Rare Prekallikrein Deficiency Identified During Workup of Isolated Prolonged Activated Partial Thromboplastin Time

REFERENCES

1. 1.↵
   1. Rasmussen KL,
   2. Philips M,
   3. Tripodi A,
   4. Goetze JP

   . Unexpected, isolated activated partial thromboplastin time prolongation: a practical mini-review. Eur J Haematol. 2020;104(6):519-525. doi: 10.1111/ejh.13394

   OpenUrlCrossRef
2. 2.↵
   1. Sallah S

   . Inhibitors to clotting factors. Ann Hematol. 1997;75(1-2):1-7. doi: 10.1007/s002770050305

   OpenUrlCrossRefPubMedWeb of Science
3. 3.↵
   1. Barbosa ACN,
   2. Montalvão SAL,
   3. Barbosa KGN,
   4. et al.

   Prolonged APTT of unknown etiology: a systematic evaluation of causes and laboratory resource use in an outpatient hemostasis academic unit. Res Pract Thromb Haemost. 2019;3(4):749-757. doi: 10.1002/rth2.12252

   OpenUrlCrossRef
4. 4.↵
   1. Di Nisio M,
   2. Middeldorp S,
   3. Büller HR

   . Direct thrombin inhibitors [published correction appears in N Engl J Med. 2005 Dec 29;353(26):2827]. N Engl J Med. 2005;353(10):1028-1040. doi: 10.1056/NEJMra044440

   OpenUrlCrossRefPubMedWeb of Science
5. 5.↵
   1. Kottke-Marchant K

   . An Algorithmic Approach to Hemostasis Testing. 2nd ed. College of American Pathologists; 2016.
6. 6.↵
   1. Menegatti M,
   2. Peyvandi F

   . Treatment of rare factor deficiencies other than hemophilia. Blood. 2019;133(5):415-424. doi: 10.1182/blood-2018-06-820738

   OpenUrlAbstract/FREE Full Text
7. 7.↵
   1. Meijers JC

   . No contact, no thrombosis? Blood. 2014;123(11):1629. doi: 10.1182/blood-2014-01-549691

   OpenUrlFREE Full Text
8. 8.↵
   1. Chee YL,
   2. Crawford JC,
   3. Watson HG,
   4. Greaves M

   . Guidelines on the assessment of bleeding risk prior to surgery or invasive procedures. British Committee for Standards in Haematology. Br J Haematol. 2008;140(5):496-504. doi: 10.1111/j.1365-2141.2007.06968.x

   OpenUrlCrossRefPubMedWeb of Science
9. 9.↵
   1. Rahhal H,
   2. Tse BC,
   3. Tang G,
   4. Fralick M,
   5. Hicks L,
   6. Sholzberg M

   . Assessing pre-operative bleeding risk using INR/aPTT: a systematic review. Blood. 2023;142(Supplement 1):2318. doi: 10.1182/blood-2023-185358

   OpenUrlCrossRef
10. 10.↵
    1. Tang G,
    2. Nisenbaum R,
    3. Martin R,
    4. et al.

    Pre-operative coagulation test results do not correlate with self-bleeding assessment tool (Self-BAT) scores. Blood. 2023;142(Supplement 1):2610. doi: 10.1182/blood-2023-177658

    OpenUrlCrossRef
11. 11.↵
    1. Devreese KMJ,
    2. de Groot PG,
    3. de Laat B,
    4. et al.

    Guidance from the Scientific and Standardization Committee for lupus anticoagulant/antiphospholipid antibodies of the International Society on Thrombosis and Haemostasis: update of the guidelines for lupus anticoagulant detection and interpretation. J Thromb Haemost. 2020;18(11):2828-2839. doi: 10.1111/jth.15047

    OpenUrlCrossRefPubMed
12. 12.↵
    1. Devreese KMJ,
    2. Ortel TL,
    3. Pengo V,
    4. de Laat B,
    5. Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibodies

    . Laboratory criteria for antiphospholipid syndrome: communication from the SSC of the ISTH. J Thromb Haemost. 2018;16(4):809-813. doi: 10.1111/jth.13976

