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Prekallikrein deficiency(PKKD)

MedGen UID:
75779
Concept ID:
C0272339
Disease or Syndrome
Synonyms: FLETCHER FACTOR DEFICIENCY; PKK DEFICIENCY
SNOMED CT: Fletcher trait (48976006); Prekallikrein deficiency (48976006); Fletcher factor deficiency (48976006)
 
Related gene: KLKB1
 
Monarch Initiative: MONDO:0044744
OMIM®: 229000; 612423

Definition

Prekallikrein deficiency is a blood condition that usually causes no health problems. In people with this condition, blood tests show a prolonged activated partial thromboplastin time (PTT), a result that is typically associated with bleeding problems; however, bleeding problems generally do not occur in prekallikrein deficiency. The condition is usually discovered when blood tests are done for other reasons.

A few people with prekallikrein deficiency have experienced health problems related to blood clotting such as heart attack, stroke, a clot in the deep veins of the arms or legs (deep vein thrombosis), nosebleeds, or excessive bleeding after surgery. However, these are common problems in the general population, and most affected individuals have other risk factors for developing them, so it is unclear whether their occurrence is related to prekallikrein deficiency. [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Prekallikrein deficiency in Orphanet.

Recent clinical studies

Etiology

Adenaeuer A, Ezigbo ED, Fawzy Nazir H, Barco S, Trinchero A, Laubert-Reh D, Strauch K, Wild PS, Lackner KJ, Lämmle B, Rossmann H
J Thromb Haemost 2021 Jan;19(1):147-152. Epub 2020 Nov 18 doi: 10.1111/jth.15137. PMID: 33073460
Visser M, Heitmeier S, Ten Cate H, Spronk HMH
Thromb Haemost 2020 Jun;120(6):883-993. Epub 2020 May 6 doi: 10.1055/s-0040-1710013. PMID: 32375196
Nakav S, Blickstein D, Raanani P, Rabizadeh E, Spectre G
Blood Coagul Fibrinolysis 2020 Apr;31(3):225-228. doi: 10.1097/MBC.0000000000000894. PMID: 31990752
Schmaier AH
Curr Opin Hematol 2016 Sep;23(5):445-52. doi: 10.1097/MOH.0000000000000271. PMID: 27380557Free PMC Article
Girolami A, Scarparo P, Candeo N, Lombardi AM
Expert Rev Hematol 2010 Dec;3(6):685-95. doi: 10.1586/ehm.10.69. PMID: 21091145

Diagnosis

Adenaeuer A, Ezigbo ED, Fawzy Nazir H, Barco S, Trinchero A, Laubert-Reh D, Strauch K, Wild PS, Lackner KJ, Lämmle B, Rossmann H
J Thromb Haemost 2021 Jan;19(1):147-152. Epub 2020 Nov 18 doi: 10.1111/jth.15137. PMID: 33073460
Barco S, Sollfrank S, Trinchero A, Adenaeuer A, Abolghasemi H, Conti L, Häuser F, Kremer Hovinga JA, Lackner KJ, Loewecke F, Miloni E, Vazifeh Shiran N, Tomao L, Wuillemin WA, Zieger B, Lämmle B, Rossmann H
J Thromb Haemost 2020 Jul;18(7):1598-1617. Epub 2020 May 15 doi: 10.1111/jth.14805. PMID: 32202057
Quail MT
J Pediatr Oncol Nurs 2013 Jul-Aug;30(4):198-204. Epub 2013 Apr 29 doi: 10.1177/1043454213487436. PMID: 23629422
Girolami A, Scarparo P, Candeo N, Lombardi AM
Expert Rev Hematol 2010 Dec;3(6):685-95. doi: 10.1586/ehm.10.69. PMID: 21091145
Kitchens CS
Arch Pathol Lab Med 2002 Nov;126(11):1382-6. doi: 10.5858/2002-126-1382-TCS. PMID: 12421145

