Haemophilic Arthropathy: Case Report
Liew Chiu Yee
Abstract
Haemophilia arthropathy is a common complication seen in moderate and severe haemophilic patient due to recurrent haemarthrosis. It is often begins in first or second decade of life and bleeding tend to recur in the same joint with gradual progression to joint destruction. Prophylactic replacement of deficient clotting factors may prevent or delay joint destruction but in many countries factor replacement is on demand basis due to financial constraint. This is a case report illustrates a patient with moderate Haemophilia B with haemophilic arthropathy.
Introduction
Haemo
Case Report
A 33-year-old Chinses gentleman was diagnosed with moderate Haemophilia B at the age of 4. He was
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However there are 30% of cases are resulted from spontaneous mutation without any family history. Factor VIII deficiency (Haemophilia A) is the commonest type while incidence of Factor IX deficiency (Haemophilia B/ Christmas disease) is one fifth of it. Haemophilia is classified into 3 categories depending on the percentage of coagulation factor activity: severe (< 1%), moderate (2-5%) and mild (5-30%). Moderate and severe haemophilia has significant clinical manifestation as the patients have spontaneous bleeding especially into joint and …show more content…
Intra-articular bleeding leads to hypertrophic synovium as the normal synovium is unable to reabsorbed excessive blood within the joint. The hypertrophic synovium is hyperaemic and richly vascularized resulting in asymmetrical growth of the epiphyses lead to angular deformities and limb length discrepancies. If chronic haemophilic synovitis left untreated it will result in cartilage damage and lead to haemophilic arthropathy, a particular form degenerative osteoarthritis. The common joint deformity seen in haemophilia patients are equinus deformity of the foot, flexion contractures of the knees and elbows. Intramuscular haematoma complicated with nerve palsy and fibrosis also contribute to fixed articular contracture.
Patient with severe and moderate haemophilia can be managed with prophylactic factor replacement or on-demand therapy whenever bleeding occurred. A large retrospective randomized study over four decades showed that primary prophylaxis initiated at early age before onset of recurrent bleeding episodes reduces incidence of haemophilic arthropathy and lead to normal life (2).
Conclusion
Haemophilia can cause progressive joint destruction and loss of function due to recurrent haemarthrosis. Early prophylactic factor replacement in moderate and severe haemophilia patient can prevent or delay the joint destruction however cost of the treatment is an issue need to be considered as this
Hemophilia A is an X-linked disorder caused by a deficient or defective clotting factor VIII (FVIII) protein, and characterized by spontaneous or traumatic bleeding into joints and muscles [Ragni]. It causes afflicted individuals to not be able to coagulate their blood very efficiently or at all when getting an injury in which blood is exposed either internally or externally. This disease can be very dangerous and fatal because major blood loss can occur if the patient has not received treatment.
The bounty hunters fought their way into the accountant's shelter and found nothing. They were beaten by Fett. Bossk and Zuckuss are forced to pursue Fett and warn him that this is not his bounty and that they had been given it by the Bounty Hunters Guild. Fett retorts saying that he doesn't answer to anybody, and then shoots off into hyperspace. Fett taunts and threatens the accountant until he offers to double the bounty if he would just let him go.
According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family
If this disease causes such problems, one may wonder what causes it? Many fanatics of life science have established that hemophilia is the consequence of a mutation or change in one of the genes. This gene is the gene that provides instructions for making the clotting factor
Hemophilia is an X-linked recessive disease in which blood lacks blood-clotting proteins. Females have two X chromosomes, indicating that they are generally carriers and transmit the gene to their sons. People with mild hemophilia bleed after surgery, injury, or trauma. Severe hemophilia produces spontaneous internal bleeding in joints and muscles. Fortunately, medicines and lifestyle changes offers hemophiliacs fairly normal lives. Through learning about hemophilia, I became interested in genetic diseases and finding a cure for those
The genetic disorder of Hemophilia is where the clotting factors of the blood are absent or deficient, causing it to be a dangerous disorder to the people who have it. This disorder is where the people who have it will bleed easily and accessibly. Different types of hemophilia are classified by different deficient clotting factors in the blood. Treatments for hemophilia are available, including transfusions of frozen
Hemophilia is a rare genetic blood clotting disorder that primarily affects males. People living with hemophilia do not have enough of, or are missing, one of the blood clotting proteins naturally found in blood. Two of the most common forms of hemophilia are A and B. In persons with hemophilia A (also called classic hemophilia), clotting factor VIII is not present in sufficient amounts or is absent. In persons with hemophilia B (also called Christmas disease), clotting factor IX is not present in sufficient amounts or is absent. People with hemophilia do not bleed more profusely or bleed faster than normal; they bleed for a longer period of time.
