On reassessment, the left elbow joint haemarthrosis improved after the first dose of Factor VIII. Candidates for genetic testing also include patients who have a diagnosis of hemophilia, at-risk women who are related to an affected man who has a known mutation, and female carriers of hemophilia A or B seeking prenatal diagnosis. MM is a five years old boy who was diagnosed with Haemophilia A since six months of age. The study, “Safety and effectiveness of Rixubis in patients with hemophilia B: a real-world, prospective, postmarketing surveillance study in South Korea,” was published in the journal Blood Research. Therefore, patients with vitamin K deficient conditions may also have a prolonged PT. He had Factor VIII transfusion of 250 IU once daily for five days, which was the target serum factor VIII was aimed at 30%. Case Studies. On systemic review, there was no fever, no haematuria, no bleeding noticed, bowel movement was normal. MM’s father had to miss work occasionally or he sometimes is late to school due to MM’s condition which requires frequent visits to the hospital. There were no bruises seen on both lower limbs. Acquired hemophilia A (AHA) is a rare bleeding disorder with an incidence of approximately 1.5 cases/million/year1 and is characterized by autoantibodies directed against circulating coagulation FVIII. Signs and symptoms vary depending on the severity of the hemophilia. He presented to the daycare of the Paediatric department with left elbow swelling for one day after … There was no other swelling or bruises noticed by the father. A coagulation screen typically consists of a Prothrombin Time (PT), activated Partial Thromboplastin Time (aPTT), Thrombin Clotting Time (TT), fibrinogen level, a platelet count, and a full blood count.1 The PT measures the factors of the extrinsic and common pathways. “Validation of a New Pediatric Joint Scoring System from the International Hemophilia Prophylaxis Study Group: Validity of the Hemophilia Joint Health Score.” Arthritis Care & Research2 (2011): 223-30. He was unable to fully extend his arm. Reviewer: Michelle Butina, PhD, MLS (ASCP) CM This course will expose the reader to six case studies in pediatric hematology. There are no surgical scars. 4.4/5 on reviews.co.uk. Juvenile Idiopathic Arthritis presents with symmetrical arthralgia or may only affect one joint in the oligoarthritis type of juvenile rheumatoid arthritis. There have been episodes where there was delay in seeking medical consultation sometimes because MM’s parents had been busy, or MM’s father was outstation. It was non-tender. They also do not have beds for they all sleep on mattresses only. Deficiencies of these factors, including factor VIII and factor IX will have a prolonged aPTT.1 Therefore, in the case of my patient, MM, he has a normal PT and a prolonged aPTT. He … It would be the definitive treatment because the use of analgesics such as aspirin and NSAIDS are not recommended for him as it can cause bleeding in patients with haemophilia. Evidence against: Juvenile idiopathic arthritis usually presents during childhood. There was no jaundice or pallor. Upcoming Events; Affiliate Events; Past Events. Children with hemophilia (A or B) are at risk for bleeding episodes, which rank from mild mucosal/soft tissues bleeding to life-threatening hemorrhages. In a significant number of cases, the disorder results from a new mutation or an acquired MM presented with left elbow swelling for one day after hitting it against the wall while playing with his brother in the afternoon prior to admission. There was restricted joint movement. It would be ideal for MM to be screened as recommended by the Malaysian protocol for the management of haemophilia. To export a reference to this article please select a referencing stye below: If you are the original writer of this essay and no longer wish to have your work published on the UKDiss.com website then please: Our academic writing and marking services can help you! All Answers Ltd, a company registered in England and Wales. Studies had showed it is effective and beneficial in preventing bleeding and joint arthropathy. The left knee was slightly swollen. We would like to refer him for physiotherapy for joint rehabilitation. He has been given Factor VIII transfusion for one week and the swelling and pain had resolved. It was not distended. MM had developed previous haemarthroses of the joints after minimal trauma in the past which was similar to this episode. Giving factor VIII or IX can allow a child with hemophilia … The left elbow had decreased in range of motion as the day progressed. CASE A 24-year-old Middle Eastern man diagnosed with hemophilia at the age of 4 or 5 years presented to the hematology clinic for follow-up after a recent hospitalization for excessive bleeding from an accidental knife cut. Kindly review the patient and assess if he needs factor VIII transfusion prior to physiotherapy session. We've received widespread press coverage MM’s