Hemophilia A differential diagnosis: Difference between revisions

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Revision as of 16:37, 19 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 must be differentiated from other diseases that cause abnormal or excessive bleeding.^[1]

Differentiating Hemophilia A from other Diseases

The most important differential diagnosis of Hemophilia A is that of hemophilia B (also known as Christmas disease) or von Willebrand disease (the most common hereditary clotting disorder). 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:^[2]^[3]^[4]^[5]

Warfarin toxicity
Liver disease
Vitamin K deficiency

	Symptoms			Physical examination			Lab Findings
Diseases	Clinical manifestations						Para-clinical findings									Additional findings
	Symptoms			Physical examination			Para-clinical findings
	Joint Bleeding	Gastrointestinal bleeding	Genitourinary Bleeding	Skin Bruises	Skeletal deformity	Muscle hematoma	CBC	PT	PTT	BT	Factor VIII	Factor IX	Fibrinogen	U/A:RBC	S/E:RBC
Hemophilia A	+	+	+	+	+	+	N	N	↑	N	↓	N	N	+	+	-/+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/Ascitis

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/
↑ Hathaway WE (1993) Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607
↑ 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
↑ 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.
↑ Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944

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[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/

[pmid7886607-2] Hathaway WE (1993) Vitamin K deficiency. Southeast Asian J Trop Med Public Health 24 Suppl 1 ():5-9. PMID: 7886607

[pmid24014073-3] 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

[pmid25976956-4] 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.

[pmid199944-5] Lechner K, Niessner H, Thaler E (1977) Coagulation abnormalities in liver disease. Semin Thromb Hemost 4 (1):40-56. PMID: 199944

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@@ Line 10: / Line 10: @@
 ==Differential Diagnosis==
-Other diseases which should be considered in the differential include:<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>
+Other diseases which should be considered in the differential include:<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>
 *[[Warfarin]] toxicity
 *[[Liver disease]]