Condition Lookup

Hypercholesterolemia

Specialty: Diabetes and Endocrinology

Sub-category: Dyslipidemia

Symptoms:
often asymptomatic; in severe cases, symptoms include xanthomas, xanthelasma (yellow deposits around the eyes), and corneal arcus.

Root Cause:
Elevated levels of low-density lipoprotein (LDL) cholesterol due to genetic or lifestyle factors, leading to an increased risk of atherosclerosis.

How it's Diagnosed: videos
Blood tests measuring LDL, HDL, total cholesterol, and triglycerides; clinical evaluation and family history.

Treatment:
Lifestyle modifications (diet, exercise, weight management), and medications to lower LDL cholesterol.

Medications:
Statins (e.g., atorvastatin , simvastatin ) are the first-line treatment to lower LDL cholesterol. Other options include bile acid sequestrants (e.g., cholestyramine ), cholesterol absorption inhibitors (e.g., ezetimibe ), and PCSK9 inhibitors (e.g., alirocumab ). Niacin and fibrates may be used in specific cases.

Prevalence: How common the health condition is within a specific population.
Approximately 12% of adults in the U.S. have elevated LDL cholesterol.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Poor diet (high in saturated and trans fats), obesity, sedentary lifestyle, smoking, excessive alcohol consumption, genetic predisposition (e.g., familial hypercholesterolemia).

Prognosis: The expected outcome or course of the condition over time.
Treatable with lifestyle changes and medications; untreated, it significantly increases the risk of cardiovascular disease, including heart attack and stroke.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Atherosclerosis, coronary artery disease, peripheral artery disease, and increased risk of myocardial infarction and stroke.

Hypertriglyceridemia

Specialty: Diabetes and Endocrinology

Category: Metabolic Disorders

Sub-category: Dyslipidemia

Symptoms:
often asymptomatic; severe cases may present with eruptive xanthomas, lipemia retinalis, or pancreatitis.

Root Cause:
Elevated triglyceride levels in the blood, often due to lifestyle factors, obesity, diabetes, or genetic disorders.

How it's Diagnosed: videos
Blood tests measuring fasting triglycerides; additional tests to identify secondary causes or genetic predispositions.

Treatment:
Lifestyle changes (low-fat, low-sugar diet, regular exercise, weight loss, avoiding alcohol) and triglyceride-lowering medications.

Medications:
Fibrates (e.g., fenofibrate , gemfibrozil ) are the primary treatment. Omega-3 fatty acids (e.g., prescription-strength EPA/DHA) and niacin can also lower triglycerides . Statins may be used when LDL is elevated.

Prevalence: How common the health condition is within a specific population.
Approximately 25% of adults in the U.S. have elevated triglycerides.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Obesity, diabetes, metabolic syndrome, excessive alcohol intake, high-carbohydrate diet, certain medications (e.g., corticosteroids).

Prognosis: The expected outcome or course of the condition over time.
Treatable with lifestyle changes and medications; untreated, severe hypertriglyceridemia can lead to pancreatitis and cardiovascular complications.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Acute pancreatitis, cardiovascular disease, and metabolic syndrome.

Mixed Hyperlipidemia

Specialty: Diabetes and Endocrinology

Category: Metabolic Disorders

Sub-category: Dyslipidemia

Symptoms:
usually asymptomatic; may present with xanthomas or cardiovascular events if untreated.

Root Cause:
Concurrent elevation of LDL cholesterol, triglycerides, and often low HDL cholesterol; typically caused by genetic factors or metabolic disorders.

How it's Diagnosed: videos
Blood lipid panel showing elevated LDL, triglycerides, and low HDL; clinical history and genetic testing may be needed.

Treatment:
Combination of lifestyle changes and medications targeting both LDL and triglycerides.

Medications:
Statins (e.g., atorvastatin , rosuvastatin ) are often combined with fibrates (e.g., fenofibrate ) or omega-3 fatty acids. Ezetimibe and PCSK9 inhibitors may be considered in severe cases.

Prevalence: How common the health condition is within a specific population.
Mixed hyperlipidemia affects 1%-5% of the population and is often associated with metabolic syndrome.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of dyslipidemia, obesity, diabetes, sedentary lifestyle, high-fat diet.

Prognosis: The expected outcome or course of the condition over time.
Treatable but requires consistent management to reduce cardiovascular risk; progression to cardiovascular disease if untreated.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Atherosclerosis, coronary artery disease, stroke, and pancreatitis.

Familial Hypercholesterolemia

Specialty: Cardiovascular

Category: Other Cardiovascular Conditions

Sub-category: Dyslipidemia

Symptoms:
tendon xanthomas; xanthelasmas (yellow deposits around the eyes); corneal arcus (gray-white ring around the cornea); premature cardiovascular disease

Root Cause:
Genetic mutation (commonly in the LDLR, APOB, or PCSK9 genes) leading to impaired clearance of LDL cholesterol, resulting in extremely high LDL levels.

