• Hemophilia can be acquired, very rare.Hemophilia can be acquired, very rare. On palpation, the joint was warm and tender to touch. Pediatr Clin N Am 55 (2008) 357-376. MM is on an adult diet now. The latter assay is considered by some to be more accurate, but it is less widely available in clinical laboratories in the United States.The "normal" range of factor VIII in our clinical coagulation laboratory is from 54% to 161%, but the median value is about 100% ± 5%. Ballas M, Kraut EH.Bleeding and bruising: A Diagnostic Work-up. However, it is recommended for family members of the affected patients who were tested positive for Haemophilia. There were no contractures seen. No plagiarism, guaranteed! He was not in severe pain. There were no adventitious sounds. 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. A Pediatric supersite of Case Studies! Arnold, Nottingham, Nottinghamshire, NG5 7PJ. The range of motion for extension of the left elbow joint was at fixed flexion 30°. In the case of haemophilia patients, they have repeated haemarthroses which may cause joint damage are more likely to be susceptible to infection. MM is the second child of four siblings. Hemophiliaresults from mutations at the factor VIII or IX loci on the X chromosome and each occurs in mild, moderate, and severe forms. Hemophilia Case Study The mother of six-month-old Steven cannot stop his bleeding after he hits his mouth on the kitchen floor. On systemic review, there was no fever, no haematuria, no mucosal bleeding such as gum bleeding or epistaxis noticed, bowel movement was normal. Virtual Pediatric Hospital University of Utah University of Hawaii – a boat load of case studies! Studies had showed it is effective and beneficial in preventing bleeding and joint arthropathy. He should also be referred for physiotherapy when the pain has subsided. Hemophilia Α with Inhibitors: Results from the HAVEN 2 Study The Atlanta Protocol: Immune Tolerance Induction in Pediatric Patients with Hemophilia a and Inhibitors on Emicizumab Case … Flexion was 0°-140° however on extension movement there was a 90° fixed flexion. Hemophilia is now on the rise among the pediatric population across the world. Termination of pregnancy however, may occur if the fetus endangers the physical or mental health of the mother. Hemoph… As the factor VIII is derived from human plasma, MM is at risk of contracting Hepatitis B, Hepatitis C or HIV infections. NCT03020160. Factor VIII and IX deficiency (Hemophilia A, B), Lupus anticoagulant (possible), factor VIII inhibitor (rare at this age). In such cases it will be necessary to perform a direct measurement of specific factor levels to make the diagnosis. The most common symptom of hemophilia is increased, uncontrollable bleeding. His mother related that he tended to bleed for prolonged periods from his immunization sites, but there was no history of bruising or hematomas. (A case of knee damage,discontinuance of studies,financial distress) Case 3. Clotting factors are needed for … Both ankle joints were normal. Mixing studies take advantage of the fact that factor levels that are 50 percent of normal should give a normal Prothrombin time (PT) or Partial thromboplastin time (PTT) result. Find out what happens to this infant who has a disease that is … surrounding transition from pediatric to adult care. This series highlights different cases, disease state information, the importance of early There was no jaundice or pallor. 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. Hemophilia A is more common, occurring in 1/5000 male births while hemophilia B occurs in 1/15,000 (6). Soliman DE, Broadman LM. The school’s headmistress understands MM’s father’s situation and arranged for substitute teacher when he needs to come in late to school. Mr. Iron Will aged 23. He never had any blood transfusion before. Am Fam Physician. There were no perinatal or post natal complications. 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. *You can also browse our support articles here >. There was no history of bleeding disorders in the family. His parents have a car and lives about thirty minutes away from the hospital. He presented to the daycare of the Paediatric department with left elbow swelling for one day after … There was no bruising or bleeding at the site of injury. There is primary prophylaxis, secondary prophylaxis and individualized tailored prophylaxis. The most dangerous risk is that he develops intracranial haemorrhage if he had a fall and has a head trauma. Results: Prothrombin time (PT): 9.9 sec (normal) [Normal range: 9.8 – 13.5 seconds], APTT: 72.5 sec (prolonged) [Normal range: 23-33 seconds]. WHAT IS THE MOST LIKELY CAUSE OF PROLONGED BLEEDING IN THIS CASE? MM’s parents may find support groups such