Hemophilia differential diagnosis: Difference between revisions

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__NOTOC__
__NOTOC__
{{Hemophilia}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Hemophilia]]
{{CMG}}
{{CMG}}; {{AE}} {{Sab}}{{Simrat}}{{VE}}{{FNY}}


==Overview==
==Overview==
==Differentiating Hemophilia with other Diseases==
Hemophilia must be differentiated from other diseases leading to spontaneous [[bleeding]] and [[bleeding]] following [[Injury|injuries]] or [[surgery]] such as [[von Willebrand disease]], [[hepatic failure]], [[thrombocytopenia]], [[vitamin K deficiency]], [[disseminated intravascular coagulation]], [[uremia]], [[congenital afibrinogenemia]], [[factor V]] [[deficiency]], [[factor X]] [[deficiency]] as seen in [[amyloid purpura]], [[glanzmann's thrombasthenia]],  [[Bernard-Soulier syndrome]], [[factor XII]] [[deficiency]] and [[C1-inhibitor|C1-inhibitor (C1INH)]] [[deficiency]].
Hemophilia A can be mimicked by [[von Willebrand Disease]]
 
* Von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 2A is inherited in an autosomal dominant fashion.
==Differentiating Hemophilia from other Diseases==
* Von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII
Hemophilia must be differentiated from other [[Disease|diseases]] leading to spontaneous [[bleeding]] and [[bleeding]] following [[Injury|injuries]] or [[surgery]] such as:
* Von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.
*[[Von Willebrand Disease]]<ref name="pmid27913546">{{cite journal |vauthors=Goodeve A |title=Diagnosing von Willebrand disease: genetic analysis |journal=Hematology Am Soc Hematol Educ Program |volume=2016 |issue=1 |pages=678–682 |date=December 2016 |pmid=27913546 |pmc=6065508 |doi=10.1182/asheducation-2016.1.678 |url=}}</ref><ref>{{cite journal|title=Diagnosis of von Willebrand's disease. A comparative study of diagnostic tests on nine families with von Willebrand's disease and its differential diagnosis from hemophilia and thrombocytopathy|journal=The American Journal of Medicine|volume=60|issue=3|year=1976|pages=A70|issn=00029343|doi=10.1016/0002-9343(76)90768-3}}</ref>
Additionally, severe cases of vitamin K deficiency can present similar symptoms to haemophilia. This is because vitamin K is necessary for the human body to produce several protein clotting factors. This vitamin deficiency is rare in adults and older children but is common in newborns. Infants are born with naturally low levels of vitamin K and do not yet have the symbiotic gut flora to properly synthesise their own vitamin K. Bleeding issues due to vitamin K deficiency in infants is known as "haemorrhagic disease of the newborn", to avoid this complication newborns are routinely injected with vitamin K supplements.
*[[Vitamin K deficiency]] or [[Warfarin]] use<ref name="pmid20630065">{{cite journal |vauthors=Napolitano M, Mariani G, Lapecorella M |title=Hereditary combined deficiency of the vitamin K-dependent clotting factors |journal=Orphanet J Rare Dis |volume=5 |issue= |pages=21 |date=July 2010 |pmid=20630065 |pmc=2913942 |doi=10.1186/1750-1172-5-21 |url=}}</ref><ref name="pmid27254626">{{cite journal |vauthors=Hart C, Schmid S |title=[Coagulation disorders in the intensive care unit - what is new?] |language=German |journal=Dtsch. Med. Wochenschr. |volume=141 |issue=11 |pages=777–80 |date=June 2016 |pmid=27254626 |doi=10.1055/s-0042-103058 |url=}}</ref>
*The other conditions to be considered includes the following:
*[[Lupus anticoagulant|Lupus Anticoagulant]]<ref name="pmid27182981">{{cite journal |vauthors=Kumano O, Ieko M, Naito S, Yoshida M, Takahashi N, Suzuki T, Komiyama Y |title=New formulas for mixing test to discriminate between lupus anticoagulant and acquired hemophilia A |journal=Thromb. Res. |volume=143 |issue= |pages=53–7 |date=July 2016 |pmid=27182981 |doi=10.1016/j.thromres.2016.05.004 |url=}}</ref>
**Lupus Anticoagulant
*[[Heparin]] administration
**Heparin Administration
*[[Disseminated Intravascular Coagulation|Disseminated intravascular coagulation]]<ref name="pmid28884611">{{cite journal |vauthors=Matsumoto T, Wada H, Fujimoto N, Toyoda J, Abe Y, Ohishi K, Yamashita Y, Ikejiri M, Hasegawa K, Suzuki K, Imai H, Nakatani K, Katayama N |title=An Evaluation of the Activated Partial Thromboplastin Time Waveform |journal=Clin. Appl. Thromb. Hemost. |volume=24 |issue=5 |pages=764–770 |date=July 2018 |pmid=28884611 |doi=10.1177/1076029617724230 |url=}}</ref>
**Disseminated Intravascular Coagulation
*[[Familial dysfibrinogenemia|Dysfibrinogenemia]]<ref name="pmid25982359">{{cite journal |vauthors=Hua B, Li K, Lee A, Poon MC, Zhao Y |title=Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family |journal=Haemophilia |volume=21 |issue=6 |pages=846–51 |date=November 2015 |pmid=25982359 |doi=10.1111/hae.12712 |url=}}</ref>
**Dysfibrinogenemia
*[[Thrombocytopenia]]
{| style="border: 0px; font-size: 90%; margin: 3px; width: 500px;" align=center
