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Rare Diseases of the Musculoskeletal System

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Rare Diseases of the Musculoskeletal System Conflict of Interest Rare Diseases of the I hereby certify that, to the best of my Musculoskeletal knowledge, no aspect of my current personal or professional situation might System reasonably be expected to affect significantly my views on the subject on Susan T. Barnett, MSN RN ONC Clinical Manager Orthopedic Program which I am presenting. Parker Adventist Hospital, Parker CO Outcome for this webinar Motivation to Attend? Gain awareness and confidence regarding the rare disease phenomenon for musculoskeletal conditions, Personal Connection with a Disease? including pathophysiology, treatment, nursing care Involved With this Patient Population? planning and nursing roles for selected orthopaedic Seeking those CEU’s? rare diseases. The Strangest Show on Earth? 1 Objectives Rare Disease Day 1. Describe the rare disease phenomenon at a global • Goals: level as it applies to musculoskeletal conditions. – Initiate advocacy http://www.rarediseaseday.org/events/world (NORD) 2. Articulate pathophysiology, treatment and nursing – Encourage national planning and polices for rare care planning and roles for selected orthopaedic rare diseases diseases. – Provide patient/family support and education. Tumoral Calcinosis - A Diagnostic Puzzle Langerhans Cell Histeocytosis - End of Life Supports Osteogenesis Imperfecta - Social Stigma of the Imperfect Child Thalassemia Major – Shrinking US Borders Fibrodysplasia Ossificans Progressiva – Treatments are Triggers Issues Added Confusion • Diversity of Presentation and Symptoms – Disease to disease – Patient to patient • Deficits – Knowledge of disease process – Specialty focus for treatment – Collaboration in health care – Current or pending cures • Diagnosis – Delayed or missed – Pain – Social stigma – Financial burdens 2 Tumoral Calcinosis - A Diagnostic Puzzle Tumoral Calcinosis - A Diagnostic Puzzle • Phosphorous • Phosphorous – High blood levels (above 4.1mg/dL) – High blood levels (above 4.1mg/dL) – Low urine excretion – Low urine excretion • Compensatory mechanism • Compensatory mechanism – Body seeks to retain calcium – Body seeks to retain calcium – Serum values are normal (8.5 – 10.2 mg/dL) – Serum values are normal (8.5 – 10.2 mg/dL) – Calcifications • Familial condition, higher incidence in African descent • Proliferation - first two decades of life • Solitary or multiple painless, peri- • Calcinosis Universalis articular masses • Calcinosis • Multi-lobular, densely calcified Circumscripta masses in the soft tissue at • Calcific Tendonitis extensor surface of the joint, • Synovial bursa area. Osteochondromatosis • Often cystic, white to pale yellow • Synovial Sarcoma calcium hydroxyapatite crystals • Osteosarcoma • Most common hip, elbow, • Myositis Ossificans shoulder, foot, wrist. • Tophaceous Gout • Serum calcium normal, serum phosphate elevated • Calcific Myonecrosis Oral agents to excrete phosphorus • Calcinosis of Chronic • (Used with permission RSNA, Olsen & Chew, 2006) Renal Failure calcifications 12 (Used with permission RSNA, Olsen & Chew, 2006) 3 Footer Text 2/23/2016 13 14 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2655761/figure/F1/ http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2655761/figure/F1/ Diagnosis please… Osteochondroma Myositis Ossificans Tumeral Calcinosis Calcinosis of Chronic Renal Failure Tophaceous Gout http://www.pathologyoutlines.com/caseofweek/case200772clinical1.jpg 16 http://www.pathologyoutlines.com/caseofweek/case200772clinical2.jpg 4 http://www.pathologyoutlines.com/caseofweek/case200772CTscan.jpg http://www.pathologyoutlines.com/caseofweek/case200772xray.jpg 2/23/2016 17 http://pathhsw5m54.ucsf.edu/case19/image195.html http://www.pathologyoutlines.com/caseofweek/case200772CD1a.jpg Poll Does your work place have support systems in place for parents and children who are facing a cancer diagnosis? Yes Birbeck No Body http://pathhsw5m54.ucsf.edu/case19/image195.html 19 5 Osteogenesis Imperfecta Role of the Orthopedic Nurse (imperfect bone formation) • Help diagnose through assessment • Related to a gene mutation that changes production of collagen • Direct to resources • Calcium and nutrition do not play a role • Provide support • Easily fractured bones - few to hundreds in a lifetime – Emotional • Equal incidence in sexes, all racial and ethic groups – 6-7 per 100,000 people worldwide • Play therapy • 25,000-50,000 Americans currently