Hemophilia A differential diagnosis: Difference between revisions

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*[[Liver disease]]
*[[Liver disease]]
*[[Vitamin K]] deficiency
*[[Vitamin K]] deficiency
<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;" |Dehydration
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lethargy
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Musculoskeletal pain
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Blood Pressure
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Edema
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Growth
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Proteinuria
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Aminoaciduria
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum Phosphate
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum [Na<sup>+</sup>]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum [K<sup>+</sup>]
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Anion Gap
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Serum PH
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Urine PH
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Urine [Ca<sup>2+</sup>]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Fanconi syndrome|Fanconi Syndrome]]
| 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;" |        '''<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;" |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;" |  '''<big>↑/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Osteomalacia]]/[[Rickets]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|Proximal RTA]]
| 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;" |'''<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;" |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;" |N
| style="background: #F5F5F5; padding: 5px; text-align: center;" |High fractional [[Bicarbonate|HCO3<sup>-</sup>]] excretion
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|Distal RTA]]
| 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;" |'''<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;" |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;" |    '''<big>↑</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Kidney stone|Nephrplithiasis]]/
[[Osteomalacia]]/[[Rickets]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[RTA|RTA Type IV]]
| 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;" |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;" |  <small>5.5</small>'''<big>↓</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓/</big>N'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Hypoaldosteronism|Hyporeninemic Hypoaldosteronism]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Nephrotic syndrome|Nephrotic Syndrome]]
| 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;" |    '''<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;" |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;" |[[Hyperlipidemia (patient information)|Hyperlipidemia]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Gitelman syndrome]]
| 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>'''
| 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'''
| 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;" |      '''<big>↓</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Often [[asymptomatic]]
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Bartter's  syndrome]]
| 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>↓/</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;" |<small>5.5</small><big>'''↑'''</big>
| style="background: #F5F5F5; padding: 5px; text-align: center;" |      '''<big>↑</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |[[Kidney stone|Nephrplithiasis]]/[[Rickets]]
|}
</small></small>


==References==
==References==

Revision as of 04:30, 14 July 2018

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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:

Diseases Clinical manifestations Para-clinical findings Additional findings
Symptoms Physical examination
Lab Findings
Dehydration Lethargy Musculoskeletal pain Blood Pressure Edema Growth Proteinuria Aminoaciduria Serum Phosphate Serum [Na+] Serum [K+] Anion Gap Serum PH Urine PH Urine [Ca2+]
Fanconi Syndrome + + + ↓/N - ↓ + + ↓ ↓/N ↓/N N ↓ 5.5↓ ↑/N Osteomalacia/Rickets
Proximal RTA - -/+ -/+ N - ↓/N - - N N ↓/N N ↓ 5.5↓ N High fractional HCO3- excretion
Distal RTA - -/+ -/+ N - ↓↓/N - - N N ↓/N N ↓ 5.5↑ ↑ Nephrplithiasis/

Osteomalacia/Rickets

RTA Type IV - -/+ -/+ N - N - - N ↓ ↓ ↑ ↑ N ↓ 5.5↓ ↓/N Hyporeninemic Hypoaldosteronism
Nephrotic Syndrome -/+ + - ↑/N + ↓ + - N ↓/N N ↓↓/N N N N Hyperlipidemia
Gitelman syndrome - + -/+ ↓ - N - - ↓ ↓/N ↓ ↑/N ↑ 5.5↑ ↓ Often asymptomatic
Bartter's syndrome + -/+ -/+ ↓ - ↓ - - ↓ ↓/N ↓ ↑/N ↑ 5.5↑ ↑ Nephrplithiasis/Rickets

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/

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