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

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

Common Familial Diseases

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

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

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

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

Common Familial Diseases

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

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

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

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

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

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

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

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

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