*[[Hepatic failure]]<ref name="pmid26819521">{{cite journal |vauthors=Hartmann M, Szalai C, Saner FH |title=Hemostasis in liver transplantation: Pathophysiology, monitoring, and treatment |journal=World J. Gastroenterol. |volume=22 |issue=4 |pages=1541–50 |date=January 2016 |pmid=26819521 |doi=10.3748/wjg.v22.i4.1541 |url=}}</ref><ref name="pmid29194678">{{cite journal |vauthors=Stravitz RT, Ellerbe C, Durkalski V, Schilsky M, Fontana RJ, Peterseim C, Lee WM |title=Bleeding complications in acute liver failure |journal=Hepatology |volume=67 |issue=5 |pages=1931–1942 |date=May 2018 |pmid=29194678 |doi=10.1002/hep.29694 |url=}}</ref><ref name="pmid27171213">{{cite journal |vauthors=Tischendorf M, Miesbach W, Chattah U, Chattah Z, Maier S, Welsch C, Zeuzem S, Lange CM |title=Differential Kinetics of Coagulation Factors and Natural Anticoagulants in Patients with Liver Cirrhosis: Potential Clinical Implications |journal=PLoS ONE |volume=11 |issue=5 |pages=e0155337 |date=2016 |pmid=27171213 |pmc=4865185 |doi=10.1371/journal.pone.0155337 |url=}}</ref>
|valign=top|
*[[Uremia]]<ref name="pmid3904449">{{cite journal |vauthors=Andrassy K, Ritz E |title=Uremia as a cause of bleeding |journal=Am. J. Nephrol. |volume=5 |issue=5 |pages=313–9 |date=1985 |pmid=3904449 |doi=10.1159/000166955 |url=}}</ref>
|+
*[[Congenital afibrinogenemia]]<ref name="pmid27253088">{{cite journal |vauthors=Santoro C, Massaro F, Venosi S, Capria S, Baldacci E, Foà R, Mazzucconi MG |title=Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma |journal=Semin. Thromb. Hemost. |volume=42 |issue=5 |pages=577–82 |date=July 2016 |pmid=27253088 |doi=10.1055/s-0036-1581103 |url=}}</ref><ref name="pmid27291795">{{cite journal |vauthors=Stanciakova L, Kubisz P, Dobrotova M, Stasko J |title=Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management |journal=Expert Rev Hematol |volume=9 |issue=7 |pages=639–48 |date=July 2016 |pmid=27291795 |doi=10.1080/17474086.2016.1200967 |url=}}</ref>
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Condition}}
*[[Factor V]] [[deficiency]]<ref name="pmid28904709">{{cite journal |vauthors=Boujrad S, El Hasbaoui B, Echahdi H, Malih M, Agadr A |title=[Factor V congenital deficiency: about a case] |language=French |journal=Pan Afr Med J |volume=27 |issue= |pages=182 |date=2017 |pmid=28904709 |pmc=5579429 |doi=10.11604/pamj.2017.27.182.12285 |url=}}</ref><ref name="pmid23893775">{{cite journal |vauthors=Thalji N, Camire RM |title=Parahemophilia: new insights into factor v deficiency |journal=Semin. Thromb. Hemost. |volume=39 |issue=6 |pages=607–12 |date=September 2013 |pmid=23893775 |doi=10.1055/s-0033-1349224 |url=}}</ref>
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Prothrombin time}}
*[[Amyloid purpura]]<ref name="pmid24975676">{{cite journal |vauthors=Colucci G, Alberio L, Demarmels Biasiutti F, Lämmle B |title=Bilateral periorbital ecchymoses. An often missed sign of amyloid purpura |journal=Hamostaseologie |volume=34 |issue=3 |pages=249–52 |date=2014 |pmid=24975676 |doi=10.5482/HAMO-14-03-0018 |url=}}</ref>
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Partial Thromboplastin Time}}
*[[Glanzmann's thrombasthenia]]<ref name="pmid27539755">{{cite journal |vauthors=Iqbal I, Farhan S, Ahmed N |title=Glanzmann Thrombasthenia: A Clinicopathological Profile |journal=J Coll Physicians Surg Pak |volume=26 |issue=8 |pages=647–50 |date=August 2016 |pmid=27539755 |doi=2396 |url=}}</ref>
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Bleeding Time}}
*[[Bernard-Soulier syndrome]]<ref name="pmid28131619">{{cite journal |vauthors=Boeckelmann D, Hengartner H, Greinacher A, Nowak-Göttl U, Sachs UJ, Peter K, Sandrock-Lang K, Zieger B |title=Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype |journal=Blood Cells Mol. Dis. |volume=67 |issue= |pages=69–74 |date=September 2017 |pmid=28131619 |doi=10.1016/j.bcmd.2017.01.010 |url=}}</ref><ref name="pmid23929303">{{cite journal |vauthors=Andrews RK, Berndt MC |title=Bernard-Soulier syndrome: an update |journal=Semin. Thromb. Hemost. |volume=39 |issue=6 |pages=656–62 |date=September 2013 |pmid=23929303 |doi=10.1055/s-0033-1353390 |url=}}</ref>
! style="background: #4479BA; width: 200px;" | {{fontcolor|#FFF|Platelet Count}}
*[[Factor XII]] [[deficiency]]<ref name="pmid30128221">{{cite journal |vauthors=Fernandes HD, Newton S, Rodrigues JM |title=Factor XII Deficiency Mimicking Bleeding Diathesis: A Unique Presentation and Diagnostic Pitfall |journal=Cureus |volume=10 |issue=6 |pages=e2817 |date=June 2018 |pmid=30128221 |pmc=6093754 |doi=10.7759/cureus.2817 |url=}}</ref><ref name="pmid28824910">{{cite journal |vauthors=Simão F, Feener EP |title=The Effects of the Contact Activation System on Hemorrhage |journal=Front Med (Lausanne) |volume=4 |issue= |pages=121 |date=2017 |pmid=28824910 |pmc=5534673 |doi=10.3389/fmed.2017.00121 |url=}}</ref>
|-
*[[C1-inhibitor|C1-inhibitor (C1INH)]] [[deficiency]]<ref name="pmid28687105">{{cite journal |vauthors=Otani IM, Banerji A |title=Acquired C1 Inhibitor Deficiency |journal=Immunol Allergy Clin North Am |volume=37 |issue=3 |pages=497–511 |date=August 2017 |pmid=28687105 |doi=10.1016/j.iac.2017.03.002 |url=}}</ref><ref name="pmid9151154">{{cite journal |vauthors=Castelli R, Cicardi M, Gardinali M, Zingale LC, Savi C, Munari M, Agostoni A |title=Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency |journal=Int J Artif Organs |volume=20 |issue=3 |pages=175–7 |date=March 1997 |pmid=9151154 |doi= |url=}}</ref>
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Heamophilia A or B
 
