Hemophilia A differential diagnosis: Difference between revisions

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Revision as of 08:11, 14 July 2018

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

Overview

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

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.

Differential Diagnosis

Other diseases which should be considered in the differential include:

Warfarin toxicity
Liver disease
Vitamin K deficiency

	Symptoms			Physical examination			Lab Findings
Diseases	Clinical manifestations						Para-clinical findings									Additional findings
	Symptoms			Physical examination			Para-clinical 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

↑ 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/

Template:WH Template:WS

[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/

[1]

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-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia B
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 | style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
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-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |[[von Willebrand disease]]
@@ Line 94: / Line 94: @@
 | 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;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | -/+Family history
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Vitamin K deficiency
@@ Line 112: / Line 112: @@
 | 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;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |Mostly in Infants/GI disorders
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Warfarin Toxicity
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 | 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;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" | +Drug history
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Platelets disorders
@@ Line 148: / Line 148: @@
 | 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;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |Cause-based Specific findings
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Liver Failure
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 | 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;" |
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |Neurological findings/Ascitis
 |}