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== Overview ==
== Overview ==
[[Coagulation]] tests and [[coagulation]] [[Assay|assays]] are the [[Gold standard (test)|gold standard]] for the [[diagnosis]] of hemophilia. Prolonged [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]], normal [[Prothrombin time|prothrombin time (PT)]], prolonged [[Bleeding time|bleeding time (BT)]], and normal [[fibrinogen]] concentration are [[Diagnosis|diagnostic]] of hemophilia. [[Coagulation]] tests should be followed by measuring the clotting factors level by [[coagulation]] assays. Once the [[coagulation]] discrepancy has been established, individual clotting factor [[assay]] can be performed to determine the [[Deficiency|deficient]]/absent clotting factor. Bethesda assay can be performed in the case of acquired hemophilia to detect and quantify [[antibodies]] directed against [[factor VIII]].


== Diagnostic Study of Choice ==
==Diagnostic Study of Choice==
 
The following result of the [[coagulation]] tests and [[coagulation]] [[Assay|assays]] is confirmatory of hemophilia:
=== Study of choice ===
*Prolonged [[Activated partial thromboplastin time|activated partial thromboplastin time (aPTT)]]<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref><ref name="pmid17605969">{{cite journal |vauthors=Kamal AH, Tefferi A, Pruthi RK |title=How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults |journal=Mayo Clin. Proc. |volume=82 |issue=7 |pages=864–73 |date=July 2007 |pmid=17605969 |doi=10.4065/82.7.864 |url=}}</ref><ref name="pmid30568085">{{cite journal |vauthors=Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K |title=[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis] |language=Japanese |journal=J. UOEH |volume=40 |issue=4 |pages=331–337 |date=2018 |pmid=30568085 |doi=10.7888/juoeh.40.331 |url=}}</ref><ref>https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref><ref name="pmid30473893">{{cite journal |vauthors=Gamage M, Weerasinghe S, Nasoor M, Karunarathne AMPW, Abeyrathne SP |title=Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A |journal=Case Rep Hematol |volume=2018 |issue= |pages=6208597 |date=2018 |pmid=30473893 |pmc=6220402 |doi=10.1155/2018/6208597 |url=}}</ref><ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 |doi=10.12659/AJCR.908854 |url=}}</ref>
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
*Normal [[Prothrombin time|prothrombin time (PT)]]<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref><ref name="pmid17605969">{{cite journal |vauthors=Kamal AH, Tefferi A, Pruthi RK |title=How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults |journal=Mayo Clin. Proc. |volume=82 |issue=7 |pages=864–73 |date=July 2007 |pmid=17605969 |doi=10.4065/82.7.864 |url=}}</ref><ref>https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html</ref><ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 *Prolonged bleeding time (BT)<nowiki><ref name="pmid3753724"></nowiki>{{cite journal |vauthors=Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J |title=Bleeding time in hemophilia A: potential mechanisms for prolongation |journal=J. Pediatr. |volume=108 |issue=2 |pages=215–8 |date=February 1986 |pmid=3753724 |doi= |url=}}</ref><ref name="pmid6791725">{{cite journal |vauthors=Eyster ME, Gordon RA, Ballard JO |title=The bleeding time is longer than normal in hemophilia |journal=Blood |volume=58 |issue=4 |pages=719–23 |date=October 1981 |pmid=6791725 |doi= |url=}}</ref>
 
*Normal [[fibrinogen]] concentration<ref name="pmid29780157">{{cite journal |vauthors=Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R |title=Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature |journal=Am J Case Rep |volume=19 |issue= |pages=582–588 |date=May 2018 |pmid=29780157 |pmc=5993004 |doi=10.12659/AJCR.908854 |url=}}</ref><ref name="pmid30568085">{{cite journal |vauthors=Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K |title=[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis] |language=Japanese |journal=J. UOEH |volume=40 |issue=4 |pages=331–337 |date=2018 |pmid=30568085 |doi=10.7888/juoeh.40.331 |url=}}</ref>
OR
*Prolonged [[Bleeding time|bleeding time (BT)]]<ref name="pmid3753724">{{cite journal |vauthors=Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J |title=Bleeding time in hemophilia A: potential mechanisms for prolongation |journal=J. Pediatr. |volume=108 |issue=2 |pages=215–8 |date=February 1986 |pmid=3753724 |doi= |url=}}</ref><ref name="pmid6791725">{{cite journal |vauthors=Eyster ME, Gordon RA, Ballard JO |title=The bleeding time is longer than normal in hemophilia |journal=Blood |volume=58 |issue=4 |pages=719–23 |date=October 1981 |pmid=6791725 |doi= |url=}}</ref>
 
*[[Deficiency]] or complete absence of clotting [[factor VIII]] or [[Factor IX|IX]]<ref name="pmid11396445">{{cite journal |vauthors=Mannucci PM, Tuddenham EG |title=The hemophilias--from royal genes to gene therapy |journal=N. Engl. J. Med. |volume=344 |issue=23 |pages=1773–9 |date=June 2001 |pmid=11396445 |doi=10.1056/NEJM200106073442307 |url=}}</ref>
The following result of [gold standard test] is confirmatory of [disease name]:
* [Result 1]
* [Result 2]
 
OR
 
[Name of the investigation] must be performed when:
* The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
* A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.
 