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
'''The most important differential diagnoses are enlisted in the table below:'''<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>
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected


{|
|- 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
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Von Willebrand Disease
| colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''Symptoms'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
! colspan="3" rowspan="2" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Physical Examination
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged or Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Thrombocytopenia
! colspan="9" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Lab Findings
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
|-
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Joint Bleeding
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
! colspan="1" rowspan="1" style="background: #4479BA; color: #FFFFFF; text-align: center;" |Gastrointestinal Bleeding
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
! 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;" |[[Urinalysis|U/A]]:RBC
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |S/E:RBC
|-
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Vitamin K deficiency or Warfarin
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia A
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |        '''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |      '''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |         '''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Disseminated Intravascular Coagulation
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Hemophilia B
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Liver failure, early
! style="background: #DCDCDC; padding: 5px; text-align: center;" |[[von Willebrand disease]]
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Aspirin
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Vitamin K deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Liver failure, end-stage
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Warfarin Toxicity
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |  '''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Uremia
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Platelets disorders
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| 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="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Congenital afibrinogenemia
! style="background: #DCDCDC; padding: 5px; text-align: center;" |Liver Failure
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
|-
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-</big>'''
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor V deficiency
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓Plt/N</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |<big>'''↑'''</big>
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
|-
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor X deficiency as seen in amyloid purpura
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↓</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>↑/</big>N'''
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>-/+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Neurological findings/Ascites
|-
|}
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Glanzmann's thrombasthenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Bernard-Soulier syndrome
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Factor XII deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | C1INH deficiency
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Thrombocytopenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Thrombocytopenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" | Thrombocytopenia
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Unaffected
| style="padding: 5px 5px; background: #F5F5F5;" |Prolonged
| style="padding: 5px 5px; background: #F5F5F5;" |Decreased
|-
 


