Thrombophilia history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Asiri Ediriwickrema, M.D., M.H.S. [2]
Overview
A positive family history of thrombosis and individual recurrent thrombosis history is suggestive of inherited thrombophilias. Thrombophilia screening may be beneficial in these scenarios.[1][2][3]
History and Symptoms
- Clinical history: A detailed history is critical to differentiate between provoked and unprovoked thromboembolism and should include demographics, family history, assessment of risk factors, description of symptoms and followed by a standard physical examination. In up to 70% of patients suffering from VTE, a provoking factor is present. One in three patients reports a positive family history. Early age thrombosis is defined as thrombotic events occurring in people younger than 40 or 50 years old. Unusual site thrombosis includes cerebral, jugular (i.e., Lemierre syndrome), splanchnic and portal (i.e., Budd-Chiari) and upper extremity veins. Based on history and physical exam, the Wells score guides diagnostic workup in first time venous thromboembolism (VTE).
- Physical signs and symptoms: The signs and symptoms of thrombosis vary depending on the presumed location and acuity. Patients with deep vein thrombosis (DVT) often present with isolated extremity swelling, pain, warmth, and erythema at the site of the blockage. The patient typically describes the pain associated with a DVT as “crampy” located in the calf or thigh of the affected lower extremity (though can occur in any extremity). They may exhibit a decreased range of motion of the extremity, inability to ambulate, or radiation of pain (e.g., into the groin for LE DVT extending to femoral vein). Patients with acute pulmonary embolism (PE) may present with pleuritic chest pain, shortness of breath, fatigue, back pain, syncope, or even death if severe (e.g., PE associated with hemodynamic instability or right heart strain). Signs include tachycardia, tachypnea, fever, and may include oxygen desaturation.
- Most commonly, arterial thrombosis results in cardiac or cerebrovascular compromise. Those with acute thrombosis in the coronary arteries of the heart will often report “crushing” left-sided chest pain or heaviness with radiation to the left arm or jaw (classic presentation; though atypical presentations occur frequently). If thrombosis occurs in one of the cerebral arteries (e.g., ischemic stroke), symptoms may include acute onset of unilateral or bilateral weakness, headache, confusion, vision changes, dysarthria, dysphagia, paresthesias, difficulty ambulating, or frank paralysis of one or more extremities.
- The clinical features of patients with thrombophilia include the following:
- Early-age onset of thrombotic events before the age of 40–45 years
- Recurrent episodes of thrombosis or thrombophlebitis
- Strong family history of thrombotic events
- Unusual sites, migratory episodes, or diffuse form of thrombotic events
- Severity out of proportion to any recognized known stimulus for thrombosis
- Unexplained neonatal thrombosis
- Skin necrosis particularly if on coumarins
- Unexplained, prolonged, activated partial thromboplastin time
- Patients with recurrent fetal loss, idiopathic thrombocytopenia, or SLE
- A positive history of the following is suggestive of inherited thrombophilias:
- Family history of thrombosis, especially at an early age (< 45 years)
- Unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis)
- Recurrent thrombosis including deep venous thrombosis, pulmonary embolus, or superficial venous thrombosis
- Thrombosis at multiple sites, or unusual locations including in cerebral, hepatic, portal, mesenteric, and renal veins
- Thrombosis in arteries with the absence of arterial disease
- History of fetal loss
- History of warfarin skin necrosis
References
- ↑ DeLoughery TG. Hemostasis and Thrombosis: Springer International Publishing; 2014.
- ↑ Cohoon KP, Heit JA (2014). "Inherited and secondary thrombophilia". Circulation. 129 (2): 254–7. doi:10.1161/CIRCULATIONAHA.113.001943. PMC 3979345. PMID 24421360.
- ↑ Seligsohn U, Lubetsky A (2001). "Genetic susceptibility to venous thrombosis". N Engl J Med. 344 (16): 1222–31. doi:10.1056/NEJM200104193441607. PMID 11309638.