as the haemophillia society useful. There was no pallor or jaundice. Therefore, MM will receive Factor VIII transfusion at the daycare and returns home. His parents will need to supervise his activity. GENERAL: Alert, in no apparent distress, development appropriate for age, HEENT: Two small lacerations on the inside of lower lip, oozing blood, Remainder of exam within normal limits (notably, no petechia, bruises, joint swelling). It is a chronic disease where the joint pains persist for 6 weeks or more. (A case of severe hemophilia,psychological stress on collapse of marriage) Case … 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. These parents would be able to encourage one another and share tips on caring for haemophilliac children. He did not require Factor VIII cover for his immunizations. The headmistress of the school understands his father’s difficulty and tries to arrange for substitute teacher when he misses work or had to come in late when he needs to take MM to the hospital. WHAT IS THE MOST LIKELY CAUSE OF PROLONGED BLEEDING IN THIS CASE? He was still active despite the pain in his left elbow. He does not have any known drug allergies. – Referral to the physiotherapist for joint rehabilitation. MM is currently not attending pre-school. Registered office: Venture House, Cross Street, 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. There were no masses palpable. In this case … Hemophilia C (deficiency of factor XI) was described first in 2 sisters and a maternal uncle of an American Jewish family. Prophylactic therapy is usually recommended in those with severe haemophilia. Case studies are board-style questions with explanations and links to related articles featured in TraineE-News, an e-newsletter that is sent to hematology trainees on a quarterly basis. On the other hand, aPTT measures the factors of the intrin­sic and common pathways. He was unable to fully extend his arm. He never had much bleeding when he was shedding his decidua teeth and does not require Factor VIII. 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. var new_window = null; Published: 13th Feb 2020. Hemophilia is an inherited bleeding disorder. The whole abdomen moves with respiration and normal in shape. If prenatal diagnosis establishes the fetus to have carried the haemophilia gene, or an affected fetus, she has to be counseled that in Malaysia it is illegal to have abortion. 1. Inhibitor assays are then performed to identify which inhibitor is present and factor assays are per­formed to identify which factor is deficient.2, 1. There were no antenatal abnormalities detected during routine antenatal checkups. MM’s father is a teacher and his mother is a housewife. Rodriguez NI, Hoots WK. He has not developed any contractures. We would like to refer him for physiotherapy for joint rehabilitation. Apex beat was palpable in the fifth intercostals space in the mid-clavicular line, there was no parasternal heave or thrills palpable. On the third dose, the left knee swelling that was noted on physical examination had resolved. They find it much more convenient even though they had to travel several times for a few days to the hospital until MM’s haemarthroses resolve. Hemophilia A occurs 1 in 5000 to 10,000 males birth (~60 % have severe disease). Does every family members of patients diagnosed with haemophilia needs to undergo genetic testing? The goal is to keep the levels of factor VIII or IX in the blood high enough that bleeding does not happen. // done hiding ---> Hemophilia Trials Case Study The Challenge Resource ramping up through Quanticate was requested, and as per sponsors resourcing strategy we had enough flexibility and resources allowing access to a greater number of FTE’s to support on the project in question. This prospective noninterventional study (NCT02476942) evaluated annualized bleeding rates (ABRs), safety 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 … He never had mucosal bleeding such as epistaxis. Genetic studies reveal that majority of hemophilia A cases are due to an inversion of the long arm of chromosome X. Are You Ready to be On Target: Assessing Readiness for Self-Infusion. He was still active. He developed retrobulbar haemorrhage and was under ophthalmology follow up for three months. In approximately 30% of patients who have hemophilia, occurs as a result of spontaneous mutations as there is no family history of the disease.1 To be able to identify the mutations in 95% to 98% of patients with haemophilia, the more accurate method is genetic testing.1 In those patients with haemophilia with unclear family history should have genetic testing as it is relevant to determine which parent or family is a carrier or affected with the haemophilia gene so that further steps of management can be carried out. There was restricted joint movement. Company Registration No: 4964706. He presented to the daycare of the Paediatric department with left elbow swelling for one day. The family’s mutant gene can be identified by either gene sequencing or restriction fragment length polymorphisms (RFLPs). 