Hemophilia history and symptoms: Difference between revisions

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Patients with hemophilia can present with a history of excessive bleeding after minor injuries or spontaneous bleeding. They can also report family history of hemophilia. Hemophilia when mild, can be asymptomatic. Common symptoms, when present, include epistaxis, oral mucosal bleeding, joint pain and swelling, lethargy and fatigue, excessive bleeding after dental procedures, prolonged bleeding after circumcision and muscle hematoma after vaccination.
Patients with hemophilia can present with a history of excessive bleeding after minor injuries or spontaneous bleeding. They can also report family history of hemophilia. Hemophilia when mild, can be asymptomatic. Common symptoms, when present, include epistaxis, oral mucosal bleeding, joint pain and swelling, lethargy and fatigue, excessive bleeding after dental procedures, prolonged bleeding after circumcision and muscle hematoma after vaccination.
==History and Symptoms==
==History and Symptoms==
===History===
Patients with hemophilia may have a positive history of:
Patients with hemophilia may have a positive history of:
*Easy bruising<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref>
*Easy bruising<ref name="pmid30129541">{{cite journal |vauthors=Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A |title=Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia |journal=Indian Pediatr |volume=55 |issue=7 |pages=582–590 |date=July 2018 |pmid=30129541 |doi= |url=}}</ref>
Line 14: Line 15:
:*Cutaneous warmth<ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref>
:*Cutaneous warmth<ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref>
:*Joint swelling<ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref>
:*Joint swelling<ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref>
*Patients with intracranial bleeds can present with a history of:
:*Seizures<ref name="pmid30246038">{{cite journal |vauthors=Moreira A, Das H |title=Acute Life-Threatening Hemorrhage in Neonates With Severe Hemophilia A: A Report of 3 Cases |journal=J Investig Med High Impact Case Rep |volume=6 |issue= |pages=2324709618800349 |date=2018 |pmid=30246038 |pmc=6144491 |doi=10.1177/2324709618800349 |url=}}</ref>
:*Headache<ref name="pmid28901996">{{cite journal |vauthors=Tabibian S, Motlagh H, Naderi M, Dorgalaleh A |title=Intracranial hemorrhage in congenital bleeding disorders |journal=Blood Coagul. Fibrinolysis |volume=29 |issue=1 |pages=1–11 |date=January 2018 |pmid=28901996 |doi=10.1097/MBC.0000000000000660 |url=}}</ref>
:*Double vision
:*Vomiting<ref name="pmid28901996">{{cite journal |vauthors=Tabibian S, Motlagh H, Naderi M, Dorgalaleh A |title=Intracranial hemorrhage in congenital bleeding disorders |journal=Blood Coagul. Fibrinolysis |volume=29 |issue=1 |pages=1–11 |date=January 2018 |pmid=28901996 |doi=10.1097/MBC.0000000000000660 |url=}}</ref>
:*Unconciousness<ref name="pmid28901996">{{cite journal |vauthors=Tabibian S, Motlagh H, Naderi M, Dorgalaleh A |title=Intracranial hemorrhage in congenital bleeding disorders |journal=Blood Coagul. Fibrinolysis |volume=29 |issue=1 |pages=1–11 |date=January 2018 |pmid=28901996 |doi=10.1097/MBC.0000000000000660 |url=}}</ref>
===Common Symptoms===
'''Central nervous system'''
*Seizures<ref name="pmid22385799">{{cite journal |vauthors=Peltier J, Baroncini M, Thines L, Leteurtre S, Marey A, Vinchon M |title=[Haemophilia A and intracranial bleedings in infants] |language=French |journal=Neurochirurgie |volume=58 |issue=1 |pages=19–24 |date=February 2012 |pmid=22385799 |doi=10.1016/j.neuchi.2012.01.003 |url=}}</ref><ref name="pmid30246038">{{cite journal |vauthors=Moreira A, Das H |title=Acute Life-Threatening Hemorrhage in Neonates With Severe Hemophilia A: A Report of 3 Cases |journal=J Investig Med High Impact Case Rep |volume=6 |issue= |pages=2324709618800349 |date=2018 |pmid=30246038 |pmc=6144491 |doi=10.1177/2324709618800349 |url=}}</ref>
