Related Experiment Video

Updated: Aug 30, 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

Homozygous familial hypercholesterolemia: specific indication for domino liver transplantation

Irinel Popescu1, Maya Simionescu, Dan Tulbure

  • 1Center of General Surgery and Liver Transplantation, Fundeni Clinical Institute, Bucharest, Romania. irinel.popescu@icfundeni.ro

Transplantation
|November 25, 2003
PubMed

Insights

Domino liver transplantation using a liver from a homozygous familial hypercholesterolemia (FHC) patient is effective. This approach successfully treated a patient with cirrhosis and hepatocellular carcinoma, demonstrating the viability of FHC livers in transplantation.

Area of Science:

  • Hepatology
  • Transplantation immunology
  • Metabolic disorders

Background:

  • Domino liver transplantation offers a solution to donor shortages.
  • Homozygous familial hypercholesterolemia (FHC) is characterized by absent/deficient LDL receptors and high cholesterol.
  • A case involving FHC liver donation for a patient with cirrhosis and hepatocellular carcinoma is presented.

Observation:

  • A split liver from an FHC patient was used for domino transplantation.
  • The FHC patient received part of a split liver, and their liver was transplanted into the recipient.
  • Low-density lipoprotein receptor (LDL-R) expression was quantified on monocytes and via gene expression analysis.

Findings:

  • One year post-transplant, the FHC donor had normal cholesterol; the recipient had slightly elevated cholesterol despite simvastatin.
  • Peripheral LDL-R quantification showed 6.7% in FHC and 71% in the recipient.
  • Gene expression analysis confirmed LDL-R presence.

Implications:

  • Domino transplantation is feasible with FHC donor livers, even for recipients with marginal indications.
  • Slightly elevated recipient cholesterol may be due to functional extrahepatic LDL-R.
  • This strategy expands donor pool options in liver transplantation.
Abstract

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

Related Concept Videos

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 related to...
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...
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...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Chronic Pancreatitis II: Pathophysiology01:21

Chronic Pancreatitis II: Pathophysiology

Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...
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...