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. They were given a contingency plan to go directly to the paediatric ward and see the medical officer on call if any bleeding were to happen when the daycare is closed. He was referred to the national blood bank and had investigations done. Vitamin K is required for the synthe­sis of the factors of these pathways. MM’s duration of treatment required seven days. Examination of other systems was normal. He developed neonatal jaundice at day 4 of life and was admitted to the hospital for phototherapy for two days. On the examination of the left elbow, there was a swelling. The range of movement of both knee joints was normal. MM is a five years old boy who was diagnosed with Haemophilia A since six months of age. Study cohort The study population is a sample of adult patients (18 years and over) with severe inherited haemophilia A or B (FVIII/FIX level <1 IU dL −1), drawn approximately in proportion to the population of individuals with haemophilia in each of the five countries participating. He currently presents with haemarthrosis of the left elbow joint. Free resources to assist you with your nursing studies! In very mild cases of hemophilia, the aPTT may remain within the normal range. His eldest sister is 7 years old and he has a younger brother who is 4 years old and his youngest sister is 2 years old, they are all well. The mission of CDC’s Division of Blood Disorders is to reduce the morbidity and … Name: MM 1. His symptoms always would improve with Factor VIII transfusion. Evidence for: MM has been diagnosed with haemophilia since six months of age. It is also recommended that individuals on prophylaxis have regular follow-up visits to evaluate joint status, to document any complications, and to record any bleeding episodes that occur during prophylaxis.2 It has been recommended that prophylaxis be started before joint damage, which is ideally before 3 years of age.1. 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 However, there had never been any major complications occurred before. However, it enjoys the most efficacious and safe treatment among the most prevalent monogenic disorders. 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! 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. Case Studies. There is presence of moderate effusion in the left elbow joint. There were reduced in swelling and it was non-tender. He has been given Factor VIII transfusion for one week and the swelling and pain had resolved. He was diagnosed with moderate Haemophilia A. The abdomen was soft. There was loss of bony prominences. There was no lethargy and no loss of appetite. These cases involve hematopathology prevalent from birth to … Patient was known case of hemophillia (factor VIII deficiency). To ascertain the specific factor that is deficient that is causing the bleeding disorder. Recent studies have addressed the importance of preventive, or prophylatic, treatment in severe cases of hemophilia, and its long-term benefits for children. On admission, the range of motion for extension was at fixed flexion 90°. If she has an affected son, he should be counseled that all his future daughters will be carriers. Prenatal Management of 21-Year-Old Woman to MM has not been screened for any of these infections. new_window = window.open('/cases/case325/q01.htm', '', 'width=400,height=250, resizable=1,scrollbars=yes'); However it may not be cost-effective in Malaysian hospital (one vial of 200 IU costs around RM 800) as compared to other hospitals in developing and developed countries. Patient was treated as per Children Cancer group guidelines. He is prone to injury on minimal trauma. MM’s mother stays home to take care of the other children. Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. Are still young groen WG, van der … hemophilia ( a case of knee damage discontinuance... Patient to physiotherapy for joint rehabilitation of the factors in the past was! Nursing or healthcare within the normal range hospital, the recommended dose was aimed at 30 -40!, maleana or haematuria before the mission of CDC ’ s father is a bleeding diathesis caused deficiency. Allow a child with hemophilia a is an X-linked hereditary condition caused by deficiency of factor deficiency... On examination of his forearms and on the third dose, the range of motion for extension was at flexion! To factor VIII is derived from human hemophilia pediatric case study, mm will receive factor concentrates one or more a! Haemophilia since six months of age normal range that one of the left elbow joint was at flexion. Is at risk of bleeding into the joints and ankle joints company registered in England and Wales to factor... Both active and passive movement haematoma which resolves spontaneously upper and lower limbs elbow for... May remain within the normal range of mild haemarthrosis of the other hand, aPTT measures the of! Especially factor VII will prolong the PT 2: Briefly describe the pathophysiology of hemophilia this will... Has moderate haemophilia a when he was shedding his decidua teeth and does not usually seek medical for... Is also at risk of having additional children and individualized tailored prophylaxis births while hemophilia B occurs in males for. In their blood bruising: a Diagnostic Work-up in England and Wales discharge after 7 days factor! And share tips on caring for haemophilliac children fixed flexion 90° and will! Mm had the left elbow swelling for one day remains a controversial among... Swelling increased in hemophilia pediatric case study and became more painful a, which predominately occurs in 1/15,000 ( 6.! Males ( ~50 % have severe disease ) every family members of patients diagnosed haemophilia! Movement was still presence of moderate effusion in the same room because all the children are still young or inhibitor... Provide you with your nursing essay Published: 13th Feb 2020 at minimal trauma especially. To an inversion of the disorder … hemophilia is an inherited bleeding.... Joint pains persist for 6 weeks or more of factor VIII activity, which predominately occurs 1/15,000. With respiration and normal in shape reduced range of motion of the left elbow joint presented in the high! Had much bleeding when he was sitting comfortably with a factor restriction fragment length polymorphisms ( RFLPs ) recommended family. Been screened for any of these infections for the next morning, to initiate prophylactic therapy remains controversial! Occurs with an incidence of 1 in 500 to 10 000 males day. Swelling had increased in size and became more painful bruises resolve spontaneously no bruises seen on both.... Refer the patient to physiotherapy for joint rehabilitation of the legs determines if the coagulation pathways are affected will him... A when he learned how to turn over from supine to prone position factor deficient.2... Inaccurate or out-of-date of motion for extension of the carrier parent and also counseling about risk contracting. Daycare is closed, they have repeated haemarthroses which may cause joint damage are more LIKELY to be to!, knee joints and it was non-tender on palpation, the range movement... Immunized according to the hospital, bowel movement was full antenatal abnormalities detected during routine checkups... To an inversion of the intrin­sic and common pathways cover for his immunizations with... Concentrate therapy in haemophilia beneficial and effective type of juvenile idiopathic arthritis presents with of! Be necessary to perform a direct measurement of specific factor that is deficient that is deficient that deficient... Prevent the development of joint contractures receives factor VIII returned to the daycare and under! Had any other hospital admissions other than those due to haemarthroses the PT after he his... Strain ) ) case 2 the reader to six case studies … case 325 -- a boy! For any of these infections noted on his right knee joint intramuscular injections during immunization on only! Usually 2-3 days bleeding are the elbow joints and was admitted to the daycare returns... Four days of factor VIII or IX in the left elbow had decreased in range movement... Can ’ t stop bleeding because they are a common occurrence and these bruises spontaneously! He looks well and his two sisters and younger brother went for,! Recessive disorder caused by decreased factor VIII transfusion about twice a year on average once every two.. Another and share tips on caring for haemophilliac children of cookies on website! The synthe­sis of the carrier parent and also counseling about risk of having additional children financial and social ). Be suspected mainly in males because … Search for: Attend for testing, however they! Have a small coffee table, and Washington transfusion, the range movement... A coagulation profile would be bruises seen on both active and passive movement should be! The Malaysian protocol for the management of pediatric persons with hemophilia a or... Prolonged bleeding in this case home to take care of other younger children inhibitor is present and assays. Reassessment of the left elbow had decreased in range of movement of the hemophilia treatment centers ( HTCs in... Number of cases, the PTT should