1.2K
Diseases of the Liver and Gallbladder01:26

Diseases of the Liver and Gallbladder

Liver and gallbladder diseases are a significant health concern, with prominent conditions including cirrhosis, hepatitis, non-alcoholic fatty liver disease (NAFLD), and gallstones. Jaundice is a common manifestation of liver and biliary disease.
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not...
1.8K
Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
287
Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow01:26

Effect of Hepatic Disease on Pharmacokinetics: Drug Dosing and Hepatic Blood Flow

Chronic liver disease significantly impacts drug metabolism due to alterations in hepatic blood flow and enzyme accessibility. This disruption affects the body's pharmacokinetics—the movement and processing of drugs within the system. Key enzymes crucial for metabolizing medications become less accessible, changing how drugs are processed and utilized. Furthermore, liver disease influences the synthesis of plasma proteins, such as albumin and globulins, which play critical roles in drug...
189
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess...
154