D027 Study Guide – Advanced Pathopharmacology Notes

D027 Study Guide – Advanced Pathopharmacology Notes

1. What is Celiac Disease and how is it diagnosed and managed?

Celiac disease is a condition caused by gluten intolerance, which results in damage to the lining of the small intestine, specifically the duodenum and jejunum. This damage impairs nutrient absorption and leads to various gastrointestinal and systemic symptoms. Common signs include abdominal pain, bloating, and diarrhea characterized by pale, greasy, and foul-smelling stools. Malnutrition symptoms such as rickets, anemia, and occult blood in stool may appear. Electrolyte imbalances like hypomagnesemia and hypocalcemia can cause neurological symptoms including irritability, tremors, convulsions, tetany, and bone-related issues like osteomalacia and bone pain.

Laboratory diagnosis involves measuring serologic antibodies such as IgA tissue transglutaminase (IgA-tTg), IgA endomysial antibodies (IgA-EMA), and total IgA. In cases of IgA deficiency, IgG antibodies (IgG-DGP, IgG-AGA) are assessed. Confirmatory diagnosis includes HLA-DQ2/DQ8 genotyping and a duodenal biopsy obtained via endoscopy.

Management primarily revolves around a strict gluten-free diet, avoiding grains like barley, rye, oats, and wheat (collectively remembered as BROW).

2. What are the key features of Sjogren’s Syndrome?

Sjogren’s syndrome is predominantly seen in older women, particularly those with rheumatoid arthritis (RA) or systemic lupus erythematosus (SLE). It is characterized by dryness of the eyes and mouth. Diagnostic confirmation is supported by positive SSA and SSB antibody tests.

3. Which herbal supplements have pharmacologic effects and what precautions are necessary?

Various herbs are used for different health conditions, but many have drug interactions and contraindications:

4. What is Hypoplastic Left Heart Syndrome (HLHS), its symptoms, diagnosis, and treatment?

HLHS is a congenital defect characterized by underdevelopment of the left ventricle, mitral and aortic valves, and ascending aorta, with an associated atrial septal defect. Fetal shunts such as the patent ductus arteriosus (PDA) and patent foramen ovale (PFO) are critical for survival.

Symptoms include cyanosis, pallor, cool skin, tachycardia, poor feeding, and weak pulses.

Diagnosis relies on echocardiography and prenatal ultrasound.

Treatment consists of a three-stage surgical approach:

• Norwood procedure (1-2 weeks old)

• Glenn procedure (4-6 months)

• Fontan procedure (18-36 months)

Survival rates are about 70% at 3 to 5 years post-first surgery, and 90% if the child survives past 12 months. Medical management includes tube feeding, cardiac support, blood pressure regulation, and diuretics.

5. How does the parathyroid gland function, and what disorders affect it?

The parathyroid glands regulate calcium levels through the secretion of parathyroid hormone (PTH). Elevated PTH causes calcium to be released from bones, potentially leading to bone loss.

Normal lab values: Calcium 8.6-10.3 mg/dL, PTH 11-51 pg/mL.

6. What causes Hutchinson-Gilford Progeria Syndrome and what are its manifestations?

Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a mutation in the LMNA gene, resulting in production of an abnormal progerin protein that destabilizes the nuclear envelope. This leads to rapid aging in children, typically appearing at ages 1-2.

Symptoms include short stature, slow hair growth or alopecia, joint problems, skin wrinkling, failure to thrive, and delayed dentition. Treatments focus on symptom management with statins, nitroglycerin, NSAIDs, bone-strengthening medications, and supportive therapy. The life expectancy is usually 13-20 years, reflecting an accelerated aging process approximately 10 times faster than normal.

7. What alternatives exist for gabapentin in diabetic neuropathy treatment?

For diabetic neuropathy, alternatives to gabapentin include duloxetine and pregabalin, which are effective in managing neuropathic pain.

8. How does hydrotherapy assist in neurological conditions?

Hydrotherapy has been shown to help manage symptoms in neurological diseases such as Multiple Sclerosis and Myasthenia Gravis, improving muscle strength and reducing fatigue.

9. How can pneumothorax and hemothorax be distinguished clinically?

Both conditions cause reduced or absent lung sounds. However:

10. What are the diagnostic methods and treatments for Tuberculosis (TB)?

TB diagnosis involves the tuberculin skin test (PPD) and imaging such as chest X-rays or CT scans showing characteristic white spots. First-line medications include isoniazid, rifampin (which should be avoided with oral contraceptives), ethambutol, and pyrazinamide.

