Hemophilia A laboratory findings: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemophilia A}} | {{Hemophilia A}} | ||
{{CMG}} {{FNY}} | {{CMG}}{{AE}}{{FNY}} {{VE}} | ||
==Overview== | ==Overview== | ||
The diagnosis of [[Hemophilia A]] may be suspected as [[coagulation]] testing reveals an increased [[partial thromboplastin time|PTT]] in the context of a normal [[prothrombin time|PT]] and [[bleeding time]]. <ref name="pmid25356200">{{cite journal| author=Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM et al.| title=A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report. | journal=Clin Case Rep | year= 2013 | volume= 1 | issue= 1 | pages= 3-6 | pmid=25356200 | doi=10.1002/ccr3.2 | pmc=4184532 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25356200 }} </ref> The diagnosis is made in the presence of very low (<10 IU) levels of [[factor VIII]]. | The diagnosis of [[Hemophilia A]] and B may be suspected as [[coagulation]] testing reveals an increased [[partial thromboplastin time|PTT]] in the context of a normal [[prothrombin time|PT]] and [[bleeding time]].<ref name="pmid25356200">{{cite journal| author=Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM et al.| title=A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report. | journal=Clin Case Rep | year= 2013 | volume= 1 | issue= 1 | pages= 3-6 | pmid=25356200 | doi=10.1002/ccr3.2 | pmc=4184532 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25356200 }} </ref> The diagnosis is made in the presence of very low (<10 IU) levels of [[factor VIII]]/ IX. | ||
A very small minority of patients has [[antibodies]] against factor VIII that impair its functioning. Management of these patients is more complicated. <ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref> | A very small minority of patients has [[antibodies]] against factor VIII that impair its functioning. Management of these patients is more complicated.<ref>Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016 </ref> Development of these inhibitor antibodies in Hemophilia B patients is even much less common; but when present, they make the treatment process of the disease very difficult<ref name="pmid29925096">{{cite journal| author=Santoro C, Quintavalle G, Castaman G, Baldacci E, Ferretti A, Riccardi F et al.| title=Inhibitors in Hemophilia B. | journal=Semin Thromb Hemost | year= 2018 | volume= | issue= | pages= | pmid=29925096 | doi=10.1055/s-0038-1660817 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29925096 }}</ref>. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
The typical coagulation profile of a patient with hemophilia A usually presents as the following: <ref> Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016 </ref> | The typical coagulation profile of a patient with hemophilia A usually presents as the following:<ref>Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016 </ref> | ||
:*Prolonged partial thromboplastin time (PTT) | :*Prolonged partial thromboplastin time (PTT) | ||
:*Normal prothrombin time | :*Normal prothrombin time(PT) | ||
:*Normal [[bleeding time]] | :*Normal [[bleeding time]](BT) | ||
:*Normal [[fibrinogen]] level | :*Normal [[fibrinogen]] level | ||
:*Low factor VIII | :*Low factor VIII in Hemophilia A/ Low factor IX in Hemophilia B/ Low factor XI in Hemophilia C | ||
Other laboratory findings consistent with the diagnosis of | Other laboratory findings consistent with the diagnosis of Hemophilia include correction of the PTT with a 1:1 [[mixing study]] (i.e. factor VIII/ IX from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit) | ||
==References== | ==References== | ||
Latest revision as of 09:21, 29 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2] Vahid Eidkhani, M.D.
Overview
The diagnosis of Hemophilia A and B may be suspected as coagulation testing reveals an increased PTT in the context of a normal PT and bleeding time.[1] The diagnosis is made in the presence of very low (<10 IU) levels of factor VIII/ IX. A very small minority of patients has antibodies against factor VIII that impair its functioning. Management of these patients is more complicated.[2] Development of these inhibitor antibodies in Hemophilia B patients is even much less common; but when present, they make the treatment process of the disease very difficult[3].
Laboratory Findings
The typical coagulation profile of a patient with hemophilia A usually presents as the following:[4]
- Prolonged partial thromboplastin time (PTT)
- Normal prothrombin time(PT)
- Normal bleeding time(BT)
- Normal fibrinogen level
- Low factor VIII in Hemophilia A/ Low factor IX in Hemophilia B/ Low factor XI in Hemophilia C
Other laboratory findings consistent with the diagnosis of Hemophilia include correction of the PTT with a 1:1 mixing study (i.e. factor VIII/ IX from the normal blood mixed with the hemophiliac blood is able to correct for the coagulation deficit)
References
- ↑ Cortegiani A, Russotto V, Foresta G, Montalto F, Strano MT, Raineri SM; et al. (2013). "A perioperative uncontrollable bleeding in an elderly patient with acquired hemophilia A: a case report". Clin Case Rep. 1 (1): 3–6. doi:10.1002/ccr3.2. PMC 4184532. PMID 25356200.
- ↑ Handbook of Genetic Counseling/Hemophilia and Von Willebrand Disease – Wikibooks, open books for an open world. Available at https://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling/Hemophilia_and_Von_Willebrand_Disease Accessed on July 30,2016
- ↑ Santoro C, Quintavalle G, Castaman G, Baldacci E, Ferretti A, Riccardi F; et al. (2018). "Inhibitors in Hemophilia B." Semin Thromb Hemost. doi:10.1055/s-0038-1660817. PMID 29925096.
- ↑ Diagnosis | Hemophilia | NCBDDD | CDC. Available at http://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Accessed on Sept 20, 2016