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
- Severe complications are much more common in severe and moderate hemophiliacs. 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 (hemophilic 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.
- Hemophilic 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.
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 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.
- ↑ Berntorp E, Shapiro AD (April 2012). "Modern haemophilia care". Lancet. 379 (9824): 1447–56. doi:10.1016/S0140-6736(11)61139-2. PMID 22456059.