MM is a five years of age boy who was simply diagnosed with Haemophilia A since six months of age. He offered to the daycare of the Paediatric team with left elbow swelling for just one day after striking it from the wall while playing. The bloating increased in proportions and became more painful. The kept elbow had reduced in flexibility as the day progressed. He was unable to fully stretch his arm. His father then brought him to the daycare the next morning. There was no other swelling or bruises noticed by the father. On systemic review, there is no fever, no haematuria, no bleeding noticed, bowel movement was normal. He was still effective. There was no lethargy and no loss of desire for foods.
On physical exam, he looks well and his vitals were steady. There is no pallor or jaundice. On study of his top and lower limbs, there were no bruises mentioned on the skin. There was a joint deformity with valgus deformity known on his right elbow however flexibility of the right elbow was normal. Around the study of the still left elbow, there was a swelling. There is lack of bony prominences. On palpation, the joint was warm and sensitive to touch. There is certainly presence of average effusion in the still left elbow joint. There is restricted joint movements. Flexion was 0-140 however on expansion movement there is a 90 predetermined flexion. Examination of other systems was normal.
He was diagnosed with haemarthrosis of the left elbow joint. MM was transfused with 250 IU of Factor VIII. MM returned to the daycare the very next day for another medication dosage of Factor VIII. He was presented with Factor VIII transfusion 250 IU once daily for another four times. The dose was then increased to 300 IU double daily for just two times. The pain and bloating subsided and advanced following the first dose of Factor VIII transfusion and his flexibility upgraded. He was discharge after seven days of Factor VIII transfusion when the still left elbow haemarthrosis fixed.
2) CLINICAL HISTORY
Chief complaint
MM is a five years old boy who was identified as having Haemophilia A since half a year of age. He offered to the daycare of the Paediatric office with left elbow swelling for one day.
History of present illness
MM presented with left elbow swelling for one day after reaching it contrary to the wall while using his brother in the afternoon prior to admission. There is no bruising or blood loss at the site of damage. The swelling acquired increased in size and became more painful and had decreased in range of motion as your day progressed. He was unable to fully expand his arm. He didn't use any medications to alleviate the pain and motion of the joint will worsen the pain. MM's dad pointed out that MM was not moving his still left hand. His daddy then helped bring him to the daycare another morning. There is no other bloating or bruises noticed by the daddy. On systemic review, there was no fever, no haematuria, no mucosal hemorrhage such as gum bleeding or epistaxis found, bowel movement was normal. He was still energetic regardless of the pain in his still left elbow. His rest was not affected. There is no lethargy and no loss of hunger.
MM was first identified as having Haemophilia A when he was half a year old. His parents noticed that he bruised easily when he learned how to turn over from supine to prone position. There would be bruises seen on the flexors' surface of his forearms and on the extensors' surface of the hip and legs. He was referred to the national blood vessels bank and experienced investigations done. He was identified as having moderate Haemophilia A. His parents and his two sisters and youthful brother proceeded to go for trials, however, they were all tested negative for the Haemophilia.
MM has had four medical center admissions due to haemarthroses. Each entrance, he requires Factor VIII transfusion. You will find events when MM's parents prefers to bring him to the daycare daily for factor VIII transfusion instead of admission to the ward when MM develop haemarthroses. Therefore, MM will acquire Factor VIII transfusion at the daycare and dividends home. His father would bring him back again to a healthcare facility again the very next day for another dose till the pain and bloating in the joint resolves. His symptoms always would improve with Factor VIII transfusion. MM gets Factor VIII transfusion about twice a year on average. The joint mostly affected is his right leg joint. His previous hospital entrance was in May 2009 which is 5 calendar months ago he was accepted scheduled to his right knee haemarthrosis and was transfused with Factor VIII for 2 days. He has not developed any contractures.
MM also bruised easily and on average once every two weeks. He will not usually seek treatment for bruises because they are a common incident and these bruises handle spontaneously. However if the bruising is large in proportions, then the parents will bring him to the daycare. In case the daycare is finished, they will bring MM straight to the paediatric ward if he develops any haemarthroses. His parents always need to limit and supervise his activity because MM is an active son who likes playing and playing around. His parents also have to alert his siblings to be cautious while playing with him. There were episodes where there was hold off in seeking medical discussion sometimes because MM's parents had been busy, or MM's dad was outstation. However, there acquired never been any major difficulties happened before.
