Hemophilia A differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Hemophilia A}}
{{Hemophilia A}}
{{CMG}}{{AE}}{{FNY}}
{{CMG}}{{AE}} {{VE}} {{FNY}}


==Overview==
==Overview==
[[Hemophilia A]] must be differentiated from other diseases that cause abnormal or excessive bleeding<ref> Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/ </ref>
[[Hemophilia]] must be differentiated from other diseases that cause abnormal or excessive bleeding.<ref>Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/ </ref>


==Differentiating Hemophilia A from other Diseases==
==Differentiating Hemophilia A from other Diseases==
The most important [[differential diagnosis]] is that of [[hemophilia B]] (also known as Christmas disease) or [[von Willebrand disease]]. The former is usually considered if [[factor VIII]] levels are normal in a person with a hemophilia phenotype. The latter is excluded on routine testing for that condition.
The most important [[differential diagnosis]] of Hemophilia A is that of [[hemophilia B]] (also known as Christmas disease) or [[von Willebrand disease]] (the most common hereditary clotting disorder). The former is usually considered if [[factor VIII]] levels are normal in a person with a hemophilia phenotype. The latter is excluded on routine testing for that condition.


==Differential Diagnosis==
==Differential Diagnosis==
Other diseases which should be considered in the differential include:
Other diseases which should be considered in the differential include:<ref name="pmid7886607">Hathaway WE (1993) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=7886607 Vitamin K deficiency.] ''Southeast Asian J Trop Med Public Health'' 24 Suppl 1 ():5-9. PMID: [https://pubmed.gov/7886607 7886607]</ref><ref name="pmid24014073">Santagostino E, Fasulo MR (2013) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=24014073 Hemophilia a and hemophilia B: different types of diseases?] ''Semin Thromb Hemost'' 39 (7):697-701. [http://dx.doi.org/10.1055/s-0033-1353996 DOI:10.1055/s-0033-1353996] PMID: [https://pubmed.gov/24014073 24014073]</ref><ref name="pmid25976956">{{cite journal| author=Israels SJ| title=Laboratory testing for platelet function disorders. | journal=Int J Lab Hematol | year= 2015 | volume= 37 Suppl 1 | issue=  | pages= 18-24 | pmid=25976956 | doi=10.1111/ijlh.12346 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25976956  }}</ref><ref name="pmid199944">Lechner K, Niessner H, Thaler E (1977) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=199944 Coagulation abnormalities in liver disease.] ''Semin Thromb Hemost'' 4 (1):40-56. PMID: [https://pubmed.gov/199944 199944]</ref><ref name="pmid25408749">Buga-Corbu I, Arion C (2014) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=25408749 Up to date concepts about Von Willebrand disease and the diagnose of this hemostatic disorder.] ''J Med Life'' 7 (3):327-34. PMID: [https://pubmed.gov/25408749 25408749]</ref><ref name="pmid16086639">Giangrande P (2005) [https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&retmode=ref&cmd=prlinks&id=16086639 Haemophilia B: Christmas disease.] ''Expert Opin Pharmacother'' 6 (9):1517-24. [http://dx.doi.org/10.1517/14656566.6.9.1517 DOI:10.1517/14656566.6.9.1517] PMID: [https://pubmed.gov/16086639 16086639]</ref><ref>Deaton JG, Bhimji SS. Toxicity, Warfarin. [Updated 2017 May 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.Available from: <nowiki>https://www.ncbi.nlm.nih.gov/books/NBK431112/</nowiki></ref>
*[[Warfarin]] toxicity
*[[Warfarin]] toxicity
*[[Liver disease]]
*[[Liver disease]]
*[[Vitamin K]] deficiency
*[[Vitamin K]] deficiency
 
