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Arterial and Venous Thrombosis

Chapter 122 | Part 4: Oncology and Hematology

KEY CLINICAL POINTS

  • Thrombosis is hemostasis 'at the wrong place and at the wrong time' with significant morbidity/mortality in arterial and venous diseases.
  • Arterial thrombosis is driven by vessel wall injury, platelet activation, and coagulation, while venous thrombosis is linked to stasis, hypercoagulability, and endothelial dysfunction.
  • Key risk factors include age, obesity, immobility, cancer, hormonal therapies, and genetic variants (e.g., Factor V Leiden).
  • Antiplatelet agents (aspirin, clopidogrel) and anticoagulants (heparin, DOACs) are central to management.
  • Genetic polymorphisms (e.g., CYP2C19, MTHFR) influence drug response and thrombotic risk.

1. DEFINITION & OVERVIEW

Thrombosis is hemostasis 'at the wrong place and at the wrong time' (MacFarlane). It involves obstruction of blood flow by thrombi, leading to tissue ischemia and organ damage. Arterial thrombosis is characterized by platelet-rich clots, while venous thrombosis involves fibrin-rich clots. Platelets, coagulation factors, and endothelial dysfunction are central to pathogenesis.

Table 122-2: Genetic Variation and Pharmacogenetic Responses to Platelet Inhibitors

POTENTIAL GENE ALTERED TARGET CLASS SPECIFIC DRUG
P2Y1 and P2Y12 CYP2C19, CYP3A4, CYP3A5 ADP receptor inhibitors (Clopidogrel, Prasugrel)
PlA1/A2 Receptor inhibitors Abciximab, Eptifibatide, Tirofiban
Glycoprotein IIb-IIIa Receptor inhibitors Receptor inhibitors

1.1 Platelet Function

Platelets are anucleate cells (1–5 µ m) derived from megakaryocytes. They mediate hemostasis via adhesion (GPIb-IX-V), activation (GPIIb/IIIa), and aggregation. Platelet granules release ADP, serotonin, and thromboxane A2, which amplify clot formation.

1.2 Coagulation Cascade

The coagulation cascade involves sequential enzymatic reactions converting fibrinogen to fibrin. Tissue factor (TF) exposure initiates the extrinsic pathway, while endothelial damage triggers the intrinsic pathway. Thrombin activates fibrinogen and platelets, stabilizing the clot.

2. EPIDEMIOLOGY

In 2020, heart disease caused ~1/4 of U.S. deaths (655,000). Coronary disease killed 382,820, and stroke killed 160,743. DVT/PE occurred in 1–2/1000 annually, with 300,000–600,000 new cases. 60,000–80,000 deaths annually attributed to DVT/PE. Risk factors include age, obesity, immobility, cancer, and hormonal therapies.

2.1 Incidence/Prevalence

DVT/PE incidence: 5 per 10,000 person-years in general population; 20 per 10,000 in 70–79-year-olds. 5–8% of U.S. population has genetic risk for VTE.

2.2 Risk Factors

Genetic: Factor V Leiden, Prothrombin 20210G → A, MTHFR 677C → T. Acquired: Surgery, trauma, pregnancy, obesity, immobility, cancer, antiphospholipid syndrome, hormonal therapies.

3. ETIOLOGY & PATHOPHYSIOLOGY

Arterial thrombosis: Platelet activation, endothelial damage, and coagulation. Venous thrombosis: Stasis, hypercoagulability, and endothelial dysfunction. Platelet adhesion (GPIb-IX-V binding von Willebrand factor), activation (GPIIb/IIIa), and aggregation (ADP, thromboxane) drive clot formation. Inflammation and immune activation (e.g., platelet-leukocyte aggregates) exacerbate thrombosis.

Table 122-1: Heritable Causes of Arterial and Venous Thrombosis

A. Arterial Thrombosis B. Venous Thrombosis
Platelet Receptors (b3, a2 integrins, GPIb), Redox Enzymes, MTHFR Procoagulant Proteins (Fibrinogen, Prothrombin), Anticoagulant Pathway (Factor V Leiden), Fibrinolytic Proteins (PAI-1)
Homocysteine (MTHFR 677CfiT), CYP2C19 variants Homocysteine (MTHFR 677CfiT), Antiphospholipid Syndrome

3.1 Platelet Activation

Platelet receptors (ADP, thrombin, collagen) trigger signaling via tyrosine kinase, phospholipase C, and calcium influx. GPIIb/IIIa binds fibrinogen, stabilizing aggregates. Platelet-derived cytokines and P-selectin mediate inflammation.