| style="padding: 5px 5px; background: #F5F5F5;" colspan=2| <small>Adapted from Wikipedia hemophilia Laboratory Finding> {{cite web|  url=https://en.wikipedia.org/wiki/Haemophilia| title=Wikipedia Hemophilia Laboratory Finding  }}</small>
|}
==References==
==References==
{{reflist|2}}
{{reflist|2}}

Latest revision as of 18:45, 13 August 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sabawoon Mirwais, M.B.B.S, M.D.[2]Simrat Sarai, M.D. [3]Vahid Eidkhani, M.D.Fahd Yunus, M.D. [4]

Overview

Hemophilia must be differentiated from other diseases leading to spontaneous bleeding and bleeding following injuries or surgery such as von Willebrand disease, hepatic failure, thrombocytopenia, vitamin K deficiency, disseminated intravascular coagulation, uremia, congenital afibrinogenemia, factor V deficiency, factor X deficiency as seen in amyloid purpura, glanzmann's thrombasthenia, Bernard-Soulier syndrome, factor XII deficiency and C1-inhibitor (C1INH) deficiency.

Differentiating Hemophilia from other Diseases

Hemophilia must be differentiated from other diseases leading to spontaneous bleeding and bleeding following injuries or surgery such as:

The most important differential diagnoses are enlisted in the table below:[24][25][26][27][28][29][30]