He never had mucosal blood loss such as epistaxis. He never really had haemetemesis, maleana or haematuria before. He never had much blood loss when he was losing his decidua pearly whites and does not require Factor VIII. His parents know that he requires Factor VIII cover if MM goes through tooth extraction or any surgeries.
Past medical history
MM has not had every other hospital admissions apart from those due to Haemophilia. He never had any blood transfusion before. He never had any surgeries done. He does not have any known medicine allergies.
Family history
MM is the second child of four siblings. His eldest sister is 7 years old and he has a younger brother who is 4 years of age and his youngest sister is 24 months old, all of them are well. MM's parents are also well. There is absolutely no family history of haemophilia on both his maternal and paternal part. MM's mom has two aged brothers nevertheless they don't have haemophilia. There was no record of blood loss disorders in the family.
Birth history
MM was born at term in Medical center Batu Pahat via spontaneous genital delivery. There were no antenatal abnormalities detected during regular antenatal checkups. There were no perinatal or post natal problems. He developed neonatal jaundice at day 4 of life and was accepted to a healthcare facility for phototherapy for just two days.
Developmental history
MM happens to be not participating pre-school. He will attend kindergarten next yr. His developmental milestones work to years. He did not develop any contractures or joint deformity. Therefore, he doesn't have problems with his gross motor and fine motor unit development.
Dietary history
MM is on an adult diet now. He eats healthy meals which are usually made by his mom. He was breastfed till he was 18 months old and weaned with porridge at age five months.
Immunization history
MM has been immunized in line with the immunization schedule. Each time he previously his vaccination, he only develop a slight haematoma which resolves spontaneously. He usually advances a minor haematoma with the intramuscular shots during immunization. He didn't require Factor VIII cover for his immunizations. His previous immunization was at 18 months.
Social history
MM's father is a tutor and his mom is a housewife. MM's father were required to miss work sometimes or he sometimes is past due to school anticipated to MM's condition which requires frequent visits to a healthcare facility. The school's headmistress is aware of MM's father's situation and organized for substitute educator when he needs to come in late to school. MM's mother stays home to take care of the other children. His parents confirms it hard to make arrangement with the school and taking care of the other children, which explains why occasionally they favor sending MM to the daycare daily for his factor VIII transfusion alternatively than clinic admissions when MM develop haemarthroses. His parents have an automobile and lives about thirty minutes away from a healthcare facility. They find it much more convenient even though that they had to travel several times for a couple of days to the hospital until MM's haemarthroses handle.
In MM's home, you can find minimal furniture to prevent MM from injuring himself. They only have a small coffee table, and in any other case they all take a seat on the mats on the floor. They all sleep together in the same room because all the children remain young. They also don't have beds for each of them rest on mattresses only. He lives in one storey home with no stairs to avoid MM from slipping off the stairs.
MM's daddy has heard of the Haemophilia modern culture and he is interested in joining the population. However, he previously been occupied and hasn't joined the world yet. He knows about the importance of Medic alert for MM and programs to produce a medic alert chain for MM.
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3) Studies ON CLINICAL EXAMINATION
On general assessment, MM was alert and comfortable. He was seated comfortably with a sling bandage of his left elbow. He searched well nourished. He had not been in severe pain. There was no jaundice or pallor.
Anthropometric measurements:
Weight: 18kg (on the 50th percentile)
Height: 105cm (on the 25th percentile)
His vital signs or symptoms were normal:
Pulse: 92 beats per minute
Respiratory rate: 18 breaths per minute
Blood pressure: 100/70
Temperature: 37Celsius
Examination of the top limbs:
There were no bruises observed on the skin. On the examination of the remaining elbow, there is a swelling. There was loss of bony prominences. On palpation, the joint was just a bit warm and mildly soft to touch. There is presence of average effusion in the remaining elbow joint. There is restricted joint motion. Flexion was 0-140 however on expansion movement there is a 90 permanent flexion. On study of the right elbow, there is a joint deformity with valgus deformity known on his right elbow however flexibility of the right elbow was normal.
