Gen Path Exam 1 - Vascular Path and Categories of Diseases Flashcards
What disease category?
Immune Thrombocytopenic Purpura
Immune-mediated
What disease category?
Hemophilia A
Developmental
What disease category?
Hemophilia B
Developmental
What disease category?
Von Willebrand Disease
Developmental
What disease category?
Vitamin K Deficiency
Metabolic
What disease category?
Thrombosis
Injury
What disease category?
Hypercoagulable State
Developmental
Immune-mediated
Metabolic
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Mutations in factor V
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Antithrombin III deficiency
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Protein C or S deficiency
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Fibrinolysis defects
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Homocysteinemia
Both
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Allelic variations in prothrombin levels
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Mutations in methyl tetra hydro folate gene
Primary (genetics)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Prolonged bed rest or immobilization
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Tissue damage (surgery, fracture, burns)
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Cancer
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
MI, prosthetic cardiac valves
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Dessemianted intravascular coagulation
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Heparin induced thrombocytopenia
Secondary (acquired)
Primary (genetics) or secondary (acquired) etiology for hypercoagulable state?
Antiphospholipid antibody syndrome
Secondary (acquired)
What disease category?
Embolism
Injury
What disease category?
Hypertension
Injury
What disease category?
Arterioscleorsis
Injury
What disease category?
Atherosclerosis
Injury
What disease category?
Thrombosis
Injury
What disease category?
Hyperlipidemia
Metabolic
What disease category?
Aortic dissection
Injury
What disease category?
Aneurysm (abdominal aortic and thoracic aortic)
Injury
Developmental
What disease category?
Hemangioma
Neoplastic
What disease category?
Angiosarcoma
Neoplastic
What disease category?
Kaposi Sarcoma
Neoplastic
What disease category?
Giant Cell Arteritis
Immune-mediated
What disease category?
Granulomatosis w/ Polyangitis
Immune-mediated
What disease category?
Coronary artery disease
Ischemic heart disease
What disease category?
Angina pectoris
Ischemic heart disease
What disease category?
MI
Ischemic heart disease
What disease category?
Chronic ischemic heart disease
Ischemic heart disease
What disease category?
Congestive heart disease
Developmental
What disease category?
Nonbacterial thrombotic endocarditis
Developmental
What disease category?
Arrhythmias
Developmental
What disease category?
Atrial septal defect
Congenital
What disease category?
Patent foramen ovale
Congenital
What disease category?
Ventricular septal defect
Congenital
What disease category?
Patent ductus arteriosus
Congenital
What disease category?
Coarctation of aorta
Congenital
What disease category?
Transposition of great arteries
Congenital
What disease category?
Tetralogy of fallot
Congenital
What disease category?
Mitral valve prolapse
Valvular heart disease
What disease category?
Mitral stenosis
Valvular heart disease
What disease category?
Mitral regurgitation
Valvular heart disease
What disease category?
Aortic regurgitation
Valvular heart disease
What disease category?
Infective endocarditis
Infectious
What disease category?
Hypertrophic cardiomyopathy
Myocardial disease
What disease category?
Aortic (valve) stenosis
Valvular heart disease
What disease category?
Rheumatic fever
Immune-mediated
What disease category?
Dilated cardiomyopathy
Myocardial disease
What disease category?
Restrictive cardiomyopathy
Myocardial disease
What disease category?
Hydropericardium
Pericardial disease
What disease category?
Hemopericardium
Pericardial disease
What disease category?
Acute pericarditis
Pericardial disease
What disease category?
Myxoma
Neoplastic
What disease category?
Rhabdomyoma
Neoplastic
What disease category?
Metastatic tumors
Neoplastic
What disease?
ABs against platelet membrane glycoproteins IIb/IIIa or Ib/IX complexes
Immune thrombocytopenic purpura
What disease?
Affects women between 20-40
Immune thrombocytopenic purpura
What disease?
Clinical presentation includes petechiae, easy bruising, epitaxis (nose bleed), gingival bleeding, hemorrhage after minor trauma
Immune thrombocytopenic purpura
What disease?
Tx includes immunosuppressive drugs and splenectomy (spleen is site of anti-platelet AB production)
Immune thrombocytopenic purpura
What disease?
Deficiency of factor VIII; X-linked recessive
Hemophilia A
What diseases?
Clinical presentation includes easy bruising, massive hemorrhage after trauma, spontaneous bleeding into joints
Hemophilia A and B
What disease?
Diagnosed by prolonged partial thromboplastin time
Hemophilia A and B
Von Willebrand Disease
What disease?
Most common inherited bleeding disorder
Von Willebrand Disease
What disease?
Clinical presentation can be mild, mucosal bleeding, easy bruising
Von Willebrand Disease
What disease?
Tx is desmopressin
Von Willebrand Disease
(desmopressin increases vWF and factor VIII)
What disease?
Caused by inadequate dietary intake, malabsorption, and inhibition of certain meds (ex: warfarin)
Vitamin K deficiency
What disease?
Demographics include newborns, long-term AB use, malabsorption syndromes
Vitamin K deficiency
What disease?