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/Ascites

References

  1. ↑ Goodeve A (December 2016). "Diagnosing von Willebrand disease: genetic analysis". Hematology Am Soc Hematol Educ Program. 2016 (1): 678–682. doi:10.1182/asheducation-2016.1.678. PMC 6065508. PMID 27913546.
  2. ↑ "Diagnosis of von Willebrand's disease. A comparative study of diagnostic tests on nine families with von Willebrand's disease and its differential diagnosis from hemophilia and thrombocytopathy". The American Journal of Medicine. 60 (3): A70. 1976. doi:10.1016/0002-9343(76)90768-3. ISSN 0002-9343.
  3. ↑ Napolitano M, Mariani G, Lapecorella M (July 2010). "Hereditary combined deficiency of the vitamin K-dependent clotting factors". Orphanet J Rare Dis. 5: 21. doi:10.1186/1750-1172-5-21. PMC 2913942. PMID 20630065.
  4. ↑ Hart C, Schmid S (June 2016). "[Coagulation disorders in the intensive care unit - what is new?]". Dtsch. Med. Wochenschr. (in German). 141 (11): 777–80. doi:10.1055/s-0042-103058. PMID 27254626.
  5. ↑ Kumano O, Ieko M, Naito S, Yoshida M, Takahashi N, Suzuki T, Komiyama Y (July 2016). "New formulas for mixing test to discriminate between lupus anticoagulant and acquired hemophilia A". Thromb. Res. 143: 53–7. doi:10.1016/j.thromres.2016.05.004. PMID 27182981.
  6. ↑ Matsumoto T, Wada H, Fujimoto N, Toyoda J, Abe Y, Ohishi K, Yamashita Y, Ikejiri M, Hasegawa K, Suzuki K, Imai H, Nakatani K, Katayama N (July 2018). "An Evaluation of the Activated Partial Thromboplastin Time Waveform". Clin. Appl. Thromb. Hemost. 24 (5): 764–770. doi:10.1177/1076029617724230. PMID 28884611.
  7. ↑ Hua B, Li K, Lee A, Poon MC, Zhao Y (November 2015). "Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family". Haemophilia. 21 (6): 846–51. doi:10.1111/hae.12712. PMID 25982359.
  8. ↑ Hartmann M, Szalai C, Saner FH (January 2016). "Hemostasis in liver transplantation: Pathophysiology, monitoring, and treatment". World J. Gastroenterol. 22 (4): 1541–50. doi:10.3748/wjg.v22.i4.1541. PMID 26819521.
  9. ↑ Stravitz RT, Ellerbe C, Durkalski V, Schilsky M, Fontana RJ, Peterseim C, Lee WM (May 2018). "Bleeding complications in acute liver failure". Hepatology. 67 (5): 1931–1942. doi:10.1002/hep.29694. PMID 29194678.
  10. ↑ Tischendorf M, Miesbach W, Chattah U, Chattah Z, Maier S, Welsch C, Zeuzem S, Lange CM (2016). "Differential Kinetics of Coagulation Factors and Natural Anticoagulants in Patients with Liver Cirrhosis: Potential Clinical Implications". PLoS ONE. 11 (5): e0155337. doi:10.1371/journal.pone.0155337. PMC 4865185. PMID 27171213.
  11. ↑ Andrassy K, Ritz E (1985). "Uremia as a cause of bleeding". Am. J. Nephrol. 5 (5): 313–9. doi:10.1159/000166955. PMID 3904449.
  12. ↑ Santoro C, Massaro F, Venosi S, Capria S, Baldacci E, Foà R, Mazzucconi MG (July 2016). "Severe Thrombotic Complications in Congenital Afibrinogenemia: A Pathophysiological and Management Dilemma". Semin. Thromb. Hemost. 42 (5): 577–82. doi:10.1055/s-0036-1581103. PMID 27253088.
  13. ↑ Stanciakova L, Kubisz P, Dobrotova M, Stasko J (July 2016). "Congenital afibrinogenemia: from etiopathogenesis to challenging clinical management". Expert Rev Hematol. 9 (7): 639–48. doi:10.1080/17474086.2016.1200967. PMID 27291795.
  14. ↑ Boujrad S, El Hasbaoui B, Echahdi H, Malih M, Agadr A (2017). "[Factor V congenital deficiency: about a case]". Pan Afr Med J (in French). 27: 182. doi:10.11604/pamj.2017.27.182.12285. PMC 5579429. PMID 28904709.
  15. ↑ Thalji N, Camire RM (September 2013). "Parahemophilia: new insights into factor v deficiency". Semin. Thromb. Hemost. 39 (6): 607–12. doi:10.1055/s-0033-1349224. PMID 23893775.
  16. ↑ Colucci G, Alberio L, Demarmels Biasiutti F, Lämmle B (2014). "Bilateral periorbital ecchymoses. An often missed sign of amyloid purpura". Hamostaseologie. 34 (3): 249–52. doi:10.5482/HAMO-14-03-0018. PMID 24975676.
  17. ↑ Iqbal I, Farhan S, Ahmed N (August 2016). "Glanzmann Thrombasthenia: A Clinicopathological Profile". J Coll Physicians Surg Pak. 26 (8): 647–50. doi:2396 Check |doi= value (help). PMID 27539755.
  18. ↑ Boeckelmann D, Hengartner H, Greinacher A, Nowak-Göttl U, Sachs UJ, Peter K, Sandrock-Lang K, Zieger B (September 2017). "Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype". Blood Cells Mol. Dis. 67: 69–74. doi:10.1016/j.bcmd.2017.01.010. PMID 28131619.
  19. ↑ Andrews RK, Berndt MC (September 2013). "Bernard-Soulier syndrome: an update". Semin. Thromb. Hemost. 39 (6): 656–62. doi:10.1055/s-0033-1353390. PMID 23929303.
  20. ↑ Fernandes HD, Newton S, Rodrigues JM (June 2018). "Factor XII Deficiency Mimicking Bleeding Diathesis: A Unique Presentation and Diagnostic Pitfall". Cureus. 10 (6): e2817. doi:10.7759/cureus.2817. PMC 6093754. PMID 30128221.
  21. ↑ Simão F, Feener EP (2017). "The Effects of the Contact Activation System on Hemorrhage". Front Med (Lausanne). 4: 121. doi:10.3389/fmed.2017.00121. PMC 5534673. PMID 28824910.
  22. ↑ Otani IM, Banerji A (August 2017). "Acquired C1 Inhibitor Deficiency". Immunol Allergy Clin North Am. 37 (3): 497–511. doi:10.1016/j.iac.2017.03.002. PMID 28687105.
  23. ↑ Castelli R, Cicardi M, Gardinali M, Zingale LC, Savi C, Munari M, Agostoni A (March 1997). "Cardiopulmonary by-pass in a patient with acquired C1 inhibitor deficiency". Int J Artif Organs. 20 (3): 175–7. PMID 9151154.
  24. ↑ Hathaway WE (1993)Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607
  25. ↑ 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
  26. ↑ 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.
  27. ↑ Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944
  28. ↑ 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
  29. ↑ Giangrande P (2005) Haemophilia B: Christmas disease. Expert Opin Pharmacother 6 (9):1517-24. DOI:10.1517/14656566.6.9.1517 PMID: 16086639
  30. ↑ 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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