1. Common Familial Diseases
Genetic risk: passes through generations
Familial tendency: cluster of diseases in family groups despite lack of gene evidence
Autosomal recessive: must inherit two copies of a particular gene
Autosomal dominant: needs to only inherit one copy of a particular gene

2. Common Familial Diseases
Immunologic disorders
Hyper- or hypo activity of immune system
Most that exhibit familial tendencies involve an overactive immune system
Allergies: acquired following initial exposure
Asthma: chronic inflammatory condition

3. Common Familial Diseases

4. Common Familial Diseases
Cancer
Large number of malignant growths
Prognosis depends on extent of spread and effectiveness of treatment
Lung:
Leading cause of death due to cancer

5. Common Familial Diseases
Cancer (cont’d)
Breast:
Most common type of cancer in women
Symptoms: small painless lump, change in nipple, discharge, pain, and swollen lymph glands
Colorectal:
Third most common type of cancer
Symptoms : minimal amount of blood in stools

6. Common Familial Diseases
Endocrine disorders
Diabetes mellitus: chronic disorder of metabolism
Ketoacidosis (type 1): insulin dependent
No ketoacidosis (type 2): non-insulin dependent

7. Common Familial Diseases
Hematologic disorder
Hemolytic anemia: destruction of red blood cells
Hemophilia: excessive bleeding
Hemochromatosis: body absorbs more iron than needed

8. Common Familial Diseases

9. Common Familial Diseases
Cardiovascular disorders
Long QT syndrome: cardiac conduction system abnormality
Consider syncope a life threat if:
Exercise-induced syncope
Syncope associated with chest pain
History of syncope
Syncope associated with startle
Startle =sudden

10. Common Familial Diseases
Cardiovascular disorders (cont’d)
Cardiomyopathy: diseases of the myocardium
Leads to heart failure, acute myocardial infarction, or death

11. Common Familial Diseases
Cardiovascular disorders (cont’d)
Mitral valve prolapse: mitral valve leaflets balloon into the left atrium during systole
Coronary heart disease: caused by impaired circulation to the heart
Hypertension: elevated blood pressure

12. Common Familial Diseases
Renal disorders
Gout: abnormal accumulation of uric acid
Causes destructive tissue changes
Kidney stones: masses of uric acid or calcium salts
Form in urinary system
courtesy of Leonard Crowley

13. Common Familial Diseases
Gastrointestinal disorders
Malabsorption disorders: defect in bowel wall prevents normal absorption of nutrients
Lactose intolerance: defect in enzyme lactase
Ulcerative colitis: chronic inflammatory disease of the large intestine and rectum
Crohn’s disease: chronic inflammatory disease affecting the colon and small intestine

14. Common Familial Diseases
Gastrointestinal disorders (cont’d)
Peptic ulcer disease: circumscribed erosions in the lining of the GI tract
Gallstones: stone-like masses in the gallbladder
Obesity: unhealthy accumulation of body fat
Morbid obesity: BMI greater than 40 kg/m2
Overweight: BMI of 25 to 29.9 kg/m2

15. Common Familial Diseases
Neuromuscular disorders
Huntington’s disease: characterized by progressive chorea and mental deterioration
Muscular dystrophy: group of hereditary diseases of muscular system
Duchene muscular dystrophy
Multiple sclerosis: nerve fibers of the brain and spinal cord lose myelin cover

16. Common Familial Diseases
Neuromuscular disorders (cont’d)
Alzheimer’s disease results in:
Cortical atrophy
Loss of neurons
Ventricular enlargement
courtesy of Leonard Crowley
courtesy of Leonard Crowley

17. Common Familial Diseases
Psychiatric disorders
Schizophrenia: group of mental disorders
Distortions of reality, withdrawal, and disturbances of thought, language, perception, and emotional response
Bipolar disorder: characterized by episodes of mania and depression