Familial Hypercholesterolemia

Words: 548
Pages: 3
Open Document
Hypercholesterolemia is a medical condition which is defined as above normal levels of cholesterol in the blood. High cholesterol is not always genetic, but when the tendencies for high LDL levels run in families it is called Familial Hypercholesterolemia. Hyper is the Greek root word meaning above or beyond, cholesterol is a fatty chemical, and the root emia is from the Greek root heme which means blood. (Kelly 2013) Hypercholesterolemia comes in two forms, heterozygous and homozygous.
Familial hypercholesterolemia is an autosomal dominant disorder affecting the 19th chromosome (fig 1., Kent, Sugnet, Furey, Roskin, Pringle, Zahler, and Haussler 2002). LDL is normally bound at the cell membrane and then taken into the cell for the protein to …show more content…
Diagnosis of heterozygous FH can be made if the LDLc level is more than 330 mg/dL or if tendon xanthomas are present in a patient with an LDLc level above the 95th percentile. Definitive diagnosis can be made only with gene or receptor analysis. Tests to rule out diabetes, hypothyroidism, hepatic disease, and renal disease are usually run to be sure the hypercholesterolemia is from another source (Citkowitz 2014).
Hypercholesterolemia is commonly treated with lifestyle changes such as exercise, diet (don’t eat a lot of beef, chicken, pork, or lamb; substitute low fat dairy; limit alcohol; and stay away from coconut & palm oils), and no smoking. Often medications such as statins are prescribed (Kelly 2013). For those with homozygous FH, LDL apheresis is used as a treatment beginning during the ages of 5 to 8. Also, to live beyond the age of 30, most patients will require more intense medical treatments like liver transplantation or ileal bypass surgery to lower their LDL levels to an acceptable point. (Citkowitz
Show More

Related Documents: Familial Hypercholesterolemia

Essay Kawasaki As Meningitis

is rarely preferred for use in pediatric patients because of the small diameter of their vessels (5). Extracardiac vascular involvement (including that involving the aortic root and carotid artery) has been documented in children with familial hypercholesterolemia and the incidence of such involvement increases with the age of the patient. Evaluation for atherosclerosis of the aorta is not routinely performed preoperatively in children, although atheroembolism from the ascending aorta is a major…

Words 1735 - Pages 7

Pcsk9 Lab Report

with the LDL particle, although if PCSK9 does not bind to an LDLR, the receptor can return to the surface of the cell and remove more cholesterol. Other variants of PCSK9 are associated with a rare autosomal dominant familial hypercholesterolemia (HCHOLA3). Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically high amounts of low-density lipoprotein (LDL), also known as the “bad cholesterol” (Lewis 2001). The mutations increase its protease…

Words 1666 - Pages 7

Hyperlipidemia Research Paper

Hyperlipidemia, especially low density lipoprotein is associated with cardiovascular risk. Lipid lowering medications are indicated to decrease elevated cholesterol. Statins are considered the best therapy to decrease elevated LDL. If in some cases statins alone cannot decrease the LDL one can use other agents that are available. However, some patients, including young adults, are not able to decrease the low density lipoprotein. These individuals are at greatest risk for cardiovascular disease.…

Words 2052 - Pages 9

Essay on Obesity: Obesity and Internet Source Obesity

English IV 1 October 2013 Obesity Many humans in America have been diagnosed with obesity over the last past decade. The humans that are diagnosed are overweight and have serious health issues. Obesity has become the world’s largest health issue. Most humans who are victims of obesity often are at risk of a non-healthy lifestyle. Obesity also is on the rise in children. Individuals who have problems with obesity struggle to live a normal and healthy lifestyle. Uncontrolled obesity in…

Words 2741 - Pages 11

Freshman Semester Heart Notes Essay

THE HEART The Cardiovascular System & Drugs NEED TO INCLUDE LAB VALUES TO LOOK AT!!!! Components Pump (heart) Interconnected series of tubes that continually move blood throughout the body Functions Delivering oxygen and nutrients to all of the cells of the body Removing waste products for excretion Blood Flow Through the Systemic and Pulmonary Vasculature Circuits Direction of the Blood Flow of the Heart Deoxygenated Blood Right atrium, through tricuspid valve to right ventricle, through pulmonary…

Words 2913 - Pages 12

Infectious Disease Epidemiology

1. Public health and health system a. Please name four important components and functions of health system. (4 marks) The four important components and functions of health system include delivery of services, creating resources, health financing, and leadership and governance (Lecture 1). Providing services and responding to the peoples’ needs and expectations with available resources such that the best possible outcomes are achieved, are factors that make a health system effective. Moreover, to…

Words 1809 - Pages 8

Essay on Atherosclerosis Current Diagnosis

the brain, or Peripheral Vascular Disease (PAD)- loss of blood supply to the legs. A plague lesion starts when the endothelial layer of the arterial wall becomes damaged. Although the proper control of many risk factors like hypertension, hypercholesterolemia, hyperglycemia, and smoking could reduce the disease incidence, many studies suggest that the role of nitric oxide, oxidative radicals, lipoproteins, and autoimmune response are the main aspects to consider in atherosclerosis prevention and…

Words 4716 - Pages 19

MR250 Unit 7 Reading Essay

MR250 Unit 7 Reading-Chapter 8 Cardiology and Hematology The cardiovascular or circulatory system consists of the heart and the blood vessels (arteries, capillaries, veins) (see Figures 8-1 and 8-2). The purpose of the system is to provide rapid delivery to the tissues of oxygen from the lungs; nutrients, minerals, vitamins, and water from the digestive system; hormones from glands; and white blood cells from bone marrow and lymphoid tissue, while removing waste products and delivering them to the…

Words 8940 - Pages 36