Hemophilia history and symptoms

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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:

Male family members with uncontrollable bleeding episodes^[1]^[2]
Easy bruising^[3]
Prolonged excessive bleeds following surgery or trauma^[3]
Patients with hemarthroses can present with:

Joint motion limitation^[4]
Pain, and discomfort^[4]^[5]
Cutaneous warmth^[5]
Joint swelling^[5]

Patients with intracranial bleeds can present with a history of:

Common Symptoms

Central nervous system

Musculoskeletal

Joint pain and discomfort^[4]^[5]^[11]^[12]
Joint motion limitation^[12]
Muscle weakness^[11]
Muscle swelling, pain, and tenderness^[13]^[14]^[15]^[16]
Cutaneous warmth^[5]

Gastrointestinal

Genitourinary

Post-circumcision bleeding^[19]^[1]
Dark colored urine^[20]
Blood in urine^[20]^[21]^[22]

References

↑ ^1.0 ^1.1 Mannucci PM, Tuddenham EG (June 2001). "The hemophilias--from royal genes to gene therapy". N. Engl. J. Med. 344 (23): 1773–9. doi:10.1056/NEJM200106073442307. PMID 11396445.
↑ Ingram, G I (1976). "The history of haemophilia". Journal of Clinical Pathology. 29 (6): 469–479. doi:10.1136/jcp.29.6.469. ISSN 0021-9746.
↑ ^3.0 ^3.1 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.
↑ ^4.0 ^4.1 ^4.2 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.
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 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.
↑ ^6.0 ^6.1 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.
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 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.
↑ ^8.0 ^8.1 ^8.2 ^8.3 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.
↑ ^9.0 ^9.1 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.
↑ 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.
↑ ^11.0 ^11.1 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.
↑ ^12.0 ^12.1 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.
↑ 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.
↑ Peterson, Lars (2001). Sports injuries : their prevention and treatment. London: Martin Dunitz. ISBN 0203419561.
↑ 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.
↑ 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.
↑ 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.
↑ ^18.0 ^18.1 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.
↑ Mense L, Ferretti E, Ramphal R, Daboval T (September 2018). "A Newborn with Simmering Bleeding after Circumcision". Cureus. 10 (9): e3324. doi:10.7759/cureus.3324. PMC 6248866. PMID 30473957.
↑ ^20.0 ^20.1 Washino S, Hirai M, Kobayashi Y, Saito K, Miyagawa T (August 2015). "Heavy hematuria requiring cystectomy in a patient with hemophilia A: a case report and literature review". BMC Urol. 15: 84. doi:10.1186/s12894-015-0076-8. PMC 4535382. PMID 26268821.
↑ Yamaguchi T, Kudo N, Endo S, Usui T, Imashuku S (2018). "Management of Acquired Hemophilia A in Elderly Patients". Case Rep Hematol. 2018: 6757345. doi:10.1155/2018/6757345. PMC 6260550. PMID 30538871.
↑ Schmidt-Bowman M, Reinstatler L, Raffin EP, Yared JE, Seigne JD, Sverrisson EF (2018). "Acquired Hemophilia presenting as Gross Hematuria following Kidney Stone - A Case Report and Review of the Literature". Int Braz J Urol. 44 (2): 390–392. doi:10.1590/S1677-5538.IBJU.2017.0172. PMC 6050547. PMID 29144625.

Template:WH Template:WS

[pmid11396445-1] 1.0 ^1.1 Mannucci PM, Tuddenham EG (June 2001). "The hemophilias--from royal genes to gene therapy". N. Engl. J. Med. 344 (23): 1773–9. doi:10.1056/NEJM200106073442307. PMID 11396445.

[Ingram1976-2] Ingram, G I (1976). "The history of haemophilia". Journal of Clinical Pathology. 29 (6): 469–479. doi:10.1136/jcp.29.6.469. ISSN 0021-9746.

[pmid30129541-3] 3.0 ^3.1 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.

[BerntorpShapiro2012-4] 4.0 ^4.1 ^4.2 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.

[FranchiniMannucci2013-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 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.

[pmid30246038-6] 6.0 ^6.1 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.

[pmid28901996-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 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.

[pmid22385799-8] 8.0 ^8.1 ^8.2 ^8.3 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.

[pmid10445891-9] 9.0 ^9.1 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.

[pmid29125443-10] 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.

[pmid26733762-11] 11.0 ^11.1 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.

[pmid27073678-12] 12.0 ^12.1 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.

[pmid24914744-13] 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.

[14] Peterson, Lars (2001). Sports injuries : their prevention and treatment. London: Martin Dunitz. ISBN 0203419561.

[pmid27853081-15] 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.

[PitcherBowley2002-16] 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.

[pmid24501339-17] 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.

[pmid11122397-18] 18.0 ^18.1 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.

[pmid30473957-19] Mense L, Ferretti E, Ramphal R, Daboval T (September 2018). "A Newborn with Simmering Bleeding after Circumcision". Cureus. 10 (9): e3324. doi:10.7759/cureus.3324. PMC 6248866. PMID 30473957.

[pmid26268821-20] 20.0 ^20.1 Washino S, Hirai M, Kobayashi Y, Saito K, Miyagawa T (August 2015). "Heavy hematuria requiring cystectomy in a patient with hemophilia A: a case report and literature review". BMC Urol. 15: 84. doi:10.1186/s12894-015-0076-8. PMC 4535382. PMID 26268821.

[pmid30538871-21] Yamaguchi T, Kudo N, Endo S, Usui T, Imashuku S (2018). "Management of Acquired Hemophilia A in Elderly Patients". Case Rep Hematol. 2018: 6757345. doi:10.1155/2018/6757345. PMC 6260550. PMID 30538871.

[pmid29144625-22] Schmidt-Bowman M, Reinstatler L, Raffin EP, Yared JE, Seigne JD, Sverrisson EF (2018). "Acquired Hemophilia presenting as Gross Hematuria following Kidney Stone - A Case Report and Review of the Literature". Int Braz J Urol. 44 (2): 390–392. doi:10.1590/S1677-5538.IBJU.2017.0172. PMC 6050547. PMID 29144625.

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