father is a teacher and his mother is a housewife. This essay should not be treated as an authoritative source of information when forming medical opinions as information may be inaccurate or out-of-date. Patient was known case of hemophillia (factor VIII deficiency). new_window = window.open('/cases/case325/q01.htm', '', 'width=400,height=250, resizable=1,scrollbars=yes'); Thank you. Deficiencies of these factors especially Factor VII will prolong the PT. His mother related that he tended to bleed for prolonged periods from his immunization sites, but there was no history of bruising or hematomas. It also found that secondary outcomes such as time loss to school and employment due to the illness was statistically significantly reduced among those receiving primary prophylaxis compared to a placebo. Recent studies have addressed the importance of preventive, or prophylatic, treatment in severe cases of hemophilia, and its long-term benefits for children. Interpretation: MM has moderate haemophilia A due to his Factor VIII level is in between 1-5%. Investigations done at 6 months of age by the national blood bank: Justification: MM presented with easy bruising at his limbs which indicates that may be due to a bleeding disorder. He eats balanced meals which are usually prepared by his mother. We hope that his family could also be taught rehabilitation exercises that can be done at home to prevent joint contractures in view of his recurrent bleeding into the joints. If she has an affected son, he should be counseled that all his future daughters will be carriers. If she does have a daughter who is a carrier, her daughter is recommended to have screening before marriage. There were no contractures seen. What is the laboratory approach to diagnose haemophilia? 2. On examination of the right elbow, there was a joint deformity with valgus deformity noted on his right elbow however range of motion of the right elbow was normal. The case A 7-month-old male with severe hemophilia A (less than 1% factor VIII [FVIII] activity) presented to his pediatrician with fussiness and inability to sleep for 3 days. In the case study, the patient being a boy has a high risk of hemophilia, as evidenced by the symptoms of the condition, such as swollen right knee and excessive bruising. He is prone to injury on minimal trauma. Factor VIII should ideally be given every 8-12 hours and the duration for haemarthroses is usually 2-3 days. The appropriate management to relieve the pain and swelling is Factor VIII infusion. Washington, and Wyoming. Hemophilia (a) - Pediatrics 1. 5 Diagnostic criteria for hemophilia … On palpation, the joint was warm and tender to touch. Hemophilia A occurs 1 in 5000 to 10,000 males birth (~60 % have severe disease). Registered office: Venture House, Cross Street, This is not a clinical feature of juvenile idiopathic arthritis. Ballas M, Kraut EH.Bleeding and bruising: A Diagnostic Work-up. Master Spring Flower aged 14. Hemophilia is the most common serious congenital coagulation factor deficiencies. There is primary prophylaxis, secondary prophylaxis and individualized tailored prophylaxis. Flexion was 0°-140° however on extension movement there was a 90° fixed flexion. Pediatr Clin N Am 55 (2008) 357-376. He does not usually seek medical treatment for bruises because they are a common occurrence and these bruises resolve spontaneously. However the authors concluded that there was insufficient evidence from randomized control trials to recommend the use of primary prophylactic factor infusion in the management of patients with haemophilia. The trachea was not deviated. He never had haemetemesis, maleana or haematuria before. A 2-year old boy was brought to the emergency department by his mother for oozing blood from his mouth following a fall nearly 6 hours ago. If the daycare is closed, they will bring MM straight to the paediatric ward if he develops any haemarthroses. The range of movement of the left elbow joint was also improved. Prenatal Management of 21-Year-Old Woman to Each time he had his vaccination, he only develop a mild haematoma which resolves spontaneously. There was loss of bony prominences. He does not have any known drug allergies. He looked well nourished. Hemophilia should be considered in the neonatal period in the case of unusual bleeding or in the case of positive family history. Later, hemophilia should be suspected mainly in males because … He presented to the daycare of the Paediatric department with left elbow swelling for one day after hitting it against the wall while playing. He usually develops a mild haematoma with the intramuscular injections during immunization. There was no pallor or jaundice. These case studies … The review also quoted one study which showed that a twice weekly infusion of higher dose of factor concentrate had a statistically significant advantage in reducing the number of bleeds a year when compared to a lower dose and less frequent administration of transfusion. He did not develop any contractures or joint deformity. There is no family history of haemophilia on both his maternal and paternal side. Company Registration No: 4964706. Hemophilia pediatric case study Can i put a rhetorical question in an essay about pongal festival in tamil essay reasons to attend a college essay, importance of introduction in essay writing, parfit personal identity essay critical essay on the historical ivanhoe the novel, dissertation topics in criminology. As such a coagulation profile would be useful to see if the coagulation pathways are affected. He lives in a single storey house with no stairs to prevent MM from falling off the stairs. He was sitting comfortably with a sling bandage of his left elbow. On admission, the range of motion for extension was at fixed flexion 90°. Copyright © 2003 - 2021 - NursingAnswers.net is a trading name of Definition Hemophilia- “love of bleeding” 2 types: A and B Hemophilia A: X linked recessive hereditary disorder that is due to defective or deficient factor VIII Hemophilia … 13/10/2009 – 14/10/2009: On reassessment of the range of movement had improved, however the range of movement was still restricted. There was no bruising or bleeding at the site of injury. 15/10/2009: After 7 days of infusion of factor VIII, the swelling completely resolved and the range of motion of the left elbow joint was full. The family’s mutant gene can be identified by either gene sequencing or restriction fragment length polymorphisms (RFLPs). Apex beat was palpable in the fifth intercostals space in the mid-clavicular line, there was no parasternal heave or thrills palpable. Each admission, he requires Factor VIII transfusion. In this case … With this past history, MM is at risk of bleeding at minimal trauma. 8) To advised and encourage the parents that MM will benefit if he starts cycling with a tricycle for safety and wears a hard helmet such as motorcycle face helmet. Hemoph… His parents are aware that he requires Factor VIII cover if MM undergoes tooth extraction or any surgeries. Free resources to assist you with your nursing studies! Case Studies in Children With Hemophilia A: Leveraging PK for Use With SHL FVIII Replacement Therapy Authors: Stacy E. Croteau, MD; Michael Recht, MD, PhD Faculty and Disclosures CME / ABIM MOC Released: 11/17/2020 The results … // done hiding ---> 2. Interpretation: Prolonged APTT indicates that the intrinsic pathway is affected and that one of the factors in the intrinsic pathway may be deficient. Question 2 of 2: Briefly describe the pathophysiology of Hemophilia He did not develop intracranial bleed. MM is on an adult diet now. He has not developed any contractures. These parents would be able to encourage one another and share tips on caring for haemophilliac children. 2) MM’s father was told to bring him back to the daycare if there were episodes of bleeding into the joints or any joint swelling or any spontaneous bleeding. He has had recurrent episodes of bleeding into the joints and it usually affect the knee and elbow joints. 3) MM was encouraged to go for physiotherapy. Do you have a 2:1 degree or higher in nursing or healthcare? He was diagnosed with haemarthrosis of the left elbow joint. MM also bruised easily and on average once every two weeks. There were no hepatosplenomegaly. His last immunization was at 18 months. Hemophilia is an inherited bleeding disorder. If you continue browsing the site, you agree to the use of cookies on this website. Does every family members of patients diagnosed with haemophilia needs to undergo genetic testing? MM receives Factor VIII transfusion about twice a year on average. He was not in severe pain. Our nursing and healthcare experts are ready and waiting to assist with any writing project you may have, from simple essay plans, through to full nursing dissertations. The mission of CDC’s Division of Blood Disorders is to reduce the morbidity and … He did not require Factor VIII cover for his immunizations. However if the bruising is large in size, then the parents will bring him to the daycare. This course will expose the reader to six case studies in pediatric hematology. His father would bring him back to the hospital again the next day for the next dose till the pain and swelling in the joint resolves. 7) To educate the parents on care for their child and protective measures to prevent injury. In a Cochrane review by Stobart et al 3, included four studies where the results showed that there was a statistically significant difference in the reduction of joint bleeds in patients who were given standard prophylaxis when compared to a placebo. Working diagnosis: Haemarthroses of the left elbow joint due to Haemophilia A, 1) Factor VIII transfusion with a target serum factor level of 40% twice daily till the swelling and pain resolves, 4) To rest the elbow joint by restricting movement until swelling and pain reduces. ADDITIONAL WORKUP:
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