HYPERCOAGULABLE STATES   23A

A 23-year-old woman presents to the emergency department with acute shortness of breath associated with right-sided pleuritic chest pain. She denies fever, chills, cough, and other respiratory symptoms. She has no lower extremity swelling. She has not been ill, bedridden, or immobile for a prolonged period. About 2 years ago, she had a deep venous thrombosis (DVT) in the right lower extremity while taking oral contraceptives. She has been otherwise healthy and is currently taking no medications. On family history, her father died of a pulmonary embolus (PE). On physical examination, she appears anxious and in mild respiratory distress. Her heart rate was 110 beats/min and respiratory rate 20 breaths/min. She has no fever, and her blood pressure is normal. Physical examination findings are normal. Chest radiography findings are normal. Ventilation/perfusion (V/Q) scan reveals a high probability of PE. A hypercoagulable state is suspected.

What are the salient features of this patient’s problem? How do you think through her problem?

Salient features: Young woman; acute onset of dyspnea; pleuritic chest pain; personal and family history of DVT; tachycardia; respiratory distress; normal chest radiography; PE on V/Q scan

How to think through: This patient’s pleuritic chest pain, tachycardia, history of DVT, and absence of another likely cause of her symptoms confer a high pretest probability of PE. She should be treated with heparin immediately even before confirmation of PE by computed tomography (CT) angiography or V/Q scan. When a removable risk factor for DVT or PE is identified, evaluation for an inherited cause of thrombophilia is not usually performed, and anticoagulation is short term. What are removable risk factors? (Immobility, cancer, recent surgery, or blood vessel wall injury.) This patient’s prior DVT was at first considered to be provoked, given her use of an oral contraceptive. However, the family history of PE suggests a possible inherited cause; evaluation for thrombophilia is appropriate. What tests should be done? (Prothrombin time [PT]; activated partial thromboplastin time [aPTT]; activated protein C resistance; antithrombin [AT], protein C, and protein S levels; lupus anticoagulant test.) Lifelong anticoagulation is indicated, regardless of the evaluation. But evaluation is important for other reasons (e.g., fertility implications, family member guidance).

HYPERCOAGULABLE STATES   23B

What are the essentials of diagnosis and general considerations regarding hypercoagulable states?

Essentials of Diagnosis

Thrombosis, often in the deep veins of the legs

Personal or family history of clotting, presence of systemic disease, or no provoking factor associated with thrombosis are clues to a hypercoagulable state

Prolonged clotting times in some diseases

General Considerations

Hypercoagulable states may be inherited or acquired.

Activated protein C resistance (factor V Leiden) is the most common inherited problem; protein C and protein S deficiencies, AT deficiency, and prothrombin G20212A mutation are also inherited.

Lupus anticoagulants may occur in patients with or without systemic lupus erythematosus or other underlying diseases.

Patients with recurrent or serious thrombosis, a family history of thrombosis, spontaneous abortions, and systemic lupus erythematosus as well as patients without DVT or PE risk factors should be evaluated for hypercoagulable states.

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