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Notes on Hemophilia_Punita V. Solanki

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Notes on Hemophilia_Punita V. Solanki

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Notes for occupational therapy undergraduate course curriculum in India by Punita V. Solanki

Notes for occupational therapy undergraduate course curriculum in India by Punita V. Solanki

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Notes on Hemophilia_Punita V. Solanki

  1. 1. Disclaimer The occupational therapy undergraduate notes have been prepared by Ms. Punita V. Solanki (Ex- Assistant Professor, Occupational Therapy School and Centre, Seth G. S. Medical College and King Edward VII Memorial Hospital, during her teaching tenure) as per the Maharashtra University of Health Sciences University curriculum requirements, between the years 2001 and 2012 and the references of the textbooks have been listed at the beginning or the end of each topics. Occupational therapy students are directed to refer the latest editions of the listed references or additional references to upgrade the latest information for the concerned topics and keep up-to-date with the latest evidence-based practice literature. However, these notes will be useful guide for preparing updated notes as per the latest syllabus requirements set by the concerned university. For further information may contact Ms. Punita V. Solanki. MSc (OT); Fellow ACOT, ADCR (Mumbai) ֍ www.orthorehab.in
  2. 2. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. Syllabus: Old/New/Revised 7. Haematological Conditions: Explain the term Hemophilia. Describe its physical and psychological implications and Occupational Therapy management. References 1. Davidson’s Principles and Practice of Medicine – Nicholas A. Boon, Nicki R. Colledge, Brian R. Walker, John A. A. Hunter. 20th Edition 2006. Chapter 24: Blood Disorders (Coagulation Disorders: Congenital Bleeding Disorders). Page 1057-1064. 2. What is Hemophilia? By World Federation of Hemophilia. (From www.wfh.org) 3. Guidelines for the management of Hemophilia by World Federation of Hemophilia. 2005. (From www.wfh.org) 4. Treatment options in the management of Hemophilia in Developing Countries – Mammen Chandy. World Federation of Hemophilia. 2005. (From www.wfh.org) 5. Guide to exercises for Hemophiliacs – Jayashri S. Kale. 1st Edition 1999. Hemophilia: is an X Linked congenital bleeding disorder with a frequency of about 1 in 10,000 births. It is usually inherited through a parent’s genes. It can also occur as a sporadic hemophilia with no family history of it which is seen in 30% of cases. Types 1. Hemophilia A: is due to reduction or deficiency of factor VIII and it is the most common congenital disorder of coagulation, representing 80-85% of the total. (Factor VIII is primarily synthesized by the liver and endothelial cells but other organs such as the spleen, kidney and placenta may also contribute. Plasma factor VIII has a half-life of about 12 hours and is carried non covalently bound to the von Willebrand Factor [vWF]). As the factor VIII gene is on the X chromosome, hemophilia A is a sex linked disorder. 2. Hemophilia B: (Christmas Disease): Aberrations of the factor IX gene, which is also present on the X chromosome result in a reduction of the plasma factor IX level giving rise to hemophilia B. This disorder is clinically indistinguishable from hemophilia A but is less common. 3. von Willebrand Disease: is a common but usually mild bleeding disorder. The gene for von Willebrand factor [vWF] is located on chromosome 12 and therefore the disorder is inherited in an autosomal fashion. (The vWF is a protein synthesized by endothelial cells and megakaryocytes that perform two principal functions. It acts as a carrier protein for factor VIII to which it is non covalently bound. A deficiency of vWF therefore results in a secondary reduction
  3. 3. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. in the plasma factor VIII level. Its other function is to form bridges between platelets and sub- endothelial components allowing platelets to adhere to damaged vessel walls. Severity of Hemophilia: depends upon the degree of deficiency of plasma Clotting factor level. Normal factor level is 50 to 150%. Severity of Hemophilia (UK Criteria) S. No Degree of Severity Factor VIII or IX Level Clinical Presentation 1. Severe < 2% (<1%) Spontaneous haemarthroses and muscle haematomas 2. Moderate 2 - 10% (1 - 5%) Mild trauma or surgery causes haematomas 3. Mild 10 - 50% (5 - 30%) Major injury or surgery results in excess bleeding Values in brackets are given by WFH. Clinical Features: It is unusual for excessive bleeding to be noticed until about 6 months of age, when superficial bruising or a haemarthroses may occur. This apparent delay in presentation is due to the relative inactivity of babies in the first few months of life and it is only when they begin to move about that the increase incidence of trauma results in bleeding. Severe hemophilia is usually diagnosed within the first 2 years of life; individuals with moderate and mild forms may escape diagnosis until adulthood. 1. Recurrent Haemarthroses: Usually begins spontaneously without apparent trauma in severe haemophiliacs. Most commonly affects large joints of the body such as knees, elbows, ankles and hips. Severe haemophiliac will have one or two bleeds each week. If not treated bleeding continues leading to hot swollen painful joint which may persist for days before subsiding. Recurrent bleeds into joints lead to synovial hypertrophy, destruction of the cartilage and secondary osteoarthrosis. The resultant limitation of movement may greatly reduce the function of joints making walking or functional activity difficult. 2. Muscle Haematomas: occur most commonly in the calf and psoas muscles but can arise in almost any muscle. Untreated haemorrhage causes rise in pressure with eventual ischemia, necrosis, fibrosis, subsequent contracture and shortening of the muscles and tendons. This may even compress the nerves. 3. Though joints and muscles are the most common sites for haemorrhage, bleeding can occur at almost any site. For example: intracranial bleed, nose bleed, bleeding in the gums of teeth,
