Rare and unusual bleeding manifestations in congenital bleeding disorders: An annotated review

Clinical and Applied Thrombosis/Hemostasis

Volumn 18, Issue 2, 2012, Pages 121-127

  Girolami, Antonio ^a   Vettore, Silvia ^a   Ruzzon, Elisabetta ^a   Marinis, Giulia Berti De ^a   Fabris, Fabrizio ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

congenital bleeding disorders; rare forms of bleeding; unusual site of bleeding

Indexed keywords

ANTIPLASMIN; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; PLASMINOGEN ACTIVATOR INHIBITOR 1;

ALPHA 2 ANTIPLASMIN DEFICIENCY; BLEEDING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING FACTOR 13 DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; CLINICAL FEATURE; CONGENITAL BLEEDING DISORDER; FIBRINOGEN DEFECT; HEMATOMA; HEMOBILIA; HEMOPERITONEUM; HEMOPHILIA A; HUMAN; PLASMINOGEN ACTIVATOR INHIBITOR 1 DEFICIENCY; PRIORITY JOURNAL; REVIEW; SPLEEN INJURY; THROMBOCYTE DISORDER; VON WILLEBRAND DISEASE;

ALPHA-2-ANTIPLASMIN; BLOOD PLATELET DISORDERS; BONE DISEASES; COAGULATION PROTEIN DISORDERS; EPISTAXIS; FEMALE; HEMARTHROSIS; HEMATOMA; HEMORRHAGE; HEMORRHAGIC DISORDERS; HUMANS; MALE; MENORRHAGIA; ORGAN SPECIFICITY; PLASMINOGEN ACTIVATOR INHIBITOR 1; SPLENIC RUPTURE; TEARS;

EID: 84858412105     PISSN: 10760296     EISSN: 19382723     Source Type: Journal    
DOI: 10.1177/1076029611416638     Document Type: Review

References (62)

