Related Experiment Video

Updated: Sep 28, 2025

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

8.2K

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report

Ming-Jun Xu1, Jian-Ping Chu1, Wen-Ling Fei2

  • 1Department of Pediatric Intensive Medicine, Children's Hospital of Xi'an Jiaotong University, Xi'an, People's Republic of China.

International Medical Case Reports Journal
|March 28, 2022
PubMed

Insights

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder often misdiagnosed. Early diagnosis and intensive lipid-lowering therapy, including apheresis, can lead to significant health improvements in HoFH patients.

Area of Science:

  • Genetics
  • Cardiology
  • Biochemistry

Background:

  • Homozygous familial hypercholesterolemia (HoFH) is a rare, severe autosomal recessive disorder.
  • Early diagnosis and treatment are challenging, leading to potential long-term cardiovascular complications.
  • This case highlights diagnostic delays and the importance of genetic confirmation.

Observation:

  • A 9-year-old boy initially misdiagnosed with xanthomatosis presented with HoFH.
  • Genetic testing revealed biallelic mutations in the low-density lipoprotein receptor (LDLR) gene (c.418G>A, p.E140K).
  • The patient underwent intensive lipid-lowering therapies, including atorvastatin and apheresis.

Findings:

  • Combined therapy with atorvastatin and double-filtration plasma pheresis (DFPP) reduced LDL-C by 57%.
  • Significant regression of carotid intima-media thickness (cIMT), valve regurgitation, and xanthomas was observed.
  • Intensive lipid-lowering strategies demonstrated positive therapeutic outcomes.

Implications:

  • This case underscores the critical need for early HoFH diagnosis through lipid monitoring and genetic testing.
  • Effective management involving pharmacotherapy and apheresis can reverse cardiovascular damage and improve patient prognosis.
  • Highlights the potential for successful treatment of HoFH in pediatric patients with significant clinical improvement.

Keywords:
double-filtration plasma pheresishomozygous familial hypercholesterolemialow density lipoprotein cholesterol

More Related Videos

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF03:42

Author Spotlight: Exploring the Relationship Between Lipotoxicity and HFpEF

Published on: March 29, 2024

1.7K
Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation06:47

Isolation and Analysis of Plasma Lipoproteins by Ultracentrifugation

Published on: January 28, 2021

11.6K

Related Concept Videos

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...
54
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...
925
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...
722
Lipids: Dietary Sources and Requirements01:18

Lipids: Dietary Sources and Requirements

Lipids are an essential component of a balanced human diet. Triglycerides, which make up the majority of dietary lipids, are found in both saturated fats—commonly present in meat, dairy products, and certain tropical plants like coconut, and hydrogenated oils such as margarine and baking shortenings (trans fats)—and unsaturated fats, which are abundant in seeds, nuts, olive oil, and most vegetable oils. The main sources of cholesterol include egg yolks, various meats and organ...
1.1K
Coronary Artery Disease IV: Preventive Measures01:26

Coronary Artery Disease IV: Preventive Measures

Effective preventive measures for coronary artery disease (CAD) focus on controlling modifiable risk factors, including cholesterol abnormalities and lifestyle changes.Cholesterol ManagementFirst, the Mediterranean diet and the American Heart Association advocate for maintaining low-density lipoprotein (LDL) cholesterol levels below 100 mg/dL, with a more stringent recommendation of below 70 mg/dL for individuals at high risk. LDL cholesterol, often termed "bad cholesterol," can lead to the...
60
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
76