Diagnosed by prolonged partial thromboplastin time and low levels of vitamin K dependent clotting factors
Vitamin K deficiency
What disease?
Tx is vitamin K supplements and fresh frozen plasma
Vitamin K deficiency
What are the vitamin K dependent clotting factors?
Prothrombin
Factor VII, IX, X
What disease?
Caused by complete or partial obstruction of vessel by blood clot and Virchow’s triad
Thrombosis
What is Virchow’s triad?
Endothelial injury
Stasis or turbulent blood flow
Hypercoagulability
What disease?
Affects anyone; more common with increased age, atherosclerosis, and immobility
Thrombosis
What disease?
Tx is anticoagulant
Thrombosis
What disease?
Arterial: ischemia and infarction of tissue, MI, stroke, peripheral artery disease
Venous: pain, swelling, redness of affected limb, risk of pulmonary embolism
Thrombosis
What disease?
Tx is anticoagulant, thrombolytic therapy, surgical intervention, risk factor modification (stop smoking, manage hypertension)
Thrombosis
What disease?
Clinical presentation is recurrent thrombosis
Hypercoagulable state
What disease?
Diagnosed by genetic testing, antiphospholipid AB testing, and increased levels of procoagulant factors
Hypercoagulable state
What disease?
Tx is long term anticoagulation therapy and managing underlying condition
Hypercoagulable state
What disease?
Caused by blood clot dislodging and obstructing a vessel; can also occur with fat, air, amniotic fluid
Embolism
What disease?
Risk factors are DVT, surgery, trauma
Embolism
What disease?
Clinical presentation of pulmonary is shortness of breath, chest pain, cough
Clinical presentation of stroke is sudden weakness or numbness on one side, difficulty speaking
Embolism
What disease?
Diagnosed by CT pulmonary angiography, MRI, CT, echocardiography
Embolism
What disease?
Tx is anticoagulation therapy, thrombolytic therapy, surgical intervention
Embolism
What disease?
Primary: decreased renal Na+ excretion, increased vascular resistance, smoking, stress, obesity, inactivity, high dietary Na+
Secondary: primary renal disease, renal artery narrowing, adrenal disorders
Hypertension
What disease?
Affects over 25% of population
Hypertension
Normal BP
<120/80
Elevated BP
120-129/<80
Stage 1 hypertension BP
130-139/80-89
Stage 2 hypertension BP
140/90 or greater
What disease?
Tx is meds, weight loss, Na+ restriction, increase activity, limit alcohol, dietary changes
Hypertension
What disease?
Caused by hardening of arteries, arterial wall thickening, loss of elasticity, atherosclerosis (most common)
Arteriosclerosis
What disease?
Caused by atheromatus plaques on vessel walls impinging on lumen and can calcify
Atherosclerosis
What disease?
Risk factors are genetics, family history, aging, males, hyperlipidemia, hypertension, smoking, diabetes, inflammation
Atherosclerosis
What disease?
Diagnosed by coronary Ca2+ stain
Atherosclerosis
What disease?
Tx is to tackle modifiable risk factors such as decreasing cholesterol, increasing omega 3 fatty acids, exercise, statins, treat hypertension/diabetes, quit smoking
Atherosclerosis
What is the most common cause of death in the US?
Sequelae of atherosclerosis
Name 3 possible sequelae of atherosclerosis?
Stenosis
Plaque rupture or erosion
Weaken medial wall
Describe the pathogenesis of atherosclerosis
Chronic damage to endothelium
Lipids leak in
Inflammatory response makes damaged endothelium sticky
Leukocytes and monocytes adhere
Macrophages ingest lipids + create foam cells
SM proliferation
Collagen + ECM deposition
What are the 3 parts of the natural history of atherosclerosis?
Fatty streaks
Atherosclerotic plaque
Advanced/vulnerable plaque
What disease?
Caused by increased lipids in blood, primary (genetic), secondary (diabetes, obesity, lifestyle)
Hyperlipidemia
What disease?
Common in adults but more prevalent with aging, poor diet, and lack of activity
Hyperlipidemia
What disease?
Clinical presentation is asymptomatic, heart attack, stroke, xanthelasma (patch on eyelid)
Hyperlipidemia
What disease?
Diagnosed by lipid panel (cholesterol, LDL, HDL, triglycerides)
Hyperlipidemia
What disease?
Tx is meds, modify lifestyle (decrease fats and cholesterol, increase fiber and omega 3)
Hyperlipidemia
What disease?
Caused by a tear in intima layer of aorta, allowing blood to flow btwn layers of vessel wall
Aortic dissection
What disease?
More common in men btwn 40-60, young pts with CT abnormalities (Marfan syndrome), smokers, and pts with hypertension
Aortic dissection
What disease?
Clinical presentation is severe sudden chest pain that may radiate to back
Aortic dissection
What disease?
Tx is rapid BP control and surgical repair
Aortic dissection
What disease?
Caused by dilation of blood vessels or heart, occurs when structural integrity of arterial media is compromised
Aneurysm
What disease?