OR
 
[Name of the investigation] is the gold standard test for the diagnosis of [disease name].
 
OR
 
The diagnostic study of choice for [disease name] is [name of the investigation].
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name].  
 
OR
 
There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].
 
OR
 
[Disease name] is primarily diagnosed based on the clinical presentation.
 
OR
 
Investigations:
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
* Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.
 
==== The comparison of various diagnostic studies for [disease name] ====
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|-
! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
|}
<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 
===== Diagnostic results =====
The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
* [Finding 1]
* [Finding 2]
 
===== Sequence of Diagnostic Studies =====
The [name of investigation] must be performed when:
* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
* A positive [test] is detected in the patient, to confirm the diagnosis.
 
OR
 
The various investigations must be performed in the following order:
* [Initial investigation]
* [2nd investigation]
 
=== Name of Diagnostic Criteria ===
 
'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
 
[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
 
OR
 
There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
 
OR
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
[Disease name] may be diagnosed at any time if one or more of the following criteria are met:  
* Criteria 1
* Criteria 2
* Criteria 3
 
OR
 
'''IF there are clear, established diagnostic criteria'''
 
The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
 
OR
 
The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
 
OR
 
'''IF there are no established diagnostic criteria'''
 
There are no established criteria for the diagnosis of [disease name].


==References==
==References==

Latest revision as of 15:53, 22 January 2019

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

Overview

Coagulation tests and coagulation assays are the gold standard for the diagnosis of hemophilia. Prolonged activated partial thromboplastin time (aPTT), normal prothrombin time (PT), prolonged bleeding time (BT), and normal fibrinogen concentration are diagnostic of hemophilia. Coagulation tests should be followed by measuring the clotting factors level by coagulation assays. Once the coagulation discrepancy has been established, individual clotting factor assay can be performed to determine the deficient/absent clotting factor. Bethesda assay can be performed in the case of acquired hemophilia to detect and quantify antibodies directed against factor VIII.

Diagnostic Study of Choice

The following result of the coagulation tests and coagulation assays is confirmatory of hemophilia:

References

  1. ↑ 1.0 1.1 Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A (July 2018). "Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia". Indian Pediatr. 55 (7): 582–590. PMID 30129541.
  2. ↑ 2.0 2.1 Kamal AH, Tefferi A, Pruthi RK (July 2007). "How to interpret and pursue an abnormal prothrombin time, activated partial thromboplastin time, and bleeding time in adults". Mayo Clin. Proc. 82 (7): 864–73. doi:10.4065/82.7.864. PMID 17605969.
  3. ↑ 3.0 3.1 Asai H, Shirayama R, Oshida K, Honda Y, Sato T, Sakai M, Kusuhara K (2018). "[A Pediatric Case of Acquired Hemophilia A: The Usefulness of the Activated Partial Thromboplastin Time (APTT) Cross-Mixing Test for Early Diagnosis]". J. UOEH (in Japanese). 40 (4): 331–337. doi:10.7888/juoeh.40.331. PMID 30568085.
  4. ↑ https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  5. ↑ Gamage M, Weerasinghe S, Nasoor M, Karunarathne A, Abeyrathne SP (2018). "Progressive Intramuscular Haematoma in a 12-Year-Old Boy: A Case of Acquired Haemophilia A". Case Rep Hematol. 2018: 6208597. doi:10.1155/2018/6208597. PMC 6220402. PMID 30473893. Vancouver style error: initials (help)
  6. ↑ 6.0 6.1 6.2 Ghozlani I, Mounach A, Ghazi M, Kherrab A, Niamane R (May 2018). "Targeting Acquired Hemophilia A with Rheumatoid Arthritis by a Rituximab Shot: A Case Report and Review of the Literature". Am J Case Rep. 19: 582–588. doi:10.12659/AJCR.908854. PMC 5993004. PMID 29780157.
  7. ↑ https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html
  8. ↑ 8.0 8.1 Eyster ME, Gordon RA, Ballard JO (October 1981). "The bleeding time is longer than normal in hemophilia". Blood. 58 (4): 719–23. PMID 6791725.
  9. ↑ Stuart MJ, Walenga RW, Sadowitz PD, Maltby A, Kelton JG, Gauldie J (February 1986). "Bleeding time in hemophilia A: potential mechanisms for prolongation". J. Pediatr. 108 (2): 215–8. PMID 3753724.
  10. ↑ Mannucci PM, Tuddenham EG (June 2001). "The hemophilias--from royal genes to gene therapy". N. Engl. J. Med. 344 (23): 1773–9. doi:10.1056/NEJM200106073442307. PMID 11396445.

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