    OpenUrlCrossRefPubMed
13. 13.↵
    1. Yates SG,
    2. Fitts E,
    3. De Simone N,
    4. Sarode R

    . Prolonged partial thromboplastin time: to mix or not to mix – is that the question? Transfus Apher Sci. 2019;58(1):39-42. doi: 10.1016/j.transci.2018.11.004

    OpenUrlCrossRef
14. 14.↵
    1. Castaman G,
    2. Goodeve A,
    3. Eikenboom J,
    4. European Group on von Willebrand Disease

    . Principles of care for the diagnosis and treatment of von Willebrand disease. Haematologica. 2013;98(5):667-674. doi: 10.3324/haematol.2012.077263

    OpenUrlAbstract/FREE Full Text
15. 15.↵
    1. Chauhan AK,
    2. Kisucka J,
    3. Lamb CB,
    4. Bergmeier W,
    5. Wagner DD

    . von Willebrand factor and factor VIII are independently required to form stable occlusive thrombi in injured veins. Blood. 2007;109(6):2424-2429. doi: 10.1182/blood-2006-06-028241

    OpenUrlAbstract/FREE Full Text
16. 16.↵
    1. Ng C,
    2. Motto DG,
    3. Di Paola J

    . Diagnostic approach to von Willebrand disease. Blood. 2015;125(13):2029-2037. doi: 10.1182/blood-2014-08-528398

    OpenUrlFREE Full Text
17. 17.↵
    1. Benzon HT,
    2. Park M,
    3. McCarthy RJ,
    4. Kendall MC,
    5. Lindholm PF

    . Mixing studies in patients with prolonged activated partial thromboplastin time or prothrombin time. Anesth Analg. 2019;128(6):1089-1096. doi: 10.1213/ANE.0000000000003457

    OpenUrlCrossRef
18. 18.↵
    1. Erdem-Eraslan L,
    2. Hens JJH,
    3. van Rossum AP,
    4. Frasa MAM,
    5. Keuren JFW

    . Inter-individual variability in phospholipid-dependent interference of C-reactive protein on activated partial thromboplastin time. Br J Haematol. 2018;183(4):681-683. doi: 10.1111/bjh.15013

    OpenUrlCrossRef
19. 19.↵
    1. Ten Boekel E,
    2. Böck M,
    3. Vrielink GJ,
    4. Liem R,
    5. Hendriks H,
    6. de Kieviet W

    . Detection of shortened activated partial thromboplastin times: an evaluation of different commercial reagents. Thromb Res. 2007;121(3):361-367. doi: 10.1016/j.thromres.2007.05.006

    OpenUrlCrossRefPubMed
20. 20.↵
    1. Girolami A,
    2. Scarparo P,
    3. Candeo N,
    4. Lombardi AM

    . Congenital prekallikrein deficiency. Expert Rev Hematol. 2010;3(6):685-695. doi: 10.1586/ehm.10.69

    OpenUrlCrossRefPubMed
21. 21.↵
    MedlinePlus. Prekallikrein deficiency. National Institutes of Health National Library of Medicine. Updated July 1, 2014. Accessed June 25, 2024. medlineplus.gov/genetics/condition/prekallikrein-deficiency/
22. 22.↵
    1. Kearney KJ,
    2. Butler J,
    3. Posada OM,
    4. et al.

    Kallikrein directly interacts with and activates Factor IX, resulting in thrombin generation and fibrin formation independent of Factor XI. Proc Natl Acad Sci U S A. 2021;118(3):e2014810118. doi: 10.1073/pnas.2014810118

    OpenUrlAbstract/FREE Full Text
23. 23.↵
    1. Barco S,
    2. Sollfrank S,
    3. Trinchero A,
    4. et al.

    Severe plasma prekallikrein deficiency: clinical characteristics, novel KLKB1 mutations, and estimated prevalence. J Thromb Haemost. 2020;18(7):1598-1617. doi: 10.1111/jth.14805

    OpenUrlCrossRef