Thrombophilia resident survival guide

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anahita Deylamsalehi, M.D.[2]

Synonyms and keywords:Approach to thrombophilia, Thrombophilia workup, Thrombophilia diagnostic approach

Overview

Thrombophilia is defined as a predilection for clot formation (thrombosis). It could be inherited/genetical or acquired, nevertheless most of the time thrombophilia is due to an interplay between both inherited and acquired factors. Protein C deficiency is the most common cause of inherited thrombophilia. This clot formation tendency can lead to venous or arterial thrombus formation and subsequent conditions such as pulmonary embolism, deep venous thrombosis, pregnancy loss, severe pre-eclampsia, myocardial infarction and stroke. Most of patients with thrombophilia may remain asymptomatic until another thrombophilic condition has been added and patients with more than one inherited/genetical defects carry higher chance of thrombus formation. symptoms are generally depended on organ that is involved.

Causes

Known causes of thrombophilia include:[1][2][3][4][5][6]

Diagnosis

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Treatment

Shown below is an algorithm summarizing the treatment of [[disease name]] according the the [...] guidelines.

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Do's

Don'ts

References

  1. Khan S, Dickerman JD (2006). "Hereditary thrombophilia". Thromb J. 4: 15. doi:10.1186/1477-9560-4-15. PMC 1592479. PMID 16968541.
  2. Femi-Akinlosotu OM, Shokunbi MT (2020). "Changes in Neuronal Density of the Sensorimotor Cortex and Neurodevelopmental Behaviour in Neonatal Mice with Kaolin-Induced Hydrocephalus". Pediatr Neurosurg: 1–10. doi:10.1159/000510603. PMID 33108787 Check |pmid= value (help).
  3. Rey E, Kahn SR, David M, Shrier I (2003). "Thrombophilic disorders and fetal loss: a meta-analysis". Lancet. 361 (9361): 901–8. doi:10.1016/S0140-6736(03)12771-7. PMID 12648968.
  4. Wun T, Brunson A (2016). "Sickle cell disease: an inherited thrombophilia". Hematology Am Soc Hematol Educ Program. 2016 (1): 640–647. doi:10.1182/asheducation-2016.1.640. PMC 6142455. PMID 27913540.
  5. Parker C, Omine M, Richards S, Nishimura J, Bessler M, Ware R; et al. (2005). "Diagnosis and management of paroxysmal nocturnal hemoglobinuria". Blood. 106 (12): 3699–709. doi:10.1182/blood-2005-04-1717. PMC 1895106. PMID 16051736.
  6. McMahon C, Abu-Elmagd K, Bontempo FA, Kant JA, Swerdlow SH (2007). "JAK2 V617F mutation in patients with catastrophic intra-abdominal thromboses". Am J Clin Pathol. 127 (5): 736–43. doi:10.1309/JA1WD8JNVLGYNQYE. PMID 17439832.
  7. 7.0 7.1 7.2 Lybeck A, Friberg H, Nielsen N, Rundgren M, Ullén S, Zetterberg H; et al. (2020). "Postanoxic electrographic status epilepticus and serum biomarkers of brain injury". Resuscitation. doi:10.1016/j.resuscitation.2020.10.027. PMID 33127439 Check |pmid= value (help).
  8. 8.0 8.1 Ballard RB, Marques MB, Education Committee of the Academy of Clinical Laboratory Physicians and Scientists (2012). "Pathology consultation on the laboratory evaluation of thrombophilia: when, how, and why". Am J Clin Pathol. 137 (4): 553–60. doi:10.1309/AJCP5SQT3ZKYQFBM. PMID 22431530.


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