3.2 Coagulation Cascade

Tissue factor initiates extrinsic pathway (FVIIa-TF complex activates FX). Intrinsic pathway (contact activation) and common pathway (thrombin generation) converge. FXa and thrombin convert fibrinogen to fibrin, stabilized by FXIII.

4. CLINICAL FEATURES

Arterial: Chest pain (MI), stroke, limb ischemia. Venous: Leg swelling, pain, DVT symptoms. Complications: PE (sudden death), recurrent VTE, post-thrombotic syndrome. Inflammation: Platelet-leukocyte aggregates, immune activation (CD40L, TLRs).

4.1 Arterial Thrombosis

Myocardial infarction (chest pain), ischemic stroke (neurological deficits), peripheral artery occlusion (claudication, gangrene).

4.2 Venous Thrombosis

Deep vein thrombosis (leg swelling, pain), pulmonary embolism (sudden dyspnea, hemoptysis), post-thrombotic syndrome (chronic edema, ulcers).

5. DIFFERENTIAL DIAGNOSIS

Arterial: Aortic dissection, coronary artery spasm, embolism. Venous: DVT mimics (muscle strain, lymphedema), PE mimics (pulmonary infection, tumor). Inflammatory conditions: SLE, vasculitis.

5.1 Arterial Mimics

Aortic dissection (chest pain, hypertension), coronary artery spasm (angina), embolic events (acute stroke).

5.2 Venous Mimics

Muscle strain, lymphatic obstruction, pelvic congestion, tumor thrombosis.

6. INVESTIGATIONS & DIAGNOSIS

D-dimer (rule out PE/DVT), ultrasound (venous duplex), CT pulmonary angiography (PE). Wells score for DVT, Geneva score for PE. Genetic testing (Factor V Leiden, MTHFR).

Table 122-3: Acquired Causes of Venous Thrombosis

Surgery Trauma Antiphosp holipid Syndrome Pregnancy Long-Dista nce Travel Obesity Oral Contr aceptives/ HRT Myeloprolif erative Disorders
Neurosurge ry, Major Abdominal Surgery Trauma Antiphosph olipid Syndrome Pregnancy Long-Dista nce Travel Obesity Oral Contra ceptives/Ho rmone Repl acement Polycythem ia Vera

6.1 Diagnostic Tests

D-dimer, venous ultrasound, CT pulmonary angiography, ECG (for MI), cardiac enzymes (troponin).

6.2 Criteria

Wells score for DVT ( ≥ 3 points: high probability), Geneva score for PE ( ≥ 4 points: high suspicion).

7. MANAGEMENT & TREATMENT

Acute: Anticoagulation (heparin, LMWH, DOACs). Chronic: Warfarin, DOACs. Antiplatelet (aspirin, clopidogrel). Thrombolytics (alteplase) for massive PE. Compression stockings for post-thrombotic syndrome. Risk stratification (CHA2DS2-VASc score).

7.1 Anticoagulation

Heparin (IV), LMWH (subQ), DOACs (rivaroxaban, apixaban). Warfarin (INR 2–3). Monitor for bleeding, drug interactions.

7.2 Antiplatelet Therapy

Aspirin (81–325 mg), clopidogrel (75 mg), prasugrel, ticagrelor. Avoid in active bleeding, recent surgery.

8. PROGNOSIS & COMPLICATIONS

PE mortality: 25% in cancer patients, 15% in general population. Recurrent VTE: 30% within 10 years. Long-term risks: Post-thrombotic syndrome, chronic venous insufficiency, pulmonary hypertension. Genetic risk: 5–8% of U.S. population.

9. SPECIAL CONSIDERATIONS

Pregnancy: Low-dose aspirin, LMWH. Elderly: Monitor for bleeding, adjust anticoagulation. Cancer: Thromboprophylaxis, consider DOACs. Immunosuppressed: Monitor for infections, bleeding.

9.1 Pregnancy

Low-dose aspirin, LMWH (avoid heparin in late pregnancy). Monitor for placental abruption. Adjust anticoagulation doses, monitor renal function, avoid NSAIDs for bleeding risk.

10. KEY POINTS & CLINICAL PEARLS

  1. Thrombosis is a leading cause of mortality in cardiovascular disease. 2. Arterial thrombosis is platelet-driven; venous is fibrin-driven. 3. Genetic variants (Factor V Leiden, MTHFR) increase VTE risk. 4. Anticoagulation is first-line for DVT/PE. 5. Monitor for bleeding in anticoagulant therapy.