1. Girolami A, Luzzatto G, Varvarikis C, Pellati D, Sartori R, Girolami B.. Main clinical manifestations of a bleeding diathesis: an often disregarded aspect of medical and surgical history taking. Haemophilia. 2005 ; 11 (3). 193-202 (Pubitemid 40723793)
2. Bolton-Maggs PH, Perry DJ, Chalmers EA, et al. The rare coagulation disorders-review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation. Haemophilia. 2004 ; 10 (5). 593-628 (Pubitemid 39317772)
3. Mauser-Bunschotten EP, De Knecht-van Eekelen A, Smit L.. Rare bleeding in haemophilia. Utrecht Academic Press. 2002 ; 15 :
4. Peyvandi F, Mannucci PM.. Rare coagulation disorders. Thromb Haemost. 1999 ; 82 (4). 1207-1214 (Pubitemid 29473778)
5. Acharya SS, Coughlin A, Dimichele DM. Rare bleeding disorder registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost. 2004 ; 2 (2). 248-256 (Pubitemid 40186038)
6. Al-Mondhiry H, Ehmann WC.. Congenital afibrinogenemia. Am J Hematol. 1994 ; 46 (4). 343-347 (Pubitemid 24243881)
7. Tziomalos K, Vakalopoulou S, Perifanis V, Garipidou V.. Treatment of congenital fibrinogen deficiency: overview and recent findings. Vasc Health Risk Manag. 2009 ; 5: 843-848
8. Gallet S, Tran Minh V, Louis D, Cotton JB, Berthier JC, Hartemann E.. Massive hemoperitoneum caused by rupture of the spleen, a complication of congenital afibrinogenemia. Conservative treatment. Pediatrie. 1985 ; 40 (5). 385-391
9. Lee AC, Li CH.. Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. Pediatr Dermatol. 2002 ; 19 (6). 567-568 (Pubitemid 35425167)
10. Girolami A, Scarparo P, Candeo N, Sartori R, Scandellari R, Girolami B.. Hemospermia in patients with congenital coagulation disorders: a study of three cases. Acta Haematol. 2009 ; 121 (1). 42-46
11. Girolami A, Lombardi AM, Candeo N, Scarparo P, Paternoster A.. Control of ovulation induced hemoperitoneum by oral contraceptives in a patient with congenital hypoprothombinemia and in another with congenital factor V deficiency. Acta Haematol. 2008 ; 119 (4). 236-240
12. Girolami A, Scarpa R, Cadrobbi P.. Hemorrhagic varicella in parahemophilia. Blut. 1972 ; 25 (5). 293-301
13. Girolami A, Allemand E, Tezza F, Pellati D, Scandellari R.. Rectus muscle sheath haematoma in a patient with congenital FX deficiency and in another with congenital FVII deficiency. Haemophilia. 2009 ; 16 (1). 182-185
14. Slem G, Kumi M.. Bloody tears due to congenital factor VII deficiency. Ann Ophtalmol. 1979 ; 10 (5). 593-595
15. Hamilton M, French W, Rhymes N, Collins P.. Liver haemorrhage in haemophilia-a case report and review of the literature. Haemophilia. 2006 ; 12 (4). 441-443
16. Stieltjes N, Ourmoughene N, Sava E, et al. Interest in transjugular liver biopsy in adult patients with hemophilia or other congenital bleeding disorders infected with hepatitic C virus. Brit J Haematol. 2004 ; 125 (6). 769-776 (Pubitemid 38813604)
17. Kruse-Jarres R, Leissinger CA.. Haemobilia after transjugular liver biopsy in a patient with severe haemophilia. Haemophilia. 2005 ; 11 (6). 642-643 (Pubitemid 41631602)
18. Elte PM, van Aken WG, Agenant DM, Tijtgat GN.. Hemobilia after liver biopsy. Early detection in a patient with mild hemophilia A. Arch Intern Med. 1980 ; 140 (6). 839-840 (Pubitemid 10120844)
19. Shin JL, Teitel J, Swain MG, et al. A Canadian multicenter retrospective study evaluating transjugular liver biopsy in patients with congenital bleeding disorders and hepatitis C: is it safe and useful?. Am J Hematol. 2005 ; 78 (2). 85-93 (Pubitemid 40194098)
20. Yoshida J, Donahue PE, Nyhus LM.. Hemobilia. Rewiew of recent experience with a world wide problem. Am J Gastroent. 1987 ; 82 (5). 448-453 (Pubitemid 17092990)
21. Sreenivas DV, Bharavi C, Anjum F, Kumar YR N, Kumar A.. Spontaneous hemobilia in a hemophiliac treated by factor VIII replacement and nasobiliary drainage. Dig Dis Sci. 1998 ; 43 (12). 2606-2609 (Pubitemid 29034911)