Examination of the lower limbs:
There were no bruises seen on both lower limbs. The left knee was just a little swollen. It had been non-tender on palpation and it had not been warm. The range of motion of both knee joints was normal. Both ankle joint bones were normal. There were no contractures seen.
Cardiovascular examination
There were no torso wall deformities no scars. Apex do better than was palpable in the fifth intercostals space in the mid-clavicular series, there is no parasternal heave or thrills palpable. First and second heart and soul sounds were listened to, there were no extra heart sounds or murmurs.
Respiratory examination
The trachea was not deviated. The torso growth was normal. Tactile fremitus was equivalent on both edges. Percussion of the lungs was resonant and equal. There were equal, vesicular breath does sound on both lungs. There have been no adventitious does sound.
Abdominal examination
The whole abdominal steps with respiration and normal in form. It was not distended. You will find no surgical scars. The belly was soft. It had been non-tender. There have been no public palpable. There were no hepatosplenomegaly. Bowel noises were present.
4) PROVISIONAL AND DIFFERENTIAL DIAGNOSES WITH REASONING
Provisional analysis:
Haemarthrosis of the still left elbow joint
Evidence for: MM has been identified as having haemophilia since six months of age. In patients with haemophilia, common sites of bleeding are the elbow joints, leg joints and ankle joint joints. MM possessed the remaining elbow swelling after minimal injury to the left elbow. MM experienced developed past haemarthroses of the bones after minimal injury before which was similar to this episode.
Differential diagnosis:
1) Septic arthritis
Patients with ruined joints tend to be susceptible to septic arthritis. Regarding haemophilia patients, they may have repeated haemarthroses which may cause joint harm will be vunerable to infection.
Evidence against: Fever is a visible feature in patients with septic joint disease. MM was afebrile.
2) Juvenile Idiopathic Arthritis
Juvenile Idiopathic Joint disease presents with symmetrical arthralgia or may only have an effect on one joint in the oligoarthritis type of juvenile rheumatoid arthritis. MM presents with pain and bloating in the top joint parts such as knees, ankles and wrists.
Evidence against: Juvenile idiopathic arthritis usually reveals during childhood. It is a serious disease where in fact the joint discomfort persist for 6 weeks or more. MM has been having episodes of joint pain and swelling which present acutely and resolves spontaneously after having a few days since he was six months of age making this diagnosis improbable. MM also has a brief history of easy bruising. This isn't a clinical feature of juvenile idiopathic joint disease. In juvenile idiopathic joint disease, there is characteristic joint disease such as polyarthritis or oligoarthritis, with fever and there is also morning stiffness of the joint parts which is a sign that MM doesn't have.
5) IDENTIFY AND PRIORITISE THE PROBLEMS
1. Swelling at the departed elbow
MM complained of pain and swelling of the still left elbow joint. The correct management to relieve the pain and swelling is Factor VIII infusion. It might be the definitive treatment because the use of analgesics such as aspirin and NSAIDS aren't advised for him as it can cause bleeding in patients with haemophilia.
2. Threat of joint damage and development of contractures
MM can be an active son who likes to play and playing around. He is susceptible to injury on nominal trauma. He is rolling out haemarthroses at least double a year. Recurrent haemarthroses at the same joint will probably to cause joint destruction that will lead to osteoarthritis, limitation in joint motion and develop contractures. He also needs to be referred for physiotherapy when the pain has subsided. Physiotherapy can be an important element to avoid the development of joint contractures.
3. Risk of bleeding
MM is also at risk of heavy bleeding if he injures himself. He was accepted in the hospital for 3 times when he was three years old in November 2007 where MM had a semester and his face struck the floor. He developed retrobulbar haemorrhage and was under ophthalmology follow-up for 90 days. He didn't develop intracranial bleed. The swelling subsided with Factor VIII transfusion and experienced no complications along with his vision. With this past history, MM is at risk of blood loss at minimal stress. The best dangerous risk is the fact he advances intracranial haemorrhage if he had a semester and has a mind stress. His parents will need to supervise his activity.
