Condition Lookup

Hypertension (High Blood Pressure)

Specialty: Genetics

Category: Single-Gene Disorders (Mendelian Inheritance)

Sub-category: Polygenic and Multifactorial Disorders

Symptoms:
often asymptomatic; headaches; shortness of breath; nosebleeds (in severe cases)

Root Cause:
Persistent elevation of blood pressure due to genetic predisposition, environmental factors, and secondary causes (e.g., kidney disease, endocrine disorders).

How it's Diagnosed: videos
Blood pressure measurements, repeated over time; additional tests for secondary causes.

Treatment:
Lifestyle changes (dietary adjustments like reduced salt intake, weight loss, exercise) and antihypertensive medications.

Medications:
Diuretics (e.g., hydrochlorothiazide ) to reduce fluid retention. ACE inhibitors (e.g., enalapril ) or ARBs (e.g., losartan ) to relax blood vessels. Calcium channel blockers (e.g., amlodipine ). Beta-blockers (e.g., propranolol ).

Prevalence: How common the health condition is within a specific population.
Affects about 1.28 billion adults worldwide, with a higher prevalence in older populations.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, obesity, high salt intake, physical inactivity, stress, alcohol consumption, age.

Prognosis: The expected outcome or course of the condition over time.
With proper management, patients can maintain normal blood pressure and prevent complications. Uncontrolled hypertension increases the risk of cardiovascular and renal diseases.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Stroke, heart attack, heart failure, kidney failure, vision loss, aneurysms.

Coronary Artery Disease

Specialty: Genetics

Category: Single-Gene Disorders (Mendelian Inheritance)

Sub-category: Polygenic and Multifactorial Disorders

Symptoms:
chest pain or discomfort (angina); shortness of breath; fatigue; heart attack symptoms such as severe chest pain, sweating, and nausea

Root Cause:
Buildup of plaque (atherosclerosis) in the coronary arteries, leading to reduced blood flow to the heart. Genetic predispositions combined with lifestyle factors exacerbate the risk.

How it's Diagnosed: videos
Electrocardiogram (ECG), stress tests, echocardiography, coronary angiography, and blood tests for cholesterol and cardiac enzymes.

Treatment:
Lifestyle changes (diet, exercise, smoking cessation), medications, and surgical interventions like angioplasty or coronary artery bypass grafting (CABG).

Medications:
Statins (e.g., atorvastatin ) to lower cholesterol. Antiplatelets (e.g., aspirin , clopidogrel ) to prevent clot formation. Beta-blockers (e.g., metoprolol ) to reduce heart workload. ACE inhibitors (e.g., lisinopril ) to lower blood pressure and protect the heart. Nitroglycerin for angina relief.

Prevalence: How common the health condition is within a specific population.
The leading cause of death worldwide, affecting millions annually. Prevalence increases with age.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, smoking, high cholesterol, high blood pressure, diabetes, obesity, physical inactivity.

Prognosis: The expected outcome or course of the condition over time.
With treatment and lifestyle modifications, CAD can be managed, though it remains a lifelong condition. Untreated, it can lead to fatal heart attacks.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart attack, heart failure, arrhythmias, sudden cardiac death.

Type 1 and Type 2 Diabetes Mellitus

Specialty: Genetics

Category: Single-Gene Disorders (Mendelian Inheritance)

Sub-category: Polygenic and Multifactorial Disorders

Symptoms:
increased thirst and urination; unexplained weight loss; fatigue; blurred vision; slow healing sores or frequent infections; hunger (especially in type 1); tingling or numbness in extremities (especially in type 2)

Root Cause:
Type 1 is caused by autoimmune destruction of insulin-producing beta cells in the pancreas. Type 2 is due to insulin resistance and relative insulin deficiency, often influenced by genetic and environmental factors.

How it's Diagnosed: videos
Blood tests measuring fasting glucose levels, oral glucose tolerance tests (OGTT), hemoglobin A1c levels, and autoantibody tests (for Type 1).

Treatment:
Lifestyle changes (diet, exercise), blood sugar monitoring, insulin therapy (for Type 1), oral hypoglycemic agents, and sometimes insulin (for Type 2).

Medications:
Type 1

Prevalence: How common the health condition is within a specific population.
Type 1 affects about 5-10% of individuals with diabetes. Type 2 accounts for 90-95% of diabetes cases globally.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Type 1

Prognosis: The expected outcome or course of the condition over time.
Manageable with proper treatment; Type 1 requires lifelong insulin, and Type 2 can often be managed or reversed with lifestyle changes and medication.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Heart disease, stroke, kidney disease, retinopathy, neuropathy, and limb amputation due to poor circulation and infections.

Cleft Lip and/or Palate

Specialty: Genetics

Category: Single-Gene Disorders (Mendelian Inheritance)

Sub-category: Polygenic and Multifactorial Disorders

Symptoms:
visible opening in the lip and/or roof of the mouth; difficulty feeding; speech problems; ear infections and hearing loss

Root Cause:
Failure of facial structures to fuse during embryonic development due to genetic and environmental influences.

How it's Diagnosed: videos
Physical examination at birth, prenatal ultrasound in some cases.

Treatment:
Surgical correction (lip repair around 3-6 months, palate repair around 9-18 months), speech therapy, and orthodontic care.

Medications:
No direct medications; antibiotics for associated infections and analgesics post-surgery.

Prevalence: How common the health condition is within a specific population.
Affects 1 in 700 births globally, with variation based on ethnicity and geography.

Risk Factors: Factors or behaviors that increase the likelihood of developing the condition.
Family history, maternal smoking or alcohol use, folic acid deficiency, certain medications during pregnancy.

Prognosis: The expected outcome or course of the condition over time.
Excellent with surgical intervention and multidisciplinary care.

Complications: Additional problems or conditions that may arise as a result of the original condition.
Speech and language delays, dental abnormalities, psychosocial challenges.