*Weakness<ref name="pmid22385799">{{cite journal |vauthors=Peltier J, Baroncini M, Thines L, Leteurtre S, Marey A, Vinchon M |title=[Haemophilia A and intracranial bleedings in infants] |language=French |journal=Neurochirurgie |volume=58 |issue=1 |pages=19–24 |date=February 2012 |pmid=22385799 |doi=10.1016/j.neuchi.2012.01.003 |url=}}</ref><ref name="pmid10445891">{{cite journal |vauthors=Kulkarni R, Lusher JM |title=Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature |journal=J. Pediatr. Hematol. Oncol. |volume=21 |issue=4 |pages=289–95 |date=1999 |pmid=10445891 |doi= |url=}}</ref><ref name="pmid29125443">{{cite journal |vauthors=Zakaria Z, Kaliaperumal C, Crimmins D, Caird J |title=Neurosurgical management in children with bleeding diathesis: auditing neurological outcome |journal=J Neurosurg Pediatr |volume=21 |issue=1 |pages=38–43 |date=January 2018 |pmid=29125443 |doi=10.3171/2017.6.PEDS16574 |url=}}</ref>
*Hypothermia<ref name="pmid22385799">{{cite journal |vauthors=Peltier J, Baroncini M, Thines L, Leteurtre S, Marey A, Vinchon M |title=[Haemophilia A and intracranial bleedings in infants] |language=French |journal=Neurochirurgie |volume=58 |issue=1 |pages=19–24 |date=February 2012 |pmid=22385799 |doi=10.1016/j.neuchi.2012.01.003 |url=}}</ref>
*Pupillary changes<ref name="pmid22385799">{{cite journal |vauthors=Peltier J, Baroncini M, Thines L, Leteurtre S, Marey A, Vinchon M |title=[Haemophilia A and intracranial bleedings in infants] |language=French |journal=Neurochirurgie |volume=58 |issue=1 |pages=19–24 |date=February 2012 |pmid=22385799 |doi=10.1016/j.neuchi.2012.01.003 |url=}}</ref>
*Vomiting<ref name="pmid28901996">{{cite journal |vauthors=Tabibian S, Motlagh H, Naderi M, Dorgalaleh A |title=Intracranial hemorrhage in congenital bleeding disorders |journal=Blood Coagul. Fibrinolysis |volume=29 |issue=1 |pages=1–11 |date=January 2018 |pmid=28901996 |doi=10.1097/MBC.0000000000000660 |url=}}</ref>
*Unconciousness<ref name="pmid28901996">{{cite journal |vauthors=Tabibian S, Motlagh H, Naderi M, Dorgalaleh A |title=Intracranial hemorrhage in congenital bleeding disorders |journal=Blood Coagul. Fibrinolysis |volume=29 |issue=1 |pages=1–11 |date=January 2018 |pmid=28901996 |doi=10.1097/MBC.0000000000000660 |url=}}</ref><ref name="pmid10445891">{{cite journal |vauthors=Kulkarni R, Lusher JM |title=Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature |journal=J. Pediatr. Hematol. Oncol. |volume=21 |issue=4 |pages=289–95 |date=1999 |pmid=10445891 |doi= |url=}}</ref>
'''Musculoskeletal'''
*Joint pain and discomfort<ref name="BerntorpShapiro2012">{{cite journal|last1=Berntorp|first1=Erik|last2=Shapiro|first2=Amy D|title=Modern haemophilia care|journal=The Lancet|volume=379|issue=9824|year=2012|pages=1447–1456|issn=01406736|doi=10.1016/S0140-6736(11)61139-2}}</ref><ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref><ref name="pmid26733762">{{cite journal |vauthors=Goto M, Takedani H, Nitta O, Kawama K |title=Joint Function and Arthropathy Severity in Patients with Hemophilia |journal=J Jpn Phys Ther Assoc |volume=18 |issue=1 |pages=15–22 |date=2015 |pmid=26733762 |doi=10.1298/jjpta.18.15 |url=}}</ref><ref name="pmid27073678">{{cite journal |vauthors=Arpaci T, Sasmaz I, Akbas T, Eken A, Ozgur A, Antmen B |title=Bilateral recurrent external obturator muscle hematoma: An unusual cause of pelvic pain in hemophilia |journal=Mol Clin Oncol |volume=4 |issue=4 |pages=622–624 |date=April 2016 |pmid=27073678 |pmc=4812266 |doi=10.3892/mco.2016.736 |url=}}</ref>