  4. 4. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. hematuria, hemoptysis, hematemesis etc., bruises, cuts can occur at any site due to injury/trauma or surgery. Diagnosis 1. History of easy bruising, spontaneous bleeding, excessive bleeding. 2. Family history of bleeding disorder. 3. Screening Tests: a. Platelet Count, Bleeding Time, Prothrombin Time, Activated Partial Thromboplastin Time (aPTT) in severe and moderate haemophiliacs. b. Factor Assay to demonstrate deficiency of FVIII or FIX. c. Severity based on clotting factor levels. 4. Genetic Testing of all the family members to diagnose hemophilia in undiagnosed relatives and to know the carriers in the family. 5. Prenatal Diagnosis when family history is positive: By Chorionic Villous Sampling or biopsy which is done at 10-11 weeks of gestation. 6. To test for virus transmissions: HIV, Hepatitis A, B, C, D, Erythrovirus etc. If any. Medical Treatment 1. Intravenous infusion of factor concentrates. These factor concentrates are freeze dried and stable at 4°C and can be stored in domestic refrigerators. Factor concentrates are prepared from blood donor plasma which is screened for hepatitis B, C and HIV viruses and has undergone a viral inactivation process during manufacture. Factor concentrates can also be prepared by recombinant technology, are expensive but safer than those derived from plasma. 2. Fresh Frozen Plasma or Cryoprecipitate. 3. Administration of Desmopressin, a synthetic hormone (DDAVP), can raise factor levels in patients with mild to moderate hemophilia. 4. Antifibrinolytic drugs for example: tramexamic acid, epsilon amino caproic acid is effective for mucosal bleeds as an adjunctive therapy. 5. PRICE Principle: (Prevent further bleed, by Rest, Icing, Compression and Elevation). 6. Analgesia: Safe drugs are paracetamol and acetaminophen. Patients should not be given analgesics that affect platelet function i.e. Aspirin or any NSAIDS. 7. Management of Complications such as Inhibitor (Anti factor antibody) development (By bypassing agents such as recombinant factor and prothrombin complex concentrates including the activated ones such as FEIBA and Autoplex) and viral transmissions.
  5. 5. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. Surgical Treatment: With prophylactic and post-operative coverage of clotting factor concentrates. 1. Dental Procedures. 2. Orthopaedic Procedures. Commonest procedures are surgical synovectomy, radioisotopic synovectomy and chemical synovectomy for chronic haemarthroses. Occupational Therapy Assessment and Treatment Plan for Hemophilia Assessment This includes a detailed medical history since early childhood, family history of hemophilia or any other coagulation disorder. Look for areas of bleeding in the body with its frequency and its effects on functional activity. A thorough musculoskeletal evaluation involves local examination of all joints and muscles of the body (haemarthroses or hematoma in the muscles, post bleed sequelae such as synovial hypertrophy, muscle fibrosis and tautness) passive joint range of motion, muscle strength and endurance, muscle length (contracture/shortness) and bulk (wasting) assessment, functional assessment including basic and instrumental activities of daily living, play and leisure history, work and productive activity limitation. This is based on 1. Preventive Approach: 2. Accommodative Approach: (Rehabilitation Frame of Reference). 3. Restorative Approach: (Biomechanical Frame of Reference and Rehabilitation Frame of Reference). 1. Preventive Approach: By Activity Promotion and Accident Prevention. a. Patient and Family Education about the condition and genetic counselling. b. Psychological support to the parents, care givers and patient when adult. c. Protection of vulnerable joints in moderate to severe hemophiliacs by means of protective cuffs made of soft fabric and harness, crepe bandage along with plastic moulded orthosis prior to any history of trauma or bleed due to trivial mechanisms, as means of prevention of bleeds. These protective devices are to be worn preferably during activity participation and removed when resting to prevent any secondary wasting of muscles. d. Instructions regarding care of joints and muscles. To avoid any undue torsion, shear and tensile forces to the joints, avoid violent contractions of muscles. Taking care of body and skin by regular inspection for any superficial bruises, cuts etc. Handling daily living items with care to avoid any injury.
  6. 6. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. e. Gentle stretching of two joint muscles for maintaining their flexibility, strengthening all muscles of the body to provide optimum dynamic stability to vulnerable joints thereby preventing occurrence of frequent bleeds in the joints and muscles. f. Patient education on joint protection techniques, energy conservation techniques and work simplification techniques. g. Encouraging patients to get involved in hemophilia patient groups and associations for regular dissemination of knowledge about current treatment options available for hemophiliacs by interacting with medical professionals, for economic help for factor treatment as and when needed in case of bleeds or surgical treatments, vocational offers and a boost to psychological status of the patient. 