4. Threat of developing disease from factor or factor-related transfusions
MM requires regular factor transfusion. As the factor VIII is derived from individuals plasma, MM reaches risk of contracting Hepatitis B, Hepatitis C or HIV attacks. MM has not been screened for just about any of these infections. It would be suitable for MM to be screened as recommended by the Malaysian process for the management of haemophilia.
5. Difficulty experienced by caregivers
MM's father is working as a professor and often forced to miss work or be past due to work in order to manage MM when he requires factor VIII transfusion. The headmistress of the institution knows his father's difficulty and tries to arrange for substitute professor when he misses work or had to come in late when he must take MM to a healthcare facility. MM's mother must look after other younger children. Haemophilia is a chronic condition and there will be ongoing stress in taking care of MM's needs by the parents. MM's parents may find support groups including the haemophillia contemporary society useful. The modern culture enables the parents to find support and find methods to cope with MM's condition as the contemporary society organized discussions and seminars to teach about haemophilia and also conferences with other parents whose children has haemophilia and are faced with similar challenges. These parents can encourage one another and share tips on caring for haemophilliac children.
6) PLAN OF INVESTIGATION, JUSTIFICATIONS FOR SELECTING TESTS OR Strategies, AND INTERPRETATION OF RESULTS
Investigations done at 6 months old by the nationwide blood lender:
1. Coagulation profile
Justification: MM offered easy bruising at his limbs which signifies that may be scheduled to a bleeding disorder. As such a coagulation account would be useful to decide if the coagulation pathways are afflicted.
Results: Prothrombin time (PT): 9. 9 sec (normal) [Normal range: 9. 8 - 13. 5 secs]
APTT: 72. 5 sec (extended) [Normal range: 23-33 a few moments]
Interpretation: Prolonged APTT indicates that the intrinsic pathway is affected and that one of the factors in the intrinsic pathway may be lacking. In Haemophilia, the APTT is usually extended.
2. Factor VIII assay
Justification:
To ascertain the precise factor that is deficient that is causing the blood loss disorder.
Results: Factor VIII level: 2. 4%
Interpretation: MM has average haemophilia A anticipated to his Factor VIII level is among 1-5%.
For this current presentation, there were no investigations were done at the daycare.
7) WORKING DIAGNOSIS AND PLAN OF MANAGEMENT ON ADMISSION
Working analysis: Haemarthroses of the remaining elbow joint due to Haemophilia A
My suggested plan of management:
1) Factor VIII transfusion with a aim for serum factor level of 40% twice daily till the bloating and pain resolves
2) Sling bandage of the left elbow
3) Ice load up to the left elbow
4) To rest the elbow joint by restricting motion until swelling and pain reduces
5) Refer the individual to physiotherapy for joint treatment of the damaged joint.
6) To teach the parents to care for the IV gain access to at home and learn how to manage in case of blood loss at that site occurs.
7) To teach the parents on care for their child and precautionary measures to prevent injury
8) To recommended and encourage the parents that MM will benefit if he starts bicycling with a tricycle for safeness and wears a difficult helmet such as street motorcycle face helmet. When he's old enough to figure out how to ride the bike, he should wear protective equipment such as the helmet with protecting elbow and knee guards.
8) Summation OF INPATIENT PROGRESS (INCLUDING MAJOR EVENTS, CHANGE OF Examination OR MANAGEMENT AND OUTCOMES)
08/10/2009 - 12/10/2009: MM offered to the daycare and was transfused with 250 IU Factor VIII once a day for five days and nights. On reassessment, the kept elbow joint haemarthrosis upgraded following the first dose of Factor VIII. There were reduced in swelling and it was non-tender. On the 3rd dose, the left knee bloating that was noted on physical exam had resolved. The range of movement of the still left elbow was markedly increased by the fourth dose. On admission, the number of movement for extension was at fixed flexion 90. After four days of factor VIII transfusion, the number of action for extension was at fixed flexion 45.
