Hemophilia natural history, complications and prognosis: Difference between revisions
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Common complications of hemophilia include deep internal bleeding, joint damage from haemarthrosis, transfusion transmitted infection from blood transfusions, intracranial haemorrhage and haemophilic arthropathy. Depending on the severity and adequate treatment, the prognosis may vary. | Common complications of hemophilia include deep internal bleeding, joint damage from haemarthrosis, transfusion transmitted infection from blood transfusions, intracranial haemorrhage and haemophilic arthropathy. Depending on the severity and adequate treatment, the prognosis may vary. | ||
==Natural History== | ==Natural History== | ||
Most patients present with bleeding during the neonatal period or with bleeding | Most patients present with bleeding during the neonatal period or with bleeding large haematoma following minor trauma as a toddler. In the worst cases, bleeding occurs for no reason. Internal bleeding may occur anywhere and bleeding into joints is common. The severity of symptoms vary. Bleeding is the main symptom of the disease. It is often first seen when an infant is circumcised. Other bleeding problems are seen when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere. Around 70% of patients have the severe form of the disease characterized by spontaneous haemorrhage or haemorrhage following minor trauma..<ref>{{Cite web | title = Wikipedia Hemophilia Symptoms | url =https://en.wikipedia.org/wiki/Haemophilia }}</ref> | ||
==Complications== | ==Complications== | ||
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**Transfusion transmitted infection from blood transfusions that are given as treatment. | **Transfusion transmitted infection from blood transfusions that are given as treatment. | ||
**Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective. | **Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective. | ||
**Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness,brain damage, and death. | **Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, [[nausea]], loss of consciousness, brain damage, and death. | ||
**Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily re bleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis. In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.<ref>{{Cite web | title =Wikipedia Hemophilia complications | url =https://en.wikipedia.org/wiki/Haemophilia }}</ref> | **Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily re bleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis. In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.<ref>{{Cite web | title =Wikipedia Hemophilia complications | url =https://en.wikipedia.org/wiki/Haemophilia }}</ref> | ||
==Prognosis== | ==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. | 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) | *15 times increased risk death from intracranial haemorrhage ( 1/3 of all deaths) | ||
*50 times increased risk death from non-intracranial haemorrhage.<ref>{{Cite web | title =Radiopedia Hemophilia Prognosis | url =http://radiopaedia.org/articles/haemophilia }}</ref> | *50 times increased risk death from non-intracranial haemorrhage.<ref>{{Cite web | title =Radiopedia Hemophilia Prognosis | url =http://radiopaedia.org/articles/haemophilia }}</ref> | ||
Like most aspects of the disorder, life expectancy varies with severity and adequate treatment. People with severe | 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 haemophilia has shifted from haemorrhage to [[HIV/AIDS]] acquired through treatment with contaminated blood products. The second leading cause of death related to severe haemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with haemophilia. Two other major causes of death include [[hepatitis]] infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.<ref>{{Cite web | title =Wikipedia Hemophilia Prognosis | url =https://en.wikipedia.org/wiki/Haemophilia }}</ref> | ||
==References== | ==References== | ||
Revision as of 14:34, 31 August 2015
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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
Common complications of hemophilia include deep internal bleeding, joint damage from haemarthrosis, transfusion transmitted infection from blood transfusions, intracranial haemorrhage and haemophilic arthropathy. Depending on the severity and adequate treatment, the prognosis may vary.
Natural History
Most patients present with bleeding during the neonatal period or with bleeding large haematoma following minor trauma as a toddler. In the worst cases, bleeding occurs for no reason. Internal bleeding may occur anywhere and bleeding into joints is common. The severity of symptoms vary. Bleeding is the main symptom of the disease. It is often first seen when an infant is circumcised. Other bleeding problems are seen when the infant starts crawling and walking. Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere. Around 70% of patients have the severe form of the disease characterized by spontaneous haemorrhage or haemorrhage following minor trauma..[1]
Complications
- Severe complications are much more common in severe and moderate haemophiliacs. Complications may be both directly from the disease or from its treatment:
- Deep internal bleeding, e.g. deep-muscle bleeding, leading to swelling, numbness or pain of a limb.
- Joint damage from haemarthrosis (haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis.
- Transfusion transmitted infection from blood transfusions that are given as treatment.
- Adverse reactions to clotting factor treatment, including the development of an immune inhibitor which renders factor replacement less effective.
- Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness, brain damage, and death.
- Haemophilic arthropathy is characterized by chronic proliferative synovitis and cartilage destruction. If an intra-articular bleed is not drained early, it may cause apoptosis of chondrocytes and affect the synthesis of proteoglycans. The hypertrophied and fragile synovial lining while attempting to eliminate excessive blood may be more likely to easily re bleed, leading to a vicious cycle of hemarthrosis-synovitis-hemarthrosis. In addition, iron deposition in the synovium may induce an inflammatory response activating the immune system and stimulating angiogenesis, resulting in cartilage and bone destruction.[2]
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.[3]
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 haemophilia has shifted from haemorrhage to HIV/AIDS acquired through treatment with contaminated blood products. The second leading cause of death related to severe haemophilia complications is intracranial haemorrhage which today accounts for one third of all deaths of people with haemophilia. Two other major causes of death include hepatitis infections causing cirrhosis and obstruction of air or blood flow due to soft tissue haemorrhage.[4]