*[[Platelet disorder|Platelet disorders]]
<small><small>
{|
|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Diseases
| colspan="6" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Clinical manifestations'''
! colspan="9" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Para-clinical findings
! rowspan="4" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Additional findings
|-
| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Symptoms'''
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical examination
|-
! colspan="9" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
|-
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Joint Bleeding
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gastrointestinal bleeding
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Genitourinary Bleeding
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skin Bruises
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skeletal deformity
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Muscle hematoma
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PT
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PTT
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |BT
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Factor VIII
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Factor IX
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fibrinogen
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |U/A:RBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |S/E:RBC
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia A
| style="background: #F5F5F5; padding: 5px; text-align: center;" |        '''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |      '''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |          '''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |  '''<big>↓</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia B
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[von Willebrand disease]]
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |  '''<big>↓/</big>N'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Vitamin K deficiency
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Mostly in Infants/GI disorders
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Warfarin Toxicity
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |  '''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" | +Drug history
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Platelets disorders
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓Plt</big>'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''N'''
! style="background: #F5F5F5; padding: 5px; text-align: center;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Cause-based Specific findings
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |Liver Failure
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓Plt/N</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Neurological findings/Ascitis
|}
</small></small>
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 09:16, 29 January 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D. Fahd Yunus, M.D. [2]

Overview

Hemophilia must be differentiated from other diseases that cause abnormal or excessive bleeding.[1]

Differentiating Hemophilia A from other Diseases

The most important differential diagnosis of Hemophilia A is that of hemophilia B (also known as Christmas disease) or von Willebrand disease (the most common hereditary clotting disorder). The former is usually considered if factor VIII levels are normal in a person with a hemophilia phenotype. The latter is excluded on routine testing for that condition.

Differential Diagnosis

Other diseases which should be considered in the differential include:[2][3][4][5][6][7][8]

Diseases Clinical manifestations Para-clinical findings Additional findings
Symptoms Physical examination
Lab Findings
Joint Bleeding Gastrointestinal bleeding Genitourinary Bleeding Skin Bruises Skeletal deformity Muscle hematoma CBC PT PTT BT Factor VIII Factor IX Fibrinogen U/A:RBC S/E:RBC
Hemophilia A + + + + + + N N ↑ N ↓ N N + + -/+Family history
Hemophilia B + + + + + + N N ↑ N N ↓ N + + -/+Family history
von Willebrand disease -/+ -/+ -/+ -/+ -/+ -/+ N N ↑/N ↑ ↓/N N N -/+ -/+ -/+Family history
Vitamin K deficiency -/+ + -/+ + - -/+ N ↑ ↑/N N N ↓ N + + Mostly in Infants/GI disorders
Warfarin Toxicity -/+ + -/+ + - -/+ N ↑ ↑/N N N ↓ N + + +Drug history
Platelets disorders - -/+ -/+ + - - ↓Plt N N ↑ N N N -/+ -/+ Cause-based Specific findings
Liver Failure - + + -/+ - -/+ ↓Plt/N ↑ ↑ ↑/N ↑/N ↓ ↑/N -/+ + Neurological findings/Ascitis

References

  1. ↑ Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/
  2. ↑ Hathaway WE (1993) Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607
  3. ↑ Santagostino E, Fasulo MR (2013) Hemophilia a and hemophilia B: different types of diseases? Semin Thromb Hemost 39 (7):697-701. DOI:10.1055/s-0033-1353996 PMID: 24014073
  4. ↑ Israels SJ (2015). "Laboratory testing for platelet function disorders". Int J Lab Hematol. 37 Suppl 1: 18–24. doi:10.1111/ijlh.12346. PMID 25976956.
  5. ↑ Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944
  6. ↑ Buga-Corbu I, Arion C (2014) Up to date concepts about Von Willebrand disease and the diagnose of this hemostatic disorder. J Med Life 7 (3):327-34. PMID: 25408749
  7. ↑ Giangrande P (2005) Haemophilia B: Christmas disease. Expert Opin Pharmacother 6 (9):1517-24. DOI:10.1517/14656566.6.9.1517 PMID: 16086639
  8. ↑ Deaton JG, Bhimji SS. Toxicity, Warfarin. [Updated 2017 May 23]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2018 Jan-.Available from: https://www.ncbi.nlm.nih.gov/books/NBK431112/

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