Hemophilia differential diagnosis: Difference between revisions

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


==Overview==
==Overview==
Hemophilia must be differentiated from other diseases that lead to spontaneous bleeding and bleeding following injuries or surgery such as [[von Willebrand disease]], liver failure-early or end stage, [[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 C1INH deficiency.
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]].


==Differentiating Hemophilia with other Diseases==
==Differentiating Hemophilia from other Diseases==
**[[von Willebrand Disease]]
Hemophilia must be differentiated from other [[Disease|diseases]] leading to spontaneous [[bleeding]] and [[bleeding]] following [[Injury|injuries]] or [[surgery]] such as:
**[[vitamin K deficiency]] or [[Warfarin]]  
*[[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>
**Lupus Anticoagulant
*[[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>
**[[Heparin]] Administration
*[[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>
**[[Disseminated Intravascular Coagulation]]
*[[Heparin]] administration
**Dysfibrinogenemia
*[[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>
**Thrombocytopenia
*[[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>
**Early liver failure
*[[Thrombocytopenia]]
**End-staged liver failure
*[[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>
**[[Uremia]]
*[[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
*[[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>
**[[Factor V]] deficiency
*[[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>
**Amyloid purpura
*[[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>
**[[Glanzmann's thrombasthenia]]
*[[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>
**Bernard-soulier syndrome
*[[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>
**[[Factor XII]] deficiency
*[[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>
**C1INH deficiency<ref>{{Cite web | title =Wikipedia Hemophilia Differential diagnosis| url =https://en.wikipedia.org/wiki/Haemophilia }}</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>
 
'''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="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;" |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
! 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="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>'''
| 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;" |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="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;" |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="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;" |'''<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="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;" |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="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>'''
| 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>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="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>'''
| 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</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="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;" |'''<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>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>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |'''<big>+</big>'''
| style="background: #F5F5F5; padding: 5px; text-align: center;" |Neurological findings/Ascites
|}


==References==
==References==

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

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  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.
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  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.
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  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.
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  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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