Hemophilia A differential diagnosis: Difference between revisions

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Revision as of 07:05, 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	+	+
Hemophilia B	+	+	+	+	+	+	N	N	↑	N	N	↓	N	+	+
von Willebrand disease	-/+	-/+	-/+	-/+	-/+	-/+	N	N	↑/N	↑	↓/N	N
Vitamin K deficiency	-/+	-/+	-/+	+	-		N	↑	↑	N	N	↓	N	+	+
Warfarin Toxicity	-/+	+	+	+	-	-/+	N	↑	↑	N	N	↓	N	+	+
Platelets disorders	-	+	-/+		-		↓Plt	N	N		↓	↑/N	↑
Liver Failure	-	+	-/+	-/+	-	-/+	↓Plt/N	↑	↑	↑/N	↑/N	↓	↑/N	+	+

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]

@@ Line 28: / Line 28: @@
 ! 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
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |
+! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skeletal deformity
-! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Muscle hematoma
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
 ! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PT
@@ Line 39: / Line 39: @@
 ! 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
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |U/A:RBC
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |S/E
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |S/E:RBC
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia A
@@ Line 46: / Line 46: @@
 | 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>'''
-| 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;" |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;" |    '''<big>↓/</big>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;" |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;" |
+| 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;" |
 |-
 | 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;" |'''<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;" |<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;" |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;" |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;" |
+| 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;" |
 |-
 | 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;" |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;" |'''<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;" |'''<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;" |     '''<big>↓</big>'''
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
@@ Line 97: / Line 97: @@
 |-
 | 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;" |
 ! 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;" |<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;" |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;" |   <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;" |
+| 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;" |
 |-
@@ Line 117: / Line 117: @@
 | 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>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;" |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;" |       '''<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>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;" |N
-! style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| 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;" |'''<big>+</big>'''
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
@@ Line 136: / Line 136: @@
 | 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;" |
 | 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;" |'''<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;" |
-| 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>'''
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |   '''<big>↑/</big>N'''
@@ Line 151: / Line 151: @@
 |-
 | style="background: #DCDCDC; padding: 5px; text-align: center;" |Liver Failure
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| 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>↓</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>'''
+| 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>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;" |'''<big>↑/</big>N'''
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |
+| 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;" |'''<big>+</big>'''
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |}