Familial hypercholesterolemia
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Familial hypercholesterolemia
Cardiovascular system
Vascular disorders
Arterial disease
Angina pectoris
Stable angina
Unstable angina
Myocardial infarction
Prinzmetal angina
Coronary steal syndrome
Peripheral artery disease
Subclavian steal syndrome
Aneurysms
Aortic dissection
Vasculitis
Behcet's disease
Kawasaki disease
Hypertension
Hypertensive emergency
Renal artery stenosis
Coarctation of the aorta
Cushing syndrome
Conn syndrome
Pheochromocytoma
Polycystic kidney disease
Hypotension
Orthostatic hypotension
Abetalipoproteinemia
Familial hypercholesterolemia
Hypertriglyceridemia
Hyperlipidemia
Chronic venous insufficiency
Thrombophlebitis
Deep vein thrombosis
Lymphedema
Lymphangioma
Shock
Vascular tumors
Human herpesvirus 8 (Kaposi sarcoma)
Angiosarcomas
Congenital heart defects
Truncus arteriosus
Transposition of the great vessels
Total anomalous pulmonary venous return
Tetralogy of Fallot
Hypoplastic left heart syndrome
Patent ductus arteriosus
Ventricular septal defect
Coarctation of the aorta
Atrial septal defect
Cardiac arrhythmias
Atrial flutter
Atrial fibrillation
Premature atrial contraction
Atrioventricular nodal reentrant tachycardia (AVNRT)
Wolff-Parkinson-White syndrome
Ventricular tachycardia
Brugada syndrome
Premature ventricular contraction
Long QT syndrome and Torsade de pointes
Ventricular fibrillation
Atrioventricular block
Bundle branch block
Pulseless electrical activity
Valvular disorders
Tricuspid valve disease
Pulmonary valve disease
Mitral valve disease
Aortic valve disease
Cardiomyopathies
Dilated cardiomyopathy
Restrictive cardiomyopathy
Hypertrophic cardiomyopathy
Heart failure
Heart failure
Cor pulmonale
Cardiac infections
Endocarditis
Myocarditis
Rheumatic heart disease
Pericardial disorders
Pericarditis and pericardial effusion
Cardiac tamponade
Dressler syndrome
Cardiac tumors
Cardiac tumors
Cardiovascular system pathology review
Acyanotic congenital heart defects: Pathology review
Cyanotic congenital heart defects: Pathology review
Atherosclerosis and arteriosclerosis: Pathology review
Coronary artery disease: Pathology review
Peripheral artery disease: Pathology review
Valvular heart disease: Pathology review
Cardiomyopathies: Pathology review
Heart failure: Pathology review
Supraventricular arrhythmias: Pathology review
Ventricular arrhythmias: Pathology review
Heart blocks: Pathology review
Aortic dissections and aneurysms: Pathology review
Pericardial disease: Pathology review
Endocarditis: Pathology review
Hypertension: Pathology review
Shock: Pathology review
Vasculitis: Pathology review
Cardiac and vascular tumors: Pathology review
Dyslipidemias: Pathology review
Assessments
Familial hypercholesterolemia
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Familial hypercholesterolemia
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USMLE® Step 1 style questions USMLE
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Reproduced from: Wikimedia Commons
Which of the following conditions has the same inheritance pattern as this patient’s condition?
External References
First Aid
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Corneal arcus
familial hypercholesterolemia p. 92
Familial hypercholesterolemia p. 58, 92
presentation p. 714
Tendinous xanthomas p. 307
familial hypercholesterolemia p. 92
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Transcript
Content Reviewers
Viviana Popa, MDContributors
Anuj Paul
Michael Carrese
Jung Hee Lee, MScBMC
Evan Debevec-McKenney
With familial hypercholesterolemia, familial means the disease runs in families, so it has a genetic predisposition, hyper means excess and lastly cholesterolemia refers to the level of cholesterol in the blood.
So, familial hypercholesterolemia is a genetic disorder associated with high levels of cholesterol in the blood.
Now, cholesterol is a lipid molecule, so a type of fat, that normally helps maintain the structure of cell membranes, and is a precursor to steroid hormones, bile acids, and vitamin D.
There are two main types of cholesterol: LDL or Low Density Lipoprotein which is sometimes called “bad cholesterol,” nad HDL or High Density Lipoprotein which is sometimes called “good cholesterol.”
But good and bad is overly simplistic, and like all things - the subtleties matter.
LDL is produced by the liver and it carries cholesterol out to the rest of the body.
If all of the cholesterol from LDL is not completely distributed to the peripheral cells, then HDL brings some of that cholesterol back from the peripheral tissues and sends it to the liver.
Now, what makes LDL bad and HDL good is that, whenever there’s a high blood concentration of LDL, the LDL can be ingested by macrophages that sit along vessel walls, forming atherosclerotic plaques.
Over decades, large atherosclerotic plaques can lead to myocardial infarctions, strokes, and peripheral vascular disease.
That’s why we want to keep LDL blood levels under control.
On the other hand, HDL can remove cholesterol from cells and that can help reverse the process of atherosclerosis.
Summary
Familial hypercholesterolemia (FH) is an autosomal dominant condition in which there are abnormally high levels of LDL cholesterol in the blood. The condition increases a person's risk for heart disease and other serious health problems. FH is caused by defects in one of several genes that control the amount of cholesterol in the blood. People with FH can present with xanthomas (fats build up under the skin), xanthelasma (fats build up in the eyelids), fatty liver, and pancreatitis.
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