11. What laboratory tests are used for thyroid disorders, and how are these conditions treated?

Key laboratory values for thyroid function include:

Autoimmune thyroid diseases include:

• Hashimoto’s thyroiditis (hypothyroidism) marked by elevated thyroid peroxidase (TPO) and thyroglobulin (Tg) antibodies.

• Graves’ disease (hyperthyroidism).

Symptoms and Treatments:

12. How do Crohn’s Disease and Ulcerative Colitis differ?

13. What are the risks and treatments for sickle cell disease in infants?

Infants with sickle cell disease are vulnerable to pneumococcal infections, anemia, jaundice, and pain crises. Types of crises include vaso-occlusive (pain, swelling), splenic sequestration (enlarged spleen, anemia), and aplastic crisis (sudden anemia).

Prevention involves adequate hydration and avoidance of extreme temperatures and low oxygen environments. Treatment includes intravenous fluids, analgesics, oxygen therapy, and transfusions. Hydroxyurea is used to reduce crisis frequency, while iron supplements should be avoided. Newborn prophylaxis consists of penicillin, folic acid supplementation, and vaccinations.

14. What medications are safe for urinary tract infections (UTIs) during pregnancy and childhood?

15. Which immunizations are recommended or contraindicated during pregnancy?

Recommended vaccines during pregnancy include influenza, Tdap (administered between 27-36 weeks gestation), pneumococcal, hepatitis A and B, and meningococcal vaccines. Varicella and MMR vaccines are contraindicated due to risks to the fetus.

16. What are the clinical features and treatment options for Varicella (chickenpox)?

Varicella is a highly contagious viral infection presenting with an itchy vesicular rash typically starting on the chest, back, and face. Patients may experience low-grade fever and occasionally abdominal pain. Treatment includes antiviral therapy (acyclovir), intravenous immunoglobulin (IVIG), acetaminophen (ibuprofen should be avoided), calamine lotion, and soothing baths.

17. What medications are used for schizophrenia, and what are their side effects?

Schizophrenia presents with positive symptoms (hallucinations, delusions) and negative symptoms (anhedonia, flat affect).

Vitamins such as folic acid and thiamine (B1) may provide supportive benefits.

18. How does the BCG vaccine affect the PPD skin test?

The Bacillus Calmette-Guérin (BCG) vaccine often causes an induration greater than 10 mm, but this does not translate into a positive purified protein derivative (PPD) test. The skin test should be read 48-72 hours after injection.

19. How is benign prostatic hyperplasia (BPH) treated?

BPH is commonly treated with tamsulosin (Flomax), an alpha-1 adrenergic antagonist. Patients should be educated about the potential for hypotension.

20. What are the clinical signs of congestive heart failure (CHF) and how is it evaluated?

CHF manifests differently depending on which side of the heart is affected:

Ejection fraction (EF) values categorize heart failure:

• Normal EF: 55-70%

• Reduced EF (<40%): systolic failure

• Preserved EF (40-49%): diastolic failure

Diagnosis includes BNP testing (values >100 suggest heart failure) and echocardiography.

21. How is pleural effusion identified and treated?

Symptoms of pleural effusion include chest pain, dry cough, dyspnea, orthopnea, and fever. Diagnostic tools include chest X-rays, CT scans, and ultrasound. Treatment options are thoracentesis, chest tube insertion, diuretics, antibiotics, and supplemental oxygen.

22. What is the role of antihypertensive and insulin medications in diabetes management?

In diabetes, ACE inhibitors (e.g., captopril) and angiotensin receptor blockers (ARBs) are used to manage hypertension and protect renal function. Insulin types vary by onset and duration and include Regular, NPH, and rapid-acting forms like Lispro.

Hyperglycemia and diabetic ketoacidosis present with symptoms such as fruity breath, polyuria, fatigue, and confusion.

23-63. Additional Key Concepts

For brevity, here is a brief summary table for remaining topics:

References

• Abbas, A. K., Lichtman, A. H., & Pillai, S. (2019). Cellular and Molecular Immunology (9th ed.). Elsevier.

• Brunton, L. L., Hilal-Dandan, R., & Knollmann, B. C. (2018). Goodman & Gilman’s The Pharmacological Basis of Therapeutics (13th ed.). McGraw-Hill Education.

• Fauci, A. S., Kasper, D. L., Hauser, S. L., Jameson, J. L., Loscalzo, J., & Harrison, T. R. (2018). Harrison’s Principles of Internal Medicine (20th ed.). McGraw-Hill Education.

• Katzung, B. G., Trevor, A. J., & Masters, S. B. (2022). Basic and Clinical Pharmacology (15th ed.). McGraw-Hill.

• Kumar, V., Abbas, A. K., & Aster, J. C. (2021). Robbins Basic Pathology (10th ed.). Elsevier.