22. Garrigues V, Del Val A, Ponce J, Berenguer J.. Hemobilia and hemophilia. An Int Med. 1988 ; 109 (4). 345
23. Thong-Ngam D, Shusang V, Wongkusoltham P, Brown L, Kullavanijaya P.. Hemobilia: four case reports and review of the literature. J Med Assoc Thai. 2001 ; 84 (3). 438-444 (Pubitemid 33710214)
24. Manolakis AC, Kapsoritakis AN, Tsikouras AD, Tsiopoulos FD, Psychos AK, Potamianos SP.. Hemobilia as the initial manifestation of cholangiocarcinoma in a hemophilia B patient. World J Gastroenterol. 2008 ; 14 (26). 4241-4244
25. Le Pommelet C, Durand P, Laurian Y, Devictor D.. Haemophilia A: two cases showing unusual features at birth. Haemophilia. 1998 ; 4 (2). 122-125 (Pubitemid 28165691)
26. Kuwahara M, Yurugi S, Takeda M, Fukuda K, Yoshioka A.. Hemophilia B diagnosed by hematoma at the columella base. Plast Reconstr Surg. 2006 ; 117 (5). 1647-1648 (Pubitemid 44324479)
27. Terry NE, Boswell WC.. Nonoperative management of delayed splenic rupture in a patient with hemophilia B. J Pediatr Surg. 2006 ; 41 (6). 1607-1609 (Pubitemid 44301222)
28. Kaulfersch W, Höllwarth M, Muntean W.. Biphasic splenic rupture in a hemophilic child. Padiatr Padol. 1981 ; 16 (4). 465-467 (Pubitemid 12243942)
29. Balkan C, Kavakli K, Karapinar D.. Spinal epidural haematoma in a patient with haemophilia B. Haemophilia. 2006 ; 12 (4). 437-440
30. Myers DJ, Moony H, Regni MV.. Fetal clival subdural hematoma in a haemophiliac. Am. Emerg. Med. 1995 ; 25 (2). 249-252
31. Iwamuro H, Morita A, Kawaguchi H, Kirino T.. Resolution of spinal epidural haematoma without surgery in a haemophilic infant. Acta Neurochir (Wien). 2004 ; 146 (11). 1263-1265 (Pubitemid 39517801)
32. Lifshitz T, Yermiahu T, Biedner B, Yassur Y.. Traumatic total hyphema in a patient with severe hemophilia. J Pediatr Ophthalmol Strabismus. 1986 ; 23 (2). 80-81 (Pubitemid 16132674)
33. Meena AK, Jayalakshmi S, Prasad VS, Murthy JM.. Spinal epidural haematoma in a patient with haemophilia-B. Spinal Cord. 1998 ; 36 (9). 658-660 (Pubitemid 28434598)
34. Guirgis MF, Segal WA, Lueder GT.. Subperiosteal orbital hemorrhage as initial manifestation of Christmas disease (factor IX deficiency). Am J Ophthalmol. 2002 ; 133 (4). 584-585 (Pubitemid 34258081)
35. Ghose S, Kishore K, Patil ND, Saxena R.. Spontaneous hyphema in an infant with Christmas disease. Can J Ophthalmol. 1993 ; 28: 40-42 (Pubitemid 23125518)
36. Janic D, Smoljanic Z, Krstovski N, Dokmanovic L, Rodic P.. Ruptured intramural intestinal hematoma in an adolescent patient with severe hemophilia A. Int J Hematol. 2009 ; 89 (2). 201-203
37. Jarry J, Biscay D, Lepront D, Rullier A, Midy D.. Spontaneous intramural haematoma of the sigmoid colon causing acute intestinal obstruction in a haemophiliac: report of a case. Haemophilia. 2008 ; 14 (2). 383-384 (Pubitemid 351338702)
38. Jewett TC, Caldarola V, Karp MP, Allen JE, Cooney DR.. Intramural hematoma of the duodenum. Arch Surg. 1988 ; 123 (1). 54-58 (Pubitemid 18059410)
39. Katsumi A, Matsushita T, Hirashima K, et al. Recurrent intramural hematoma of the small intestine in a severe hemophilia A patient with a high titer of factor VIII inhibitor: a case report and review of the literature. Int J Hematol. 2006 ; 84 (2). 166-169 (Pubitemid 44343981)
40. Nakayama Y, Fukushima M, Sakai M, et al. Intramural hematoma of the cecum as the lead point of intussusception in an elderly patient with hemophilia A: report of a case. Surg Today. 2006 ; 36 (6). 563-565 (Pubitemid 43781487)
41. Ramadan KM, Lowry JP, Wilkinson A, McNulty O, McMullin MF, Jones FG.. Acute intestinal obstruction due to intramural haemorrhage in small intestine in a patient with severe haemophilia A and inhibitor. Eur J Haematol. 2005 ; 75 (2). 164-166 (Pubitemid 41008288)
42. Santoro R, Iannaccaro P.. Spontaneous intramural intestinal haemorrhage in a haemophiliac patient. Br J Haematol. 2004 ; 125 (4). 419 (Pubitemid 38916186)