Therapy

Henderson MW, Sparkenbaugh EM, Wang S, Ilich A, Noubouossie DF, Mailer R, Renné T, Flick MJ, Luyendyk JP, Chen ZL, Strickland S, Stravitz RT, McCrae KR, Key NS, Pawlinski R
Blood 2021 Jul 22;138(3):259-272. doi: 10.1182/blood.2020006198. PMID: 33827130Free PMC Article
Kaplan AP
Allergy Asthma Proc 2020 Nov 1;41(Suppl 1):S51-S54. doi: 10.2500/aap.2020.41.200056. PMID: 33109328
Visser M, Heitmeier S, Ten Cate H, Spronk HMH
Thromb Haemost 2020 Jun;120(6):883-993. Epub 2020 May 6 doi: 10.1055/s-0040-1710013. PMID: 32375196
Nakav S, Blickstein D, Raanani P, Rabizadeh E, Spectre G
Blood Coagul Fibrinolysis 2020 Apr;31(3):225-228. doi: 10.1097/MBC.0000000000000894. PMID: 31990752
Girolami A, Ferrari S, Cosi E, Girolami B
Blood Coagul Fibrinolysis 2018 Jul;29(5):423-428. doi: 10.1097/MBC.0000000000000735. PMID: 29762144

Prognosis

Riano I, Prasongdee K
J Investig Med High Impact Case Rep 2021 Jan-Dec;9:23247096211012187. doi: 10.1177/23247096211012187. PMID: 33940978Free PMC Article
Barco S, Sollfrank S, Trinchero A, Adenaeuer A, Abolghasemi H, Conti L, Häuser F, Kremer Hovinga JA, Lackner KJ, Loewecke F, Miloni E, Vazifeh Shiran N, Tomao L, Wuillemin WA, Zieger B, Lämmle B, Rossmann H
J Thromb Haemost 2020 Jul;18(7):1598-1617. Epub 2020 May 15 doi: 10.1111/jth.14805. PMID: 32202057
Girolami A, Ferrari S, Cosi E, Girolami B
Blood Coagul Fibrinolysis 2018 Jul;29(5):423-428. doi: 10.1097/MBC.0000000000000735. PMID: 29762144
Girolami A, Candeo N, De Marinis GB, Bonamigo E, Girolami B
J Thromb Thrombolysis 2011 Jan;31(1):57-63. doi: 10.1007/s11239-010-0495-z. PMID: 20577781
Girolami A, Scarparo P, Candeo N, Lombardi AM
Expert Rev Hematol 2010 Dec;3(6):685-95. doi: 10.1586/ehm.10.69. PMID: 21091145

Clinical prediction guides

Henderson MW, Sparkenbaugh EM, Wang S, Ilich A, Noubouossie DF, Mailer R, Renné T, Flick MJ, Luyendyk JP, Chen ZL, Strickland S, Stravitz RT, McCrae KR, Key NS, Pawlinski R
Blood 2021 Jul 22;138(3):259-272. doi: 10.1182/blood.2020006198. PMID: 33827130Free PMC Article
Girolami A, Rolland C, Sexton D, Vardi M, Bernstein JA
Allergy Asthma Proc 2020 Jan 17;41(1):10-18. doi: 10.2500/aap.2020.41.190005. PMID: 31888778
Girolami A, Ferrari S, Cosi E, Sambado L, Girolami B
Blood Coagul Fibrinolysis 2015 Jul;26(5):560-3. doi: 10.1097/MBC.0000000000000294. PMID: 25886833
Slack SM, Bohnert JL, Horbett TA
Ann N Y Acad Sci 1987;516:223-43. doi: 10.1111/j.1749-6632.1987.tb33044.x. PMID: 3439728
Bouma BN, Kerbiriou DM, Baker J, Griffin JH
J Clin Invest 1986 Jul;78(1):170-6. doi: 10.1172/JCI112547. PMID: 3487556Free PMC Article

Recent systematic reviews

Girolami A, Rolland C, Sexton D, Vardi M, Bernstein JA
Allergy Asthma Proc 2020 Jan 17;41(1):10-18. doi: 10.2500/aap.2020.41.190005. PMID: 31888778

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