Hemophilia natural history, complications and prognosis
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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
Hemophilia can present with a bleeding episode during the neonatal period that is difficult to manage or it can present with signs and symptoms of concealed bleeding into the joint or viscera. If left untreated, hemophilia can result in complications involving multiple organs and in severe bleeding episodes it can result in death. Hemophilia patients can lead an active and healthy life and life expectancy depends on the treatment response and the presence of any comorbidities. Complications of hemophilia include AIDS, hepatitis, Vitamin D deficiency, osteoporosis, and renal pathologies.
Natural History
- The initial presentation of hemophilia can be subtle and the finding of abnormal coagulation values can be incidental.[1]
- Hemophilia can present as early as the very first day of life with uncontrollable bleeding after a minor/major injury such as cirumcision.[1][2]
- It can also manifest as hemarthroses or muscle hematomas which has the potential of being misdiagnosed.[2][3]
- Recurrent bleeding into the joints can lead to severe progressive arthropathy.[4]
- If left untreated, hemophilia patients can experience life-threatening bleeding episodes such as retroperitoneal or intracranial bleeds.[2][5]
Complications
Common complications of hemophilia include:
- AIDS[6][7]
- Hepatitis[8][6][9][10][8][11]
- Transfusion related infections[11]
- Extracranial and intracranial hemorrhage[12][13][2][5]
- Splenic rupture[12]
- Hemarthrosis[2]
- Muscle hematomas[2]
- Arthropathy[14]
- Vitamin D deficiency[15][16]
- Menorrhagia[17]
- Epistaxis[17]
Prognosis
Prognosis depends on severity and on the presence or absence of transfusion related disease. HIV is a leading cause of death. Life expectancy in those without HIV is ~ 62 years.
- 15 times increased risk death from intracranial haemorrhage ( 1/3 of all deaths)
- 50 times increased risk death from non-intracranial haemorrhage.
- Like most aspects of the disorder, life expectancy varies with severity and adequate treatment. People with severe hemophilia who don't receive adequate, modern treatment have greatly shortened life spans and often do not reach maturity. Prior to the 1960s when effective treatment became available, average life expectancy was only 11 years. By the 1980s the lifespan of the average hemophiliac receiving appropriate treatment was 50–60 years. Today with appropriate treatment, males with hemophilia typically have a near normal quality of life with an average lifespan approximately 10 years shorter than an unaffected male. Since the 1980s the primary leading cause of death of people with severe hemophilia has shifted from haemorrhage to HIV/AIDS acquired through treatment with contaminated blood products. The second leading cause of death related to severe hemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with hemophilia. Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.
References
- ↑ 1.0 1.1 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.
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 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.
- ↑ Bolton-Maggs, Paula HB; Pasi, K John (2003). "Haemophilias A and B". The Lancet. 361 (9371): 1801–1809. doi:10.1016/S0140-6736(03)13405-8. ISSN 0140-6736.
- ↑ Roosendaal G, Lafeber FP (July 2006). "Pathogenesis of haemophilic arthropathy". Haemophilia. 12 Suppl 3: 117–21. doi:10.1111/j.1365-2516.2006.01268.x. PMID 16684006.
- ↑ 5.0 5.1 Berntorp E, Shapiro AD (April 2012). "Modern haemophilia care". Lancet. 379 (9824): 1447–56. doi:10.1016/S0140-6736(11)61139-2. PMID 22456059.
- ↑ 6.0 6.1 Kasper CK (March 2004). "AIDS, hepatitis and hemophilia". J. Thromb. Haemost. 2 (3): 516–8. PMID 15009473.
- ↑ Magallón Martínez M, Ortega F, Pinilla J (1992). "AIDS and hemophilia: experience in the La Paz Hemophilia Center". Haemostasis. 22 (5): 281–92. doi:10.1159/000216336. PMID 1362177.
- ↑ 8.0 8.1 Makris M, Konkle BA (March 2017). "Hepatitis C in haemophilia: time for treatment for all". Haemophilia. 23 (2): 180–181. doi:10.1111/hae.13183. PMID 28300362.
- ↑ Goodman, Catherine (2015). Pathology : implications for the physical therapist. St. Louis, Missouri: Elsevier Saunders. ISBN 9781455745913.
- ↑ Murphy N, O'Mahony B, Flanagan P, Noone D, White B, Bergin C, Norris S, Thornton L (September 2017). "Progression of hepatitis C in the haemophiliac population in Ireland, after 30 years of infection in the pre-DAA treatment era". Haemophilia. 23 (5): 712–720. doi:10.1111/hae.13244. PMID 28752601.
- ↑ 11.0 11.1 Goedert JJ, Eyster ME, Lederman MM, Mandalaki T, De Moerloose P, White GC, Angiolillo AL, Luban NL, Sherman KE, Manco-Johnson M, Preiss L, Leissinger C, Kessler CM, Cohen AR, DiMichele D, Hilgartner MW, Aledort LM, Kroner BL, Rosenberg PS, Hatzakis A (September 2002). "End-stage liver disease in persons with hemophilia and transfusion-associated infections". Blood. 100 (5): 1584–9. PMID 12176875.
- ↑ 12.0 12.1 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.
- ↑ Loomans JI, Eckhardt CL, Reitter-Pfoertner SE, Holmström M, van Gorkom BL, Leebeek F, Santoro C, Haya S, Meijer K, Nijziel MR, van der Bom JG, Fijnvandraat K (June 2017). "Mortality caused by intracranial bleeding in non-severe hemophilia A patients". J. Thromb. Haemost. 15 (6): 1115–1122. doi:10.1111/jth.13693. PMID 28374963. Vancouver style error: initials (help)
- ↑ Pulles AE, Mastbergen SC, Schutgens RE, Lafeber FP, van Vulpen LF (January 2017). "Pathophysiology of hemophilic arthropathy and potential targets for therapy". Pharmacol. Res. 115: 192–199. doi:10.1016/j.phrs.2016.11.032. PMID 27890816.
- ↑ Eldash HH, Atwa ZT, Saad MA (January 2017). "Vitamin D deficiency and osteoporosis in hemophilic children: an intermingled comorbidity". Blood Coagul. Fibrinolysis. 28 (1): 14–18. doi:10.1097/MBC.0000000000000519. PMID 26825623.
- ↑ Albayrak C, Albayrak D (April 2015). "Vitamin D levels in children with severe hemophilia A: an underappreciated deficiency". Blood Coagul. Fibrinolysis. 26 (3): 285–9. doi:10.1097/MBC.0000000000000237. PMID 25485786.
- ↑ 17.0 17.1 Kadir RA, Economides DL, Lee CA (January 1999). "Factor XI deficiency in women". Am. J. Hematol. 60 (1): 48–54. PMID 9883805.