43. Adelman MI, Gishen P, Dubbins P, Mibashan RS.. Localised intramesenteric haemorrhage: a recognisable syndrome in haemophilia?. Br Med J. 1979 ; 2 (6191). 642-643 (Pubitemid 10244304)
44. Wilde JT, Lee CA, Collins P, Giangrande PL, Winter M, Shiach CR.. Increased bleeding associated with protease inhibitor therapy in HIV-positive patients with bleeding disorders. Br J Haematol. 1999 ; 107 (3). 556-559
45. Racoosin JA, Kessler CM.. Bleeding episodes in HIV-positive patients taking HIV protease inhibitors: a case series. Haemophilia. 1999 ; 5 (4). 266-269 (Pubitemid 29445752)
46. Girolami A, Vettore S, Scandellari R, Allemand E, Girolami B.. About the rarity of haemoptysis in congenital bleeding disorders. A report of five cases. Haemophilia. 2009 ; 15 (3). 825-827
47. Dafopoulus K, Galazios G, Georgadakis G, et al. Two episodes of hemoperitoneum from luteal cystis rupture in a patient with congenital FX deficiency. Gynecol Obstet Invest. 2003 ; 55 (2). 114-115 (Pubitemid 36667681)
48. Gupta N, Dadhwal V, Deka D, Jain SK, Mittal S.. Corpus lutean hemorrhage: rare complication of congenital and acquired coagulation abnormalities. J Obst Gynecol Res. 2007 ; 33 (3). 376-380 (Pubitemid 46934562)
49. Khalife H, Muwakkit K, Al-Moussawi H, et al. Spontaneous splenic rupture in a patient with factor XIII deficiency are a novel mutation. Ped Blood Cancer. 2008 ; 50 (1). 113-114 (Pubitemid 350234275)
50. Biri A, Kurdoglu M, Kurdoglu Z, Gultekin S, Gursel T.. Acute abdominal pain caused by a spontaneous intramyometral hematoma in type III von Willebrand Disease. Pad Emerg Care. 2006 ; 22: 650-652 (Pubitemid 44413102)
51. Gomez A, Lucia J, Perella M, Aguilar C.. Haemoperitoneum caused by hemorrhagic corpus luteum in a patient with Type 3 von Willebrand disease vWD. Hemophilia. 1998 ; 4 (1). 60-62 (Pubitemid 128501244)
52. Keafarani H, Taher A, Haddad MC, Haidar A, Mourad FH.. Spontaneous intracholegistic bleeding in a patient with von Willebrand disease. Gastrointest Endosc. 2003 ; 58 (5). 809-811 (Pubitemid 37370508)
53. Fukushima Y, Kuroki Y, Hzuka A.. Activity and antigen of coagulation factors VII and X in five patients with abnormal chromosome 13. Jpn J Human Genet. 1987 ; 32 (2). 91-96 (Pubitemid 17166802)
54. Menegatti M, Karini M, Garagiollo I.. Mannucci P, Peyvandi F. A rare inherited coagulation disorder: combined homozygous factor VII and Factor X deficiency. Am J Hematol. 2004 ; 77 (1). 90-91 (Pubitemid 39108806)
55. Girolami A, Scandellari R, Scapin M, Vettore S.. Congenital bleeding disorders of the vitamin K-dependent clotting factors. Vitamins Hormones. 2008 ; 78: 281-374
56. Morimoto Y, Yoshioka A, Imai Y, Takahashi Y, Minowa H, Kirita T.. Haemostatic management of intraoral bleeding in patients with congenital deficiency of alpha2-plasmin inhibitor or plasminogen activator inhibitor-1. Haemophilia. 2004 ; 10 (5). 669-674 (Pubitemid 39317778)
57. Devaussuzenet VM, Ducou-le-Pointe HA, Doco AM, Mary PM, Montagne JR, Favier R.. A case of intramedullary haematoma associated with congenital alpha2-plasmin inhibitor deficiency. Pediatr Radiol. 1998 ; 28 (12). 978-980 (Pubitemid 28554623)
58. Takahashi Y, Tanaka T, Nakajime N, et al. Intramedullary multiple hematomas in siblings with congenital α2-plasmin inhibitor deficiency: orthopaedic surgery with protection of tranexamic acid. Haemostasis. 1991 ; 21 (5). 321-327
59. Favier R, Aoki N, de Moerloose P.. Congenital alpha(2)-plasmin inhibitor deficiencies: a review. Br J Haematol. 2001 ; 114 (1). 4-10 (Pubitemid 32702626)
60. Mehta R, Shapiro AD.. Plasminogen activator inhibitor type 1 deficiency. Haemophilia. 2008 ; 14 (6). 1255-1260
61. Koyama T, Fujimoto K, Okamoto K, Iwakiri R, Inoue E, Shimamoto Y.. Hemobilia and Bernard-Soulier syndrome. Am J Gastroenterol. 1996 ; 91 (3). 619-620
62. Tanaka J, Fujimoto K, Iwakiri R, Matsuzaki M, Shimamoto Y.. Hemobilia in a case of Bernard-Soulier syndrome. Am J Gastroenterol. 1993 ; 88 (12). 2142-2143