D027 – Comprehensive Study Guide for Health Disorders and Treatments

D027 – Comprehensive Study Guide for Health Disorders and Treatments

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Western Governors University

D027 Advanced Pathopharmacological Foundations

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D027 – Comprehensive Study Guide for Health Disorders and Treatments

Genetics and Inheritance

• Autosomal Dominant: One parent has the gene/disease; 50% chance the child will inherit it.

• Autosomal Recessive: Both parents are carriers; 25% chance the child will have the disease, 50% chance the child will be a carrier.

• Cystic Fibrosis: Affects the pancreas and causes mucus buildup in the lungs.

• Trisomy 21: Known as Down Syndrome.

• Klinefelter Syndrome (XXY): Males with an extra X chromosome, resulting in some female characteristics.

• Turner Syndrome: Females missing one X chromosome.

• Alpha Thalassemia: An inherited blood disorder causing mild to severe anemia.

• Beta Thalassemia: Characterized by low hemoglobin; ferrous sulfate is contraindicated.

• Color Blindness: X-linked genetic trait passed from mother with a 50% chance; gene involved is OPN1MW on chromosome 23.

• Sickle Cell Genetics: 25% chance child has disease, 25% chance child is unaffected/non-carrier, 50% chance child is a carrier.

Epidemiology & Immunology

• Prevalence Risk: Proportion of the population affected at a given time.

• Incidence Rate: Number of new cases divided by the total population.

• Innate Immunity: Involves inflammation and increased vascular permeability.

• B & T Lymphocytes: Key components of the immune response.

Oncology

• Primary Malignant Tumor: Characterized by lack of cellular organization.

• Glucocorticoids: Used with other agents to treat lymphoid tissue cancers like leukemia; directly toxic to lymphoid tissues.

• Selective Estrogen Receptor Modulators (SERM): Used for hormone receptor-positive advanced breast cancer (e.g., Tamoxifen reduces risk and recurrence).

Cardiovascular Diseases

• Heart Failure (HF): Ventricle unable to fill or eject blood adequately; heart can’t meet body’s metabolic demands.

• Congestive Heart Failure (CHF): Heart fails to keep up with metabolic needs; causes volume overload in lungs.

• Left Ventricular Dysfunction: Reduced ejection fraction; problem ejecting blood.

• Normal Ejection Fraction: 55–60% blood pumped per heartbeat.

• Ejection Fraction of 50%: Considered preserved.

• Diastolic CHF: Preserved ejection fraction; issue with filling.

• Systolic CHF: Reduced ejection fraction; issue with ejecting blood.

• Left-sided CHF: Signs include pulmonary congestion, jugular vein distention, fluid overload, S3 heart sound. Leading cause of right-sided CHF.

• BNP Test: Gold standard lab test to diagnose CHF.

• Echocardiogram: Diagnostic tool to evaluate heart structure and function.

Heart Failure Stages & Management

• Stage A HF: At risk, no structural disease or symptoms. Co-morbidities include hypertension, atherosclerosis, diabetes, metabolic syndrome, cardiotoxic exposure, family history.

  • Goals: Control hypertension, smoking cessation, exercise, lipid management, limit alcohol/drugs, manage metabolic syndrome.

  • Meds: ACE inhibitors or ARBs (e.g., losartan, benicar).

• Stage B HF: Structural heart disease present, no symptoms.

  • Co-morbidities: Prior MI, LV hypertrophy, low EF, valvular disease.

  • Goals: Meds include ACE inhibitors or ARBs, beta blockers, implantable defibrillators.

• Stage C HF: Structural disease with symptoms (shortness of breath, fatigue).

  • Management: Salt restriction, diuretics, ACE inhibitors, beta blockers; some may need aldosterone antagonists, ARBs, digitalis, hydralazine/nitrates, pacing devices, defibrillators.

• Stage D HF: Refractory HF requiring specialized interventions.

  • Presentation: Severe symptoms at rest, recurrent hospitalizations.

  • Management: End-of-life care, transplant, mechanical support, experimental treatments.

Ischemic Heart Disease & Angina

• Presentation: Chest pain/discomfort (neck/jaw/chest), worse with exertion, abnormal heart sounds, arrhythmias.

• Stable Angina Goal: Reduce cardiac oxygen demand.

• Medications: Nitroglycerin (first choice), beta blockers (especially if effort-induced angina).

