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]
To read the thrombophilia microchapter click here.
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

Shown below is an algorithm summarizing the diagnosis of thrombophilia.[7][8][9][10][11]

Abbreviations: CBC: complete blood count; VTE: Venous thromboembolism; R/O: Rule out; PT: Prothrombin time; PTT: Partial thromboplastin time; INR: international normalized ratio; ELISA: Enzyme linked immunosorbent assay, AT: Antithrombin

 
 
 
Suspected Thrombophilia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Determine the necessity for thrombophilia evaluation:

Factors that favor a throughout evaluation:

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Further evaluation for Antiphospholipid syndrome, in the presence of features such as:

AND

 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Investigate other common etiologies:
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Investigate less common etiologies:
 
 
 
Prolongation of at least one Phospholipid dependent test
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Does addition of a healthy plasma correct the prolonged phospholipid dependent test?
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Yes.

No LA is present.

Investigate possible factor deficiency
 
 
 
 
 
 
No.
Does escalation of phospholipid concentration correct the prolonged phospholipid dependent test?
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Yes, LA is present
  • Confirm positive results to R/O transient conditions.
 


The following is two algorithms summarizing the diagnosis of protein C and protein S deficiency.[7]
Abbreviations: R/O: rule out; DIC: Disseminated intravascular coagulation;


 
 
 
Suspicious of protein S deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Free protein S assay
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Abnormal
 
 
 
Normal: No further testing
 
 
 
 
 
 
 
 
 
 
 
Check protein S activity
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Abnormal protein S activity

R/O acquired causes, such as:

Repeat free protein S and protein S activity after 4-6 weeks.
 
 
 
 
 



 
 
 
Suspicious of protein C deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Functional assay of protein C
 
 
 
Protein C antigen assay
  • Not able to distinguish two types of AT deficiency.
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
R/O acquired causes of low protein C activity, such as:
 
 
 

Treatment

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

 
 
 
 
 
 
 
B
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

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 Marlar RA, Gausman JN (2011). "Protein S abnormalities: a diagnostic nightmare". Am J Hematol. 86 (5): 418–21. doi:10.1002/ajh.21992. PMID 21523802.
  8. 8.0 8.1 8.2 8.3 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).
  9. 9.0 9.1 9.2 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.
  10. Cattaneo M, Chantarangkul V, Taioli E, Santos JH, Tagliabue L (1999). "The G20210A mutation of the prothrombin gene in patients with previous first episodes of deep-vein thrombosis: prevalence and association with factor V G1691A, methylenetetrahydrofolate reductase C677T and plasma prothrombin levels". Thromb Res. 93 (1): 1–8. doi:10.1016/s0049-3848(98)00136-4. PMID 10065893.
  11. Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S; et al. (2010). "Clinical guidelines for testing for heritable thrombophilia". Br J Haematol. 149 (2): 209–20. doi:10.1111/j.1365-2141.2009.08022.x. PMID 20128794.
  12. 12.0 12.1 Bauer KA (2003). "Management of thrombophilia". J Thromb Haemost. 1 (7): 1429–34. doi:10.1046/j.1538-7836.2003.00274.x. PMID 12871277.
  13. Ginsberg JS, Hirsh J (1989). "Anticoagulants during pregnancy". Annu Rev Med. 40: 79–86. doi:10.1146/annurev.me.40.020189.000455. PMID 2658763.


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