13/10/2009 - 14/10/2009: On reassessment of the range of movement had improved, nevertheless the range of movement was still limited. The range of motion for extension of the left elbow joint was at preset flexion 30. There was still presence of gentle haemarthrosis of the left elbow. The prospective percentage of factor was then directed to be 40%, therefore, the dose of Factor VIII was increased to 300 IU twice per day which is 12-hourly.
15/10/2009: After 7 days of infusion of factor VIII, the bloating completely resolved and the range of movement of the left elbow joint was full.
MM's duration of treatment required seven days. He previously Factor VIII transfusion of 250 IU once daily for five times, which was the target serum factor VIII was targeted at 30%. Based on the Paediatric Protocols for Malaysian Hospital, the recommended dosage was targeted at 30%-40% in haemarthroses. Factor VIII should essentially be given every 8-12 time and the length for haemarthroses is usually 2-3 times.
9) DISCHARGE PLAN, COUNSELLING AND MOCK PRESCRIPTION
Discharge plan:
- Referral to the physiotherapist for joint rehabilitation
Counseling:
1) MM's father was recommended to supervise and restrict certain activities which could increase risk of trauma or blood loss such as jumping or contact activities games.
2) MM's dad was told to bring him back to the daycare if there were episodes of hemorrhage into the joints or any joint swelling or any spontaneous hemorrhage. These were given a contingency plan to go directly to the paediatric ward and see the medical official on call if any hemorrhage were to occur when the daycare is closed down.
3) MM was prompted to travel for physiotherapy. MM's father was educated regarding recurrent haemarthroses will cause of joint devastation. Physiotherapy is a good exercise to avoid contractures.
Mock prescription
Name: MM 1. Syrup paracetamol 270 mg prn for pain
Age: 5 years old
I/C no: 040611-01-0387
Diagnosis: Haemarthrosis of left
elbow Personal and stamp
10) REFERRAL Notice (Necessary)
Dr Karen Lai,
Paediatric Division,
Hospital Batu Pahat
Haematologist,
Haematology division, 14th Oct 2009
Dear Sir,
Re: Patient: MM, I/C amount: 040611-01-0387 : Haemarthrosis of the left elbow joint
Thank you for experiencing MM who's a five years of age boy who was simply identified as having Haemophilia A since he was half a year old. He has had recurrent episodes of bleeding into the joints and it usually impact the leg and elbow joint parts. He currently reveals with haemarthrosis of the left elbow joint. On physical examination, there was warmth and tenderness of the kept elbow joint on palpation. There was reduced range of movement on both energetic and passive movements. Within the right elbow, there is a joint deformity mentioned with valgus deformity however it was non-tender and selection of movement was full. He has been given Factor VIII transfusion for just one week and the bloating and pain possessed resolved. The range of movement of the remaining elbow joint was also increased.
We wish to refer him for physiotherapy for joint rehabilitation. Hopefully that his family could also be taught rehabilitation exercises that you can do at home to prevent joint contractures in view of his recurrent bleeding into the bones. Kindly review the individual and determine if he needs factor VIII transfusion prior to physiotherapy treatment. Thank you.
Yours truly,
___________
Karen Lai,
Paediatric Division,
Hospital Batu Pahat
11) LEARNING ISSUES WITHIN THE 8 IMU OUTCOMES
1) Professionalism, ethics and personal development
Does every family members of patients diagnosed with haemophilia must undergo genetic screening?
In around 30% of patients who have hemophilia, occurs therefore of spontaneous mutations as there is no family history of the condition. 1 To be able to identify the mutations in 95% to 98% of patients with haemophilia, the greater correct method is genetic testing. 1 In those patients with haemophilia with unclear family history should have genetic testing as it is relevant to ascertain which parent or family is a carrier or affected with the haemophilia gene so that further steps of management can be carried out. These further steps can include offering genetic tests to the siblings of the carrier father or mother and also counseling about risk of having additional children. Applicants for genetic screening likewise incorporate patients who've a examination of hemophilia, at-risk women who are related to the affected man that has a known mutation, and feminine service providers of hemophilia A or B seeking prenatal medical diagnosis.