2. Accommodative Approach: (Rehabilitation Frame of Reference) a. Emphasis on independence despite disability by means of adaptive training and adaptive equipments. Keep the environment safe for hemophiliacs to use. b. Patient education on joint protection techniques, energy conservation techniques and work simplification techniques. c. Psychological support, building patients confidence in self for accomplishments of tasks of daily living, motivating patients for compliance to treatment, giving patients opportunities to prove their worth thereby improving their self-esteem during group sessions in hemophilia patient awareness camps. 3. Restorative Approach: (Biomechanical Frame of Reference and Rehabilitation Frame of Reference) I] Acute Phase: Acute Bleeds: Management based on PRICE Principle for mild bleeds and as an adjunctive treatment for moderate and severe bleeds a. Prevent further bleeds by limiting all motions of the joints and avoid using the joint/muscle in any tasks of daily living. b. Rest: Resting the part of the body in a protective orthosis or splint which is safe and comfortable. The splint should be of adequate length, girth, contoured to fit well on the patients and well-padded to prevent any frictional injury to the body part. c. Icing: Application of Ice packs or gel packs or crushed ice wrapped in a towel helps in controlling further bleeds. Ice should not be in direct contact with the skin. Ice therapy can be continued for at least first 12 hours. d. Compression: Compression bandage used along with a plastic orthosis as soon as the patient is comfortable and the pain is bearable.
  7. 7. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. e. Elevation: Keeping the part of the body above heart level to prevent oedema and aid in venous return, thereby reducing pain. Do No HARM (Heat, Alcohol, Run or Massage) in the acute phase or during acute bleed. The patient needs treatment with factor concentrates, cryoprecipitate or fresh frozen plasma to control the bleed within two hours, if the above treatment does not prove sufficient to stop the bleeding. A haemarthroses that has not responded to factor replacement within 48-72 hours, aspiration will have to be under aseptic precautions and under the cover of factor replacement. The joint should be completely immobilized for one hour after the aspiration. Physical agent modality such as local ultrasound modality is used as an adjunct for the management of pain and swelling of joint and muscles. As soon as tolerable by patient, isometric contractions without resistance can be initiated for all the muscles supporting the joint. (Don’t underestimate the potentials of isometric exercises - prove very useful in acute phase for preventing wasting of muscles and maintenance of strength of muscles to act as dynamic stabilizers of joints, thereby protecting the joints). II] Subacute Phase: a. AAROM and AROM exercises to all the joints including the affected part of the body are initiated once the joint swelling, tenderness, pain, warmth and redness decreases. (Remember - No gain with pain). b. PROM exercises are done by the therapists or by relatives under supervision to avoid any stretch or stress to the joints. Gentle active and passive stretching exercises are introduced as soon as advisable for improving range of motion and preventing contractures. (Be slow and steady). c. The affected part of the body can be involved in light activities of daily living which does not stress the joints and muscles. III] Advanced Phase: a. Light resistive exercises are introduced to improve muscle strength and endurance. Gravity and body weight are used as resistance to start with. These exercises are based on DeLorme’s Progressive Resistive Exercise Principle. Later elastic resistance can be involved by means of Therabands. Free weights should be used cautiously. b. Don’t Forget Proprioception: Proprioception is the process by which the body reacts to changes in joint position. The joint position receptors are located in the joint capsule and can be
  8. 8. Ms. Punita V. Solanki Lecturer (Occupational Therapy). Notes for TYBOTH Students. damaged when the capsule is stretched during bleeds. Failure to restore proprioception will result in the inability of the joint to respond quickly enough to new stresses and are the potential for easy re-injury. c. Advanced Stretching Protocol: to maintain optimal length of the muscles and the soft tissues for re-injury prevention. d. For patients who have significant loss of motion due recurrent bleeds and chronic haemarthroses, correction of contractures can be done by use of skin tractions and corrective orthosis based on parallel force system (3 point pressure principle) e.g. Elbow Guard or Knee Guard Orthosis. These modalities are used as an adjunct to exercise therapy. Continuous Passive Motion machines do help initially for gaining range of motion in the initial post-operative period. Certain orthopaedic procedures may be considered under factor cover if conservative treatment options are not fruitful in gaining functional range of motion. e. For patients with contractures not responding to therapy are amenable to rehabilitation frame of reference for independence in daily living activities by use of adaptive methods and equipments. f. Recreational Activities and Sports: Endurance Sports or Aerobic Training is effective in maintaining the general wellbeing of a patient for e.g. Yoga, Aerobics, Cycling, Swimming etc. g. Vocational Counselling. h. Disability Evaluations: Temporary or Permanent Disability Certificates and Identity cards are useful for economic help from governmental or nongovernmental organizations for education, self-employment and for medical treatment as and when needed in future. They may gain by schemes for National Awards and National Scholarships. i. Public Awareness: In Schools, Work Place and Public Places where patients are likely to visit as a routine.

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