*Joint motion limitation<ref name="pmid27073678">{{cite journal |vauthors=Arpaci T, Sasmaz I, Akbas T, Eken A, Ozgur A, Antmen B |title=Bilateral recurrent external obturator muscle hematoma: An unusual cause of pelvic pain in hemophilia |journal=Mol Clin Oncol |volume=4 |issue=4 |pages=622–624 |date=April 2016 |pmid=27073678 |pmc=4812266 |doi=10.3892/mco.2016.736 |url=}}</ref>
*Muscle weakness<ref name="pmid26733762">{{cite journal |vauthors=Goto M, Takedani H, Nitta O, Kawama K |title=Joint Function and Arthropathy Severity in Patients with Hemophilia |journal=J Jpn Phys Ther Assoc |volume=18 |issue=1 |pages=15–22 |date=2015 |pmid=26733762 |doi=10.1298/jjpta.18.15 |url=}}</ref>
*Muscle swelling, pain, and tenderness<ref name="pmid24914744">{{cite journal |vauthors=De la Corte-Rodriguez H, Rodriguez-Merchan EC |title=Treatment of muscle haematomas in haemophiliacs with special emphasis on percutaneous drainage |journal=Blood Coagul. Fibrinolysis |volume=25 |issue=8 |pages=787–94 |date=December 2014 |pmid=24914744 |doi=10.1097/MBC.0000000000000159 |url=}}</ref><ref>{{cite book | last = Peterson | first = Lars | title = Sports injuries : their prevention and treatment | publisher = Martin Dunitz | location = London | year = 2001 | isbn = 0203419561 }}</ref><ref name="pmid27853081">{{cite journal |vauthors=Tsuyama N, Ichiba T, Naito H |title=Unusual Initial Manifestation of Acquired Hemophilia A: A Normal Activated Partial Thromboplastin Time, Intramuscular Hematoma and Cerebral Hemorrhage |journal=Intern. Med. |volume=55 |issue=22 |pages=3347–3349 |date=2016 |pmid=27853081 |pmc=5173506 |doi=10.2169/internalmedicine.55.7219 |url=}}</ref><ref name="PitcherBowley2002">{{cite journal|last1=Pitcher|first1=G. J.|last2=Bowley|first2=D. M. G.|last3=Chasumba|first3=G.|last4=Zuckerman|first4=M.|title=Life-threatening haemorrhage from a gastric Dieulafoy lesion in a child with haemophilia|journal=Haemophilia|volume=8|issue=5|year=2002|pages=719–720|issn=1351-8216|doi=10.1046/j.1365-2516.2002.00675.x}}</ref>
*Cutaneous warmth<ref name="FranchiniMannucci2013">{{cite journal|last1=Franchini|first1=Massimo|last2=Mannucci|first2=Pier Mannuccio|title=Hemophilia A in the third millennium|journal=Blood Reviews|volume=27|issue=4|year=2013|pages=179–184|issn=0268960X|doi=10.1016/j.blre.2013.06.002}}</ref>
'''Gastrointestinal'''
*Bloody vomiting<ref name="pmid24501339">{{cite journal |vauthors=McCain S, Gull S, Ahmad J, Carey D |title=Acquired hemophilia A as a cause of acute upper gastrointestinal hemorrhage |journal=BMJ Case Rep |volume=2014 |issue= |pages= |date=February 2014 |pmid=24501339 |pmc=3918626 |doi=10.1136/bcr-2013-203179 |url=}}</ref><ref name="pmid11122397">{{cite journal |vauthors=Toyoda H, Fukuda Y, Nakano I, Katano Y, Ebata M, Nagano K, Morita K, Yokozaki S, Takeuchi M, Hayakawa T, Takamatsu J |title=Massive bleeding from a gastric erosion after transcatheter arterial chemoembolization for hepatocellular carcinoma in a patient with mild haemophilia A |journal=Haemophilia |volume=6 |issue=6 |pages=688–92 |date=November 2000 |pmid=11122397 |doi= |url=}}</ref>
*Bloody stool<ref name="pmid11122397">{{cite journal |vauthors=Toyoda H, Fukuda Y, Nakano I, Katano Y, Ebata M, Nagano K, Morita K, Yokozaki S, Takeuchi M, Hayakawa T, Takamatsu J |title=Massive bleeding from a gastric erosion after transcatheter arterial chemoembolization for hepatocellular carcinoma in a patient with mild haemophilia A |journal=Haemophilia |volume=6 |issue=6 |pages=688–92 |date=November 2000 |pmid=11122397 |doi= |url=}}</ref>
'''Genitourinary'''
*