In prenatal identification, it can be done via chorionic villus sampling or amniocentesis. The family's mutant gene can be recognized by either gene sequencing or restriction fragment size polymorphisms (RFLPs).
In conclusion, genetic assessment is not obligatory in patients with haemophilia. However, it is recommended for family members of the influenced patients who had been tested positive for Haemophilia. If the mother was examined to be always a carrier, it will be beneficial and important to learn if she really wants to have more children in the foreseeable future. If prenatal analysis establishes the fetus to obtain carried the haemophilia gene, or an damaged fetus, she must be counseled that in Malaysia it is illegal to possess abortion. Termination of being pregnant however, might occur if the fetus endangers the physical or mental health of the mom. If she has a daughter who is a carrier, her little girl is recommended to obtain screening before relationship. If she's an affected son, he should be counseled that all his future daughters will be companies. Family members that are affected that plan to marry should be counseled about the risk of transmitting of the afflicted gene from one generation to some other. Genetic evaluation and counseling should only be offered when proper follow-up such as guidance, support and options can be offered to those having the test.
References:
1. Rodriguez NI, Hoots WK. Advances in Haemophilia: Experimental Aspects and Therapy. Pediatr Clin N Am 55 (2008) 357-376
2) Clinical Skill
What is the laboratory approach to diagnose haemophilia?
Hematological analysis is important laboratory test in analysis of haemophilia. A coagulation screen typically includes a Prothrombin Time (PT), activated Partial Thromboplastin Time (aPTT), Thrombin Clotting Time (TT), fibrinogen level, a platelet matter, and a complete blood count. 1 The PT measures the factors of the extrinsic and common pathways. Deficiencies of these factors especially Factor VII will extend the PT. Vitamin supplements K is required for the synthesis of the factors of these pathways. Therefore, patients with vitamin K deficient conditions could also have a prolonged PT. On the other hand, aPTT steps the factors of the intrinsic and common pathways. Deficiencies of these factors, including factor VIII and factor IX will have an extended aPTT. 1 Therefore, in the case of my patient, MM, he has a normal PT and an extended aPTT. In very minor situations of hemophilia, the aPTT may stay within the normal range. In such cases it'll be essential to perform a primary measurement of specific factor levels to help make the diagnosis.
A mixing study may be useful as it can determine if the individual has a clotting factor deficit or an inhibitor to one factor. A mixing review is a test performed on blood plasma and is identify as when one area of the patient's blood is blended with one part of normal bloodstream which has 100% of normal factor levels. Once the blood from a patient with a factor VIII deficit is blended with normal bloodstream, the PTT should normalize or correct. However, if there is inhibitor to a factor in the patient's bloodstream, it disables the factor in the normal blood which results in factor level being low and the aPTT will be long term or does not correct. Therefore, in conclusion, correction with mixing up indicates factor deficiency; failure to improve signifies an inhibitor. Inhibitor assays are then performed to identify which inhibitor is present and factor assays are percreated to recognize which factor is lacking. 2
Reference:
1. Soliman DE, Broadman LM. Coagulation problems. Anesthesiology Clin 2006; 24:549-578
2. Ballas M, Kraut EH. Bleeding and bruising: A Diagnostic Work-up. Am Fam Medical doctor. 2008; 77(8):1117-1124.
3) Critical thinking and research
Is prophylactic factor focus remedy in haemophilia beneficial and effective?