How it's Diagnosed: videos
Lipid panel showing LDL >190 mg/dL (in adults) or >160 mg/dL (in children), family history of early cardiovascular disease, and genetic testing.

Treatment:
Aggressive LDL-lowering therapy, often starting at a young age. Lifestyle changes and combination medications are used.

Medications:
High-potency statins (e.g., atorvastatin , rosuvastatin ), ezetimibe , PCSK9 inhibitors (e.g., evolocumab , alirocumab ), bile acid sequestrants, and LDL apheresis in severe cases.

Prevalence: How common the health condition is within a specific population.
Heterozygous familial hypercholesterolemia affects 1 in 250 people; homozygous form is rarer (1 in 1 million).

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history of early cardiovascular disease; inheritance of a mutation in LDLR, APOB, or PCSK9 genes

Prognosis: The expected outcome or course of the condition over time.
Treatable but requires lifelong management; untreated cases lead to early cardiovascular events.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Coronary artery disease; myocardial infarction; stroke; aortic stenosis

Rhabdomyoma

Specialty: Cardiovascular

Category: Other Cardiovascular Conditions

Sub-category: Dyslipidemia

Symptoms:
heart murmurs; arrhythmias; heart failure; shortness of breath; cyanosis in severe cases

Root Cause:
A benign tumor of the heart muscle, often associated with tuberous sclerosis.

How it's Diagnosed: videos
Diagnosed with echocardiography or MRI, often in infants or children.

Treatment:
Treatment may not be required as many regress spontaneously, but surgery is needed if symptomatic.

Medications:
Everolimus (an mTOR inhibitor) may reduce tumor size in tuberous sclerosis-associated rhabdomyomas.

Prevalence: How common the health condition is within a specific population.
Rare, with most cases occurring in infants and children.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Tuberous sclerosis (genetic disorder).

Prognosis: The expected outcome or course of the condition over time.
Good; many regress spontaneously. Symptomatic cases improve after surgery.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Obstructed blood flow, arrhythmias, heart failure.

Metastatic Tumors to the Heart

Specialty: Cardiovascular

Category: Other Cardiovascular Conditions

Sub-category: Dyslipidemia

Symptoms:
shortness of breath; chest pain; arrhythmias; heart failure symptoms; pericardial effusion (fluid around the heart)

Root Cause:
Secondary invasion of the heart by cancers such as lung, breast, or melanoma.

How it's Diagnosed: videos
Diagnosed through imaging like echocardiography, CT, or MRI, and biopsy if needed.

Treatment:
Treatment focuses on palliative care, chemotherapy, or radiation for the primary cancer.

Medications:
Depends on the primary cancer type (e.g., platinum-based chemotherapy for lung cancer).

Prevalence: How common the health condition is within a specific population.
More common than primary cardiac tumors; seen in advanced cancer cases.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Advanced-stage cancer, aggressive malignancies, hematogenous spread.

Prognosis: The expected outcome or course of the condition over time.
Poor, due to advanced disease.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart failure, tamponade, arrhythmias.

Familial Hypercholesterolemia (FH)

Specialty: Diabetes and Endocrinology

Category: Metabolic Disorders

Sub-category: Dyslipidemia

Symptoms:
tendon xanthomas; xanthelasma; early corneal arcus; premature cardiovascular disease (e.g., heart attacks in young adults)

Root Cause:
Genetic mutations in LDL receptor, apolipoprotein B, or PCSK9 result in reduced clearance of LDL cholesterol from the blood.

How it's Diagnosed: videos
Blood lipid profile showing very high LDL cholesterol levels, genetic testing for mutations, and family history of premature cardiovascular disease.

Treatment:
Aggressive LDL-lowering therapy, including medications and sometimes LDL apheresis. Lifestyle changes are supportive.

Medications:
High-intensity statins (e.g., atorvastatin , rosuvastatin ) are first-line. PCSK9 inhibitors (e.g., evolocumab , alirocumab ) are often added. Ezetimibe and bile acid sequestrants may also be used. LDL apheresis may be required in severe cases.

Prevalence: How common the health condition is within a specific population.
Affects 1 in 250 individuals worldwide; homozygous FH is rarer, occurring in 1 in 1 million people.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Inherited autosomal dominant condition; risk factors exacerbate outcomes, including poor diet, smoking, and sedentary lifestyle.

Prognosis: The expected outcome or course of the condition over time.
Without treatment, most individuals develop cardiovascular disease by their 30s-40s (heterozygous) or even earlier (homozygous). With treatment, prognosis improves significantly.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Severe atherosclerosis, early-onset coronary artery disease, myocardial infarction, stroke, and aortic stenosis.