==References==
==References==

Revision as of 22:24, 18 January 2019

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Patients with hemophilia can present with a history of excessive bleeding after minor injuries or spontaneous bleeding. They can also report family history of hemophilia. Hemophilia when mild, can be asymptomatic. Common symptoms, when present, include epistaxis, oral mucosal bleeding, joint pain and swelling, lethargy and fatigue, excessive bleeding after dental procedures, prolonged bleeding after circumcision and muscle hematoma after vaccination.

History and Symptoms

History

Patients with hemophilia may have a positive history of:

  • Easy bruising[1]
  • Prolonged excessive bleeds following surgery or trauma[1]
  • Unprovoked deep-seated bleeds[1]
  • Patients with hemarthroses can present with:
  • Joint motion limitation[2]
  • Pain, and discomfort[2][3]
  • Cutaneous warmth[3]
  • Joint swelling[3]
  • Patients with intracranial bleeds can present with a history of:
  • Seizures[4]
  • Headache[5]
  • Double vision
  • Vomiting[5]
  • Unconciousness[5]

Common Symptoms

Central nervous system

Musculoskeletal

Gastrointestinal

Genitourinary

References

  1. 1.0 1.1 1.2 Sachdeva A, Gunasekaran V, Ramya HN, Dass J, Kotwal J, Seth T, Das S, Garg K, Kalra M, Sirisha RS, Prakash A (July 2018). "Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia". Indian Pediatr. 55 (7): 582–590. PMID 30129541.
  2. 2.0 2.1 2.2 Berntorp, Erik; Shapiro, Amy D (2012). "Modern haemophilia care". The Lancet. 379 (9824): 1447–1456. doi:10.1016/S0140-6736(11)61139-2. ISSN 0140-6736.
  3. 3.0 3.1 3.2 3.3 3.4 Franchini, Massimo; Mannucci, Pier Mannuccio (2013). "Hemophilia A in the third millennium". Blood Reviews. 27 (4): 179–184. doi:10.1016/j.blre.2013.06.002. ISSN 0268-960X.
  4. 4.0 4.1 Moreira A, Das H (2018). "Acute Life-Threatening Hemorrhage in Neonates With Severe Hemophilia A: A Report of 3 Cases". J Investig Med High Impact Case Rep. 6: 2324709618800349. doi:10.1177/2324709618800349. PMC 6144491. PMID 30246038.
  5. 5.0 5.1 5.2 5.3 5.4 Tabibian S, Motlagh H, Naderi M, Dorgalaleh A (January 2018). "Intracranial hemorrhage in congenital bleeding disorders". Blood Coagul. Fibrinolysis. 29 (1): 1–11. doi:10.1097/MBC.0000000000000660. PMID 28901996.
  6. 6.0 6.1 6.2 6.3 Peltier J, Baroncini M, Thines L, Leteurtre S, Marey A, Vinchon M (February 2012). "[Haemophilia A and intracranial bleedings in infants]". Neurochirurgie (in French). 58 (1): 19–24. doi:10.1016/j.neuchi.2012.01.003. PMID 22385799.
