Thrombophilia history and symptoms: Difference between revisions
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***Patients may present with pleuritic chest pain, shortness of breath, fatigue, back pain, syncope, or even death if severe cases associated with hemodynamic instability or right heart strain. | ***Patients may present with pleuritic chest pain, shortness of breath, fatigue, back pain, syncope, or even death if severe cases associated with hemodynamic instability or right heart strain. | ||
***Signs include tachycardia, tachypnea, fever, and may include oxygen desaturation. | ***Signs include tachycardia, tachypnea, fever, and may include oxygen desaturation. | ||
**'''Arterial thrombosis:''' | **'''Arterial thrombosis:''' They are most commonly found in cardiac or cerebrovascular vasculature. | ||
***'''Coronary arteries:''' They often report with the classic presentation of “crushing” left-sided chest pain or heaviness with radiation to the left arm or jaw; though atypical presentations can occur frequently. | |||
***'''Cerebral arteries:''' It may present with ischemic stroke symptoms which 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. | |||
'''Table 1: Clinical characteristics of patients with thrombophilia''' | |||
{| class="wikitable" | |||
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! '''Clinical features''' | |||
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*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 [[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 | |||
*Severity out of proportion to any recognized known stimulus for thrombosis | |||
*Unexplained neonatal thrombosis or [[miscarriage|fetal loss]] | |||
*Skin necrosis particularly if on coumarins or [[Warfarin_necrosis|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 [[Peripheral_arterial_disease|arterial disease]] | |||
|} | |||
==References== | ==References== | ||
Revision as of 17:30, 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 consisting of demographics, family history, assessment of risk factors and physical symptoms followed by a standard physical examination is required to differentiate between provoked and unprovoked thromboembolism. A provoking factor is present in up to 70% of patients suffering from venous thromboembolism (VTE).
- One in three patients reports a positive family history predicting the underlying inherited thrombophilia.
- Based on history and physical exam, the Wells score guides diagnostic workup in first time (VTE) is preferred.
- Physical signs and symptoms:
- The signs and symptoms of thrombosis vary depending on the presumed location and acuity.
- Deep Vein Thrombosis (DVT):
- Patients often present with isolated extremity swelling, pain, warmth, and erythema at the site of the blockage and describes the pain as “crampy” located in the calf or thigh of the affected lower extremity or 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). acute
- Acute Pulmonary Embolism (PE):
- Patients may present with pleuritic chest pain, shortness of breath, fatigue, back pain, syncope, or even death if severe cases associated with hemodynamic instability or right heart strain.
- Signs include tachycardia, tachypnea, fever, and may include oxygen desaturation.
- Arterial thrombosis: They are most commonly found in cardiac or cerebrovascular vasculature.
- Coronary arteries: They often report with the classic presentation of “crushing” left-sided chest pain or heaviness with radiation to the left arm or jaw; though atypical presentations can occur frequently.
- Cerebral arteries: It may present with ischemic stroke symptoms which 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.
Table 1: Clinical characteristics of patients with thrombophilia
| Clinical features |
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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.