• Nitroglycerin Dose: Sublingual, acts within 5 minutes, max 3 doses.

• Cardiac Glycosides (Digoxin): Increase heart contractility; risk of dysrhythmias; therapeutic level 0.5–0.8 ng/ml; always check apical pulse before administering.

Anticoagulants & Antiplatelets

• Goal: Inactivate and suppress thrombin formation.

• Warfarin (Coumadin): Oral, prevent clots; start at half dose.

• Others: Heparin, Lovenox; caution with bleeding risk.

Respiratory Diseases

• Pneumonia Pathophysiology: Pathogen invades airway, causes inflammation and fluid buildup, leading to impaired gas exchange and hypoxia.

• Diagnosis: Chest X-ray shows diffuse whitening (viral) or patchy consolidation (bacterial).

• Emphysema: Alveolar wall destruction causing air trapping and lung hyperinflation.

• Bronchitis: Excess mucus and smooth muscle hypertrophy.

• Asthma: Chronic inflammation causing reversible bronchial obstruction; treated with beta agonists and steroids.

Asthma and COPD Treatment

• Foundation Medications: Glucocorticosteroids (Pulmicort, Flovent) for long-term control. Oral steroids tapered gradually.

• Bronchodilators (Beta2-Agonists): Symptomatic relief, used PRN during attacks (Albuterol), long-acting forms combined with steroids.

Musculoskeletal

• Back Pain: No imaging needed first 4-6 weeks unless neurological symptoms present. Use NSAIDs and rest. Major reason for PCP visits.

Endocrine Disorders

• Types: Diabetes, Acromegaly (GH excess, physical changes), Addison’s (adrenal hormone deficiency), Cushing’s (high cortisol), Graves’ (hyperthyroidism).

• Thyroid Disorders:

  • TSH Normal: 0.4–4.0 μU/mL; treated range 0.5–3.0 μU/mL.

  • Hypothyroidism: Fatigue, cold intolerance, dry skin, low HR/temp.

  • Treatment: Levothyroxine on empty stomach.

  • Hashimoto’s: Autoimmune hypothyroidism with weight gain and fatigue.

  • Hyperthyroidism: High T3/T4, anxiety, tachycardia, insomnia.

  • Graves’ Disease: Common in women 20–40; treated with antithyroid drugs, iodine, beta blockers.

  • Thyroid Storm: Severe hyperthyroidism triggered by illness; treat with Propylthiouracil and supportive care.

Medications & Treatments

• Histamine 1 Antihistamines: Relieve allergies, cause sedation, dry mouth, urinary issues. Second generation are non-sedating.

• Histamine 2 Receptor Antagonists: Reduce gastric acid, treat ulcers.

• HTN Stages:

  • Stage 1: 130-139/80-89 mmHg

  • Stage 2: >140/90 mmHg

• Post-Heart Attack Medication: Beta blockers for 6 months.

• Ischemic Vascular Disease Meds: Aspirin or antithrombotics.

• Cervical Cancer Screening: 21–64 years cytology every 3 years; 30–64 cytology + HPV every 5 years.

Infectious Diseases and Vaccinations

• PPD Test: Check after 48–72 hours; >10 mm induration positive. Vaccinated individuals may have false positives; avoid repeated skin testing.

• Pneumonia CURB-65 Score: Guides hospitalization need.

• Antibiotics in Pregnancy for UTI: Fosfomycin single dose or cephalexin preferred; avoid nitrofurantoin and Bactrim.

Neurological & Autoimmune Disorders

• Myasthenia Gravis: Muscle weakness, drooping eyelids; treated with corticosteroids and cholinesterase inhibitors (neostigmine).

• Side Effects of Cholinesterase Inhibitors: Excess salivation, urinary urgency, muscle spasms, bradycardia.

Other Important Conditions

• POTS: Postural tachycardia syndrome diagnosed with tilt test; treatment includes fluid/salt intake, meds like Florinef.

• G6PD Deficiency: X-linked hemolytic anemia; avoid certain foods and drugs like fava beans, mothballs, sulfa drugs.

• Crohn’s Disease: Autoimmune inflammation anywhere in GI tract; diagnosis by labs, imaging, colonoscopy; treated with steroids, immunosuppressants, surgery.

• Sickle Cell Crisis: Managed with hydration, heat, oxygen, pain control.