  7. 7.0 7.1 Kulkarni R, Lusher JM (1999). "Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature". J. Pediatr. Hematol. Oncol. 21 (4): 289–95. PMID 10445891.
  8. Zakaria Z, Kaliaperumal C, Crimmins D, Caird J (January 2018). "Neurosurgical management in children with bleeding diathesis: auditing neurological outcome". J Neurosurg Pediatr. 21 (1): 38–43. doi:10.3171/2017.6.PEDS16574. PMID 29125443.
  9. 9.0 9.1 Goto M, Takedani H, Nitta O, Kawama K (2015). "Joint Function and Arthropathy Severity in Patients with Hemophilia". J Jpn Phys Ther Assoc. 18 (1): 15–22. doi:10.1298/jjpta.18.15. PMID 26733762.
  10. 10.0 10.1 Arpaci T, Sasmaz I, Akbas T, Eken A, Ozgur A, Antmen B (April 2016). "Bilateral recurrent external obturator muscle hematoma: An unusual cause of pelvic pain in hemophilia". Mol Clin Oncol. 4 (4): 622–624. doi:10.3892/mco.2016.736. PMC 4812266. PMID 27073678.
  11. De la Corte-Rodriguez H, Rodriguez-Merchan EC (December 2014). "Treatment of muscle haematomas in haemophiliacs with special emphasis on percutaneous drainage". Blood Coagul. Fibrinolysis. 25 (8): 787–94. doi:10.1097/MBC.0000000000000159. PMID 24914744.
  12. Peterson, Lars (2001). Sports injuries : their prevention and treatment. London: Martin Dunitz. ISBN 0203419561.
  13. Tsuyama N, Ichiba T, Naito H (2016). "Unusual Initial Manifestation of Acquired Hemophilia A: A Normal Activated Partial Thromboplastin Time, Intramuscular Hematoma and Cerebral Hemorrhage". Intern. Med. 55 (22): 3347–3349. doi:10.2169/internalmedicine.55.7219. PMC 5173506. PMID 27853081.
  14. Pitcher, G. J.; Bowley, D. M. G.; Chasumba, G.; Zuckerman, M. (2002). "Life-threatening haemorrhage from a gastric Dieulafoy lesion in a child with haemophilia". Haemophilia. 8 (5): 719–720. doi:10.1046/j.1365-2516.2002.00675.x. ISSN 1351-8216.
  15. McCain S, Gull S, Ahmad J, Carey D (February 2014). "Acquired hemophilia A as a cause of acute upper gastrointestinal hemorrhage". BMJ Case Rep. 2014. doi:10.1136/bcr-2013-203179. PMC 3918626. PMID 24501339.
  16. 16.0 16.1 Toyoda H, Fukuda Y, Nakano I, Katano Y, Ebata M, Nagano K, Morita K, Yokozaki S, Takeuchi M, Hayakawa T, Takamatsu J (November 2000). "Massive bleeding from a gastric erosion after transcatheter arterial chemoembolization for hepatocellular carcinoma in a patient with mild haemophilia A". Haemophilia. 6 (6): 688–92. PMID 11122397.

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