Affects those with inadequate CT synthesis (genetic), excessive CT degradation (increased MMPs), loss of SM cells or change in phenotype (atherosclerosis, hypertension)
Aneurysm
This type of aneurysm affects all 3 layers of artery
True aneurysm
This type of aneurysm is a wall defect that leads to hematoma
False aneurysm
What disease?
Caused by localized dilation of abdominal aorta, most often due to atherosclerosis, less common causes are genetics, infection, trauma
Abdominal aortic aneurysm
What disease?
Affects men > 50; risk factors are smoking, hypertension, atherosclerosis
Abdominal aortic aneurysm
What disease?
Asymptomatic until rupture; sudden, severe pain indicates rupture
Abdominal aortic aneurysm
What diseases?
Tx is monitoring or surgical repair when large or symptomatic
Abdominal aortic aneurysm
Thoracic aortic aneurysm
What disease?
Caused by dilation of thoracic aorta and most often due to hypertension, Marfan syndrome, bicuspid aortic valves
Thoracic aortic aneurysm
What disease?
Consequences:
Obstruction of branch of aorta
Embolism
Impingement on adjacent structure
Abdominal mass
Rupture
Abdominal aortic aneurysm
What disease?
Common in older men; risk factors are smoking, hypertension, CT disorder
Thoracic aortic aneurysm
What disease?
Can be asymptomatic or cause chest pain, shortness of breath, impinge on nearby structures (hoarseness, can’t swallow, cough), or rupture
Thoracic aortic aneurysm
What disease?
Diagnosed by CT angiography
Thoracic aortic aneurysm
What disease?
Caused by benign tumor composed of blood vessels; often congenital
Hemangioma
What disease?
Common in infancy and more often affects females
Hemangioma
What disease?
Clinical presentation is red/purple, flat to nodular, and usually regresses by age 10
Hemangioma
What disease?
Diagnosed by clinical exam, imaging, or biopsy
Hemangioma
What disease?
Tx is observation, laser therapy, surgical excision, meds
Hemangioma
What disease?
Malignant tumor arising from endothelial cells
Angiosarcoma
What disease?
Affects older adults; risk factors are prior radiation, chronic lymphedema, and exposure to specific chemicals
Angiosarcoma
What disease?
Clinical presentation is rapidly growing mass, may ulcerate and bleed, and has predilection for skin, liver breast (but can occur anywhere)
Angiosarcoma
What disease?
Tx is surgical excision, chemo, radiation
Angiosarcoma
What disease?
Caused by vascular malignancy and infection with HHV8
Kaposi sarcoma
What disease?
Most commonly seen in HIV/AIDS, affects mostly men, classic form seen in Med, Eastern Europe, Central Equatorial Africa, endemic form seen in Africa, iatrogenic form seen in recipients of solid organ transplants
Kaposi sarcoma
What disease?
Clinical presentation is multiple blue/purple macules, plaques, and nodules on face/oral mucosa and has predilection for hard palate, gingiva, tongue, and skin
Kaposi sarcoma
What disease?
Tx involves managing HIV/AIDS and chemo
Kaposi sarcoma
What disease?
Caused by chronic inflammatory disorder, T-cell mediated immune response, affects temporal artery
Giant cell arteritis
What disease?
Affects adults > 50
Giant cell arteritis
What disease?
Clinical presentation is new facial pain, headache, fever, fatigue, visual disturbance, rarely tongue necrosis, irreversible vision loss if untreated
Giant cell arteritis
What disease?
Diagnosed by elevated C-reactive protein and erythrocyte sedimentation rate; temporal artery biopsy
Giant cell arteritis
What does the temporal artery biopsy show in giant cell arteritis?
Granulomatous inflammation with multi-nucleated giant cells
What disease?
Tx is immediate high dose corticosteroids
Giant cell arteritis
What disease?
Caused by hypersensitivity response (inhaled infectious or environmental antigen)
Granulomatosis with polyangitis
What disease?
Affects any age, but often middle aged adults
Granulomatosis with polyangitis
What disease?
Clinical presentation:
URT = sinusitis, nasal ulcers, epistaxis
LRT = cough, chest pain
Renal = hematuria, proteinuria, glomerulonephritis
General = fever, weight loss, arthralgia
Oral = strawberry gingivitis, vascular erythematous gingival lesion
Granulomatosis with polyangitis
What disease?
Diagnosed by biopsy showing necrotizing granulomas and vasculitis; elevated anti-neutrophil cytoplasmic ABs
Granulomatosis with polyangitis
What disease?
Tx is steroids and other immunosuppressive drugs
Granulomatosis with polyangitis
What disease?
Low platelet count, less than 150,000 platelets/ul
(normal is 150,000 - 450,000)
Thrombocytopenia
What disease?
Causes include decreased production (bone marrow dysfunction, drug related, HIV), increased destruction (auto-immune or non-immunologic), hypersplenism, or multiple transfusions
Thrombocytopenia
What disease?
Post-traumatic bleeding risk when less than 50,000 platelets/ul
Thrombocytopenia
