Hemophilia A differential diagnosis: Difference between revisions

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Revision as of 04:48, 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	Skin Bruises				CBC	PT	PTT	BT	Factor VIII	Factor IX	Fibrinogen	U/A	S/E
Hemophilia A	+	+	+	↓/N	-	↓	+	+	↓	↓/N	↓/N	N	↓
Hemophilia B	-	-/+	-/+	N	-	↓/N	-	-	N	N	↓/N	N	↓
von Willebrand disease	-	-/+	-/+	N	-	↓↓/N	-	-	N	N	↓/N	N	↓
Vitamin K deficiency	-	-/+	-/+	N	-	N	-	-	N	↓ ↓	↑ ↑	N	↓
Warfarin Toxicity	-/+	+	-	↑/N	+	↓	+	-	N	↓/N	N	↓↓/N	N
Platelets disorders	-	+	-/+	↓	-	N	-	-	↓	↓/N	↓	↑/N	↑
Liver Failure		-/+	-/+	↓	-	↓	-	-	↓	↓/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 4: / Line 4: @@
 ==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 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>
 ==Differentiating Hemophilia A from other Diseases==
@@ Line 26: / Line 26: @@
 ! colspan="9" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
 |-
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Dehydration
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Joint Bleeding
-! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lethargy
+! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gastrointestinal bleeding
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Musculoskeletal pain
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Skin Bruises
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Blood Pressure
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |
-! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Edema
+! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Growth
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Proteinuria
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |CBC
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Aminoaciduria
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PT
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Phosphate
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |PTT
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum [Na<sup>+</sup>]
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |BT
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum [K<sup>+</sup>]
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Factor VIII
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Anion Gap
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Factor IX
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum PH
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Fibrinogen
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Urine PH
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |U/A
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Urine [Ca<sup>2+</sup>]
+! style="background: #4479BA; color: #FFFFFF; text-align: center;" |S/E
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Fanconi syndrome|Fanconi Syndrome]]
+| 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>'''
@@ Line 56: / Line 56: @@
 ! 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;" |  <small>5.5</small>'''<big>↓</big>'''
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
-| 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;" |[[Osteomalacia]]/[[Rickets]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|Proximal RTA]]
+| 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>'''
@@ Line 74: / Line 74: @@
 ! 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;" |  <small>5.5</small>'''<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;" |
-| style="background: #F5F5F5; padding: 5px; text-align: center;" |High fractional [[Bicarbonate|HCO3<sup>-</sup>]] excretion
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|Distal RTA]]
+| 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>'''
@@ Line 92: / Line 92: @@
 ! 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;" |<small>5.5</small><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;" |[[Kidney stone|Nephrplithiasis]]/
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
-[[Osteomalacia]]/[[Rickets]]
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|RTA Type IV]]
+| 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>'''
@@ Line 111: / Line 110: @@
 ! 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;" |  <small>5.5</small>'''<big>↓</big>'''
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
-| 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;" |[[Hypoaldosteronism|Hyporeninemic Hypoaldosteronism]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Nephrotic syndrome|Nephrotic Syndrome]]
+| 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>'''
@@ Line 129: / Line 128: @@
 | 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;" |
-! 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;" |[[Hyperlipidemia (patient information)|Hyperlipidemia]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Gitelman syndrome]]
+| 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>'''
@@ Line 147: / Line 146: @@
 | 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;" |<small>5.5</small><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;" |Often [[asymptomatic]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |-
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Bartter's  syndrome]]
+| 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;" |
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
 | style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
@@ Line 165: / Line 164: @@
 | 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;" |<small>5.5</small><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;" |[[Kidney stone|Nephrplithiasis]]/[[Rickets]]
+| style="background: #F5F5F5; padding: 5px; text-align: center;" |
 |}