Thrombophilia history and symptoms: Difference between revisions
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==History and Symptoms== | ==History and Symptoms== | ||
*'''Clinical history:''' A detailed history | *'''Clinical history:''' | ||
**A detailed history to differentiate between provoked and unprovoked thromboembolism includes demographics, family history, assessment of risk factors and physical symptoms followed by a standard physical examination. | |||
**A provoking factor is present in up to 70% of patients suffering from VTE. | |||
**One in three patients reports a positive family history. 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. | *'''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. | ||
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**Recurrent episodes of thrombosis or thrombophlebitis | **Recurrent episodes of thrombosis or thrombophlebitis | ||
**Strong family history of [[thrombosis]] or thrombotic events especially at an early age (< 45 years) | **Strong family history of [[thrombosis]] or thrombotic events especially at an early age (< 45 years) | ||
**Thrombosis at multiple or unusual locations including in [[internal cerebral veins|cerebral]], [[hepatic vein|hepatic]], [[portal vein|portal]], [[Mesenteric vein thrombosis|mesenteric]], | **Thrombosis at multiple or unusual locations including in [[internal cerebral veins|cerebral]], jugular (i.e., Lemierre syndrome), [[hepatic vein|hepatic]], [[portal vein|portal]] (i.e., Budd-Chiari), [[Mesenteric vein thrombosis|mesenteric]], [[renal vein]]s and upper extremity veins. | ||
**Migratory episodes or diffuse form of thrombotic events | **Migratory episodes or diffuse form of thrombotic events | ||
**Severity out of proportion to any recognized known stimulus for thrombosis | **Severity out of proportion to any recognized known stimulus for thrombosis | ||
Revision as of 03:25, 4 March 2021
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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] Jaspinder Kaur, MBBS[3]
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 to differentiate between provoked and unprovoked thromboembolism includes demographics, family history, assessment of risk factors and physical symptoms followed by a standard physical examination.
- A provoking factor is present in up to 70% of patients suffering from VTE.
- One in three patients reports a positive family history. 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:
- Unprovoked thrombosis at an early age (<40-55 for venous thrombosis and <50-55 for arterial thrombosis)
- Recurrent episodes of thrombosis or thrombophlebitis
- Strong family history of thrombosis or thrombotic events especially at an early age (< 45 years)
- Thrombosis at multiple or unusual locations including in cerebral, jugular (i.e., Lemierre syndrome), hepatic, portal (i.e., Budd-Chiari), mesenteric, renal veins and upper extremity veins.
- Migratory episodes or diffuse form of thrombotic events
- Severity out of proportion to any recognized known stimulus for thrombosis
- Unexplained neonatal thrombosis or fetal loss
- Skin necrosis particularly if on coumarins or warfarin skin necrosis
- Unexplained, prolonged, activated partial thromboplastin time
- Patients with idiopathic thrombocytopenia, SLE or recurrent thrombosis including deep venous thrombosis, pulmonary embolus, or superficial venous thrombosis
- Thrombosis in arteries with the absence of arterial disease
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.