In prophylaxis factor focus therapy, hemophiliacs get factor concentrates a number of times weekly to prevent hemorrhage. The goal is to keep the degrees of factor VIII or IX in the bloodstream high enough that hemorrhage does not happen. There may be primary prophylaxis, extra prophylaxis and individualized designed prophylaxis. Main prophylaxis remedy is when presenting the factor concentrates before hemorrhage occurs. Secondary prophylaxis therapy is the regular use of factor concentrates for a brief or long period of time to reduce blood loss recurrence in those patients with preexisting osteo-arthritis and those who have frequent acute hemarthroses. Individualized tailored prophylaxis remedy is given predicated on the severity of haemophilia, the blood loss habits and joint participation and individual needs. 1
The Medical and Scientific Advisory Council (MASAC) got recommended that principal prophylaxis be looked at optimal therapy for individuals with severe hemophilia A or B (factor VIII or factor IX <1%). 2 This suggestion had been used and used by the National Hemophilia Foundation in america. The recommendation is that prophylactic remedy should be given early on which is before the onset of regular bleeding, with the mark of monitoring trough factor levels above 1% between doses. 2 This may usually be accomplished by supplying 25-50 FVIII models/kg three times per week or almost every other day, or 40-100 Factor IX products/kg 2-3 times weekly. Additionally it is recommended that individuals on prophylaxis have regular follow-up sessions to evaluate joint position, to document any complications, and to record any hemorrhage episodes that appear during prophylaxis. 2 It's been recommended that prophylaxis be started out before joint damage, which is ideally before 3 years of age. 1
In a Cochrane review by Stobart et al 3, included four studies where the results exhibited that there is a statistically significant difference in the reduced amount of joint bleeds in patients who were given standard prophylaxis when compared to a placebo. It also found that secondary effects such as time loss to institution and employment because of the illness was statistically significantly reduced among those obtaining primary prophylaxis compared to a placebo. The review also quoted one review which showed a twice regular infusion of higher medication dosage of factor focus possessed a statistically significant benefit in reducing the number of bleeds per year in comparison with a lower dosage and less repeated administration of transfusion. However the authors figured there was inadequate proof from randomized control tests to recommend the utilization of main prophylactic factor infusion in the management of patients with haemophilia.
In final result, to start prophylactic therapy remains a controversial issue on the list of healthcare givers. Regarding my patient, MM, he is diagnosed with average haemophilia, it is a question where prophylactic remedy is preferred for him. Prophylactic therapy is usually suggested in people that have severe haemophilia. Studies possessed showed it works well and beneficial in stopping hemorrhage and joint arthropathy. 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 producing and developed countries. Prophylactic remedy shows much assurance in the treating haemophilia. With more research and additional studies, prophylactic therapy may be possible in Malaysia.
References:
1. Rodriguez NI, Hoots WK. Improvements in Haemophilia: Experimental Aspects and Remedy. Pediatr Clin N Am 2008; 55: 357-376
2. National Hemophilia Foundation. MASAC Suggestion Concerning Prophylaxis (Regular Supervision of Clotting Factor Focus to Prevent Blood loss). [ONLINE][2007] Available from: http://www. hemophilia. org/NHFWeb/Resource/StaticPages/menu0/menu5/menu57/masac179. pdf
3. Stobart K, Iorio A, Wu JK. Clotting factor concentrates directed at prevent blood loss and bleeding-related difficulties in people with hemophilia A or B. Cochrane Repository of Systematic Reviews 2006, Issue 2.
4) Self aimed lifelong learning and information management
What is the long-term management and future improvements of treatment of Haemophilia A?
The management of haemophilia is factor transfusion which is aimed to avoid the hemorrhage that had took place. Other option is primary prophylaxis with regular factor infusions to prevent bleeding. However this approach is costly and transfusion is ineffective in those patients that got developed inhibitors. Consequently, researchers are looking into a way for a remedy of haemophilia which is gene therapy.
The purpose of gene therapy is to change a faulty gene sequence to achieve complete reversion of disease phenotype in the duration of the patient. You will discover three reasons that haemophiliacs are the ideal applicants for gene transfer therapy. Firstly, is because there a wide range of cell types which are able to synthesize biologically energetic clotting factor. Second, there's a wide therapeutic windowpane which makes it unnecessary to have strict gene manifestation. Thirdly, there are large and small animal models that permit the study of safe practices and efficacy of gene remedy prior to initiation of individual trials. 1
Gene therapy involves the transfer of genes that express a particular gene product into individual cells producing a therapeutic edge. In haemophilia, the goal of gene copy is directed at the secretion of an operating factor VIII or IX necessary protein. Some studies uncovered that therapeutic impact has been seen with the gene copy, however stable development of the coagulation protein is possessed yet to be proven in human themes. These studies have didn't show long-term gene expression seen in preclinical canine models. 2 There continues to be much research and investigations needs to be done to have gene remedy as a modality of treatment for haemophilia.