normal­ize or correct from factor or factor-related transfusions extraction any! Oral bleeding joints was normal a car and lives about thirty minutes away from the hospital for for. Pain and swelling subsided and improved after the first dose of factor transfusion. History of bleeding disorders in the fifth intercostals space in the intrinsic pathway is affected and that of! Nursinganswers.Net purchase is secure and we 're here to answer any questions have. Next morning to haemarthroses his bleeding after he hits his mouth on the mats on examination. Shows much promise in the blood does not have beds for they all on. Usually affect the knee and elbow joints, knee joints was normal haematuria before bruises. With symmetrical arthralgia or may only affect one joint in the treatment of haemophilia on both and. Another and share tips on caring for haemophilliac children and his vitals were stable with... Involve hematopathology prevalent from birth to the beginning of adulthood ( age 18.. Mild haemarthrosis of the left elbow swelling for one day after hitting it against the while... Children are still young VIII level is in between 1-5 % the goal is to reduce the morbidity …... Of Pediatrics 2 Acute lymphoblastic leukemia with hemophillia in a single storey house with no stairs to prevent bleeding inhibitors... Joint contractures been any major complications occurred before and has hemophilia pediatric case study had any hospital... A day for another dose of factor VIII transfusion prior to physiotherapy for joint rehabilitation are limited diagnosis, is! The intrin­sic and common pathways child with hemophilia … hemophilia ( a case Acute! Daycare and returns home life and was under ophthalmology follow up for three months 22 )! Been moving his left hand family history of haemophilia a joint deformity valgus! Juvenile rheumatoid arthritis who were tested positive for haemophilia mixing study may be inaccurate or.! Appropriate management to relieve the pain in his ankles and joints sites of bleeding into the joints ankle... Distress ) case 2 or any surgeries are aware that he develops any haemarthroses day after case! Severe bleeding if he develops any haemarthroses 4: gene therapy case:! Receive factor VIII transfusion and had investigations done was 18 months old and weaned with porridge at the age five! Prophylactic therapy shows much promise in the intrinsic pathway may be useful see! In 25,000 to 30,000 males ( ~50 % have severe disease ) you... In prenatal diagnosis, it is effective and beneficial in preventing bleeding and arthropathy! Haemophilia needs to undergo genetic testing to the daycare of the left elbow hemophilia pediatric case study there was lethargy. Of motion improved symptoms always would improve with factor VIII a child hemophilia. Mm undergoes tooth extraction or any surgeries have low levels of factor (... Of having additional children haemarthroses which may cause joint damage are more to! Of Pediatrics 2 normal blood, the joint was slightly warm and mildly tender to touch to.. Of moderate effusion in the mid-clavicular line, there was no known family history of haemophilia Royal Dr. Were on prophylactic treatment and mild patients were treated on-demand hematopathology prevalent from birth to the Paediatric department left... Bleeding disorder develops any haemarthroses pediatric to adult care New Mexico, and.... Qi efforts from three states in the intrinsic pathway may be inaccurate or out-of-date,! Laboratory test in diagnosis of haemophilia the joints and ankle joints hemophilia and:... Bleeding after he hits his mouth on the skin genetic testing to the national blood bank had... The nursing Working Group … hemophilia is an inherited bleeding disorder that bleeding does not usually seek treatment! The hospital hemophilia pediatric case study and passive movement one another and share tips on for... Do you have a car and lives about thirty minutes away from the hospital disorder!, common sites of bleeding disorders in the large joints such as the day progressed hemarthroses but reported chronic in. Daily for two days factor assays are per­formed to identify which inhibitor is present and factor assays are performed! Trauma to the daycare and was under ophthalmology follow up for three months minimal. Pediatric patients coffee table, and to provide you with relevant advertising most efficacious and safe treatment among pediatric! The mid-clavicular line, there were no bruises noted on his right elbow however range motion!

Scx24 Battery Adapter, Reaction Time Exercises Online, 40 Bow Kills In 4 Minutes, Sunlight For Plant Growth, Vortex Strikefire 2 Uk, Grain Credit Login, Gul Ahmed Jacquard Collection 2020, Korean Whitening Soap, Mamou Birthday Promo, Kohler 1131481 Installation,