Hemophilia is an inherited genetic bleeding disorder that occurs due to deficiency of plasma coagulation factors causing lifelong recurrent bleeding episodes into joints, muscles, and closed spaces either spontaneously or following an injury.
Haemophilia is a clotting disorder, which is hereditary and results in bleeding in the skin, mucous membranes (gums, etc.) and additionally the joints. It is the repeated bleeding in the joints that causes the breakdown of cartilage and thus the onset of osteoarthritis.
Hemarthroses are responsible for roughly 75 percent of bleeding episodes in patients with severe hemophilia A degree (Roberts et al, 2010). Signs of hemarthroses include damage to capillaries located under synovial layer caused by mechanical trauma related to joints involvement in the regular daily
Research over the past 50 years has demonstrated that using prophylactic treatment regimens in children with haemophilia can prevent repeated bleeding into the joints; subsequently reducing hospitalization, chronic pain, and disability—ultimately resulting in improved quality of life (QoL) [1-4]. Prophylaxis in children with severe haemophilia is a grade 1A recommendation based on strong evidence from both randomized controlled trials (RCTs) and observational research [5]. While primary prophylaxis is undoubtedly the gold standard for preserving joint function in children with severe haemophilia, there is an ongoing debate about prophylaxis in adolescent and adult persons with haemophilia (PWH) [6-8]. The benefits of
Hemophilia is the oldest known hereditary bleeding disorder. There are two types of hemophilia, A and B (Christmas Disease). Low levels or complete absence of a blood protein essential for clotting causes both. Patients with hemophilia A lack the blood clotting protein, factor VIII, and those with hemophilia B lack factor IX. A person with severe hemophilia has less than 1% of the normal amount of a clotting factor - either Factor VIII (8) or Factor IX (9). People without hemophilia have between 50-150% of the normal level of factor VIII or IX. There are about 20,000 hemophilia patients in the United States. Each year, about 400 babies are born with this disorder. Approximately 85% have hemophilia A and the remainder has hemophilia B.
Hemophilia is a genetic disorder that slows the process of blood clotting. The majority of sufferers bleed extensively after injury or medical operation. In serious cases, there is spontaneous bleeding in the joints. “Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.” (Genetics Home Reference) Males are more prone to Hemophilia. Two main types are Hemophilia A and Hemophilia B. Someone with Hemophilia A lacks clotting factor 8. Whilst people with Hemophilia B lack clotting factor 9. If one blood clotting factor is eliminated, the process of clotting falls apart. It can be compared with a chain reaction.
Occasionally a baby is born with this disorder and no family history of it. When this happens, it could be caused by a hidden gene, which is when several generations of female carry it, and it has not affected any male members of the family or a spontaneous mutation. With each pregnancy, a woman who is a carrier has a 25% possibility of having a son born with hemophilia. Since the father's X chromosome is what determines if the unborn child will be a girl, all of the daughters born of a man with hemophilia will be carriers. None of his sons, which is determined by the father through his Y chromosome, will have hemophilia. Individuals who suffer from mild hemophilia may choose to use a non-blood product known as Desmopressin acetate (DDAVP) to help treat the small bleeds and/or scrapes. For deep cuts or internal bleeding, the treatment called DDAVP may not be enough and therefore, may need a much more complex treatment. The clotting factor must be replenished so the affected person can form a clot to stop the bleeding. Plasma is one of the ‘human blood products’ than is used for factor replacement. Another factor replacement option is using the recombinant factor, which is produced in a laboratory.
Hemophilia A, an X-linked genetic disease, is the most common coagulation disorder with an incidence of about 1-2 in 10,000 males and is caused by mutations in the factor VIII (FVIII) coagulation gene [PubMed1]. It causes infected individuals to not be able to coagulate their blood efficiently or at all when getting a cut or some injury in which blood is exposed. This disease can be very deadly because of major blood loss.