Related Experiment Video
Updated: Jun 28, 2025
10:56
A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
8.2K
Addressing comprehensive complexities a striking familial hypercholesterolemia case study
Shazia Rasheed1, Ghulam Kubra1, Lubna Baqai2
1Non-Invasive Cardiology at National Institute of Cardiovascular Diseases (NICVD), Rafiqui (H.J.) Shaheed Road, Karachi, 75510, Pakistan.
Summary
Familial hypercholesterolemia (FH) management requires early intervention. This case highlights advanced cardiovascular complications and the need for multidisciplinary care in young FH patients.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Metabolic Disorders
Background:
- Familial hypercholesterolemia (FH) is a rare genetic disorder causing high LDL cholesterol and early atherosclerosis.
- FH significantly increases the risk of premature coronary heart disease and vascular complications.
Purpose of the Study:
- To present a case study of a 16-year-old female with familial hypercholesterolemia.
- To explore the cardiovascular complexities and management of FH in adolescents.
Main Methods:
- Diagnostic evaluation including ECG, troponin levels, and lipid profile.
- Advanced imaging: transthoracic echocardiography, CT angiography, and cardiac catheterization.
- Multidisciplinary interventions tailored to the patient's condition.
Main Results:
- The patient presented with chest pain and dyspnea, indicative of acute cardiovascular events.
- Profound dyslipidemia and significant aortic and mitral valve involvement were identified.
- Interventions led to notable improvements in ventricular function and valve regurgitation.
Conclusions:
- Early diagnosis and comprehensive management are crucial for addressing FH's cardiovascular challenges.
- Aggressive lipid-lowering therapies and advanced imaging are vital for FH patients.
- Multidisciplinary care is essential for optimizing outcomes in complex FH cases.
Related Concept Videos
01:29Cholesterol: Significance and Regulation
540
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...
Considering cholesterol and...
540
01:25Blood Studies for Cardiovascular System III: Serum Lipid Profile
156
Understanding serum lipids is crucial for maintaining cardiovascular health and preventing heart disease and stroke.
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
Serum lipids are fats and fatty substances in the blood and are crucial for various bodily functions, including energy storage, cellular structure, and hormone production. Serum lipids consist of cholesterol, triglycerides, and phospholipids.
Cholesterol is a soft, fat-like substance found in all body cells. It is crucial for producing hormones, vitamin D, and substances that aid...
156
01:29Chronic Pancreatitis II: Collaborative Care
86
The management of chronic pancreatitis is multifaceted, involving a comprehensive approach that includes thorough assessment, diagnostic testing, and a variety of management strategies.
Assessment:
Assessment:
86
01:20Lipid-Lowering Drugs: Statins and Miscellaneous Agents
655
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...
655
01:31Lipid-derived Compounds in the Human Body
4.4K
Fats and lipids are crucial components in the human body. Some lipid-derived compounds, such as fat-soluble vitamins, eicosanoids, lipoproteins, and glycolipids, also play unique roles to support various biological processes .
Fat-soluble Vitamins
Fat-soluble vitamins, including vitamins A, D, E, and K, are required in minimal quantities, but their deficiencies can lead to severely abnormal physiological conditions. For example, vitamin A deficiency can cause night blindness, dry skin,...
Fat-soluble Vitamins
Fat-soluble vitamins, including vitamins A, D, E, and K, are required in minimal quantities, but their deficiencies can lead to severely abnormal physiological conditions. For example, vitamin A deficiency can cause night blindness, dry skin,...
4.4K
01:18Lipids: Dietary Sources and Requirements
731
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...
731