affected • Spiritual care – Wide range due to being a poorly diagnosed disease – Nutritional support and counseling • Discovered in mummy remains from 1000BC • Goal: “As normal as possible” • Classification system developed in 1970’s www.oif.org/site/PageServer?pagename=AOI_Facts Clinical Picture Prognosis • Short stature • Dependent on severity • Weak tissue, skin, • OI can be fatal during birth muscles and joints • Most common causes of death • Free bleeders – Respiratory depression • Low hearing – Trauma • Respiratory illnesses • Kyphosis and scoliosis • Blue sclera 2/23/2016 23 www.nxtbook.com/ygsreprints/HLAA/g33893_hlaa_mayjun2013/#/36 6 Treatments Poll • Supportive – Minimize fractures – surgical reinforcement – Maximize mobility – physical therapy, braces We all know that a nurse must report suspected child – Enhance independence – participate in work and school as possible and adult abuse. If you feel the broken bones are from – Promote health and safety – hearing checks, education, mobility aids Osteogenesis Imperfecta, does that somehow change – Physical activity (Wolff’s Law) your responsibility to report the event? • Pharmacological – Bisphosphonates - Block osteoclast activity Yes, I am allowed to make that choice based on – Forteo - Man-made parathyroid hormone, increases bone density physical assessment. – Growth hormones No, I must allow someone else to make that – Vitamin D determination through the formal investigation. • Research – Gene therapy in development Poll How much of an impact do you see in your practice from our country’s shrinking borders? Are there many international residents in your community? Yes No www.oif.org/site/DocServer?docID=181Text 7 Beta Thalassemia Major Beta Thalassemia Major Footer Text 2/23/2016 30 http://mayaclinic.in/patient -education/wp -content/uploads/2014/05/14.jpg http://mayaclinic.in/patient-education/wp-content/uploads/2014/05/13.png Immigration Trends Impacting Thalassemia (Weatherall, 2012) http://mayaclinic.in/patient-education/wp- content/uploads/2014/05/11.png Treatments • Identify risk (DNA) • Blood replacement • Iron chelation http://mayaclinic.in/patient-education/ wp-content/uploads/2014/05/13.png Figure 1. http://fitsweb.uchc.edu/student/ selectives/mMeyer/new_page_21.htm http://mayaclinic.in/patient-education/thalassemia-in-children/ 8 Fibrodysplasia Ossificans Diagnosis Progressiva (FOP) • Genetic disease manifesting during normal skeletal maturation periods • Gradual ossification of muscle and connective tissue • Bone bridges span normal joint spaces • Originates in the neck and shoulders, proceeds down the body and into limbs www.ifopa.org/fop-fact-sheet.html • Invasive procedures or trauma triggers muscle swelling and myositis • Rapid ossification occurs in the injured area • Viral illness , or childhood immunizations can accelerate the disease • Only several hundred cases reported worldwide • No ethnic, racial or geographic trends http://emedicine.medscape.com/article/1007104-overview http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva Treatments = None Progression Video of interview and patients with FOP: www.youtube.com/watch?v=2IYIaWlgPhQ Shriner’s Hospital for Children, as cited at www.ifopa.org/fop-fact-sheet.html •Ribbons and sheets of bone form www.medscape.com/public/ •Fuses joints of the axial and appendicular skeleton •Entombs the patient in heterotopic bone 9 Final Poll Are you surprised by the variety and range of diseases, and the pivotal role of nursing? Yes, and today’s presentation has helped open my eyes a bit to the large burden of need. 1. Describe the rare disease phenomenon at a global level as it applies to No, as I have been exposed to many of these musculoskeletal conditions. 2. Articulate pathophysiology, treatment, and nursing care planning and roles in other venues. for selected orthopaedic rare diseases. References – Upon Request Blessings on your day…. Thank you so much for your time and dedication to the art and science of orthopaedic care! Susan Personal photo D. Daniels 2016 10 NAON Webinar Rare Disease Day 2015 References International Fibrodysplasia Ossificans Progressiva Association (2015). FOP fact sheet. http://www.ifopa.org/what-is-fop/overview.html Jenison, M., Saeland, S., & Shlomchik, W. (2005, December). Yale University. Langerhans cells regulate immune reactions in the skin. ScienceDaily, 20 . www.sciencedaily.com/releases/2005/12/051220000731.htm Kasper, R. (2013, May/June). Hearing loss – my “secondary” disability. Hearing Loss Magazine, 34(3), p. 36-38. www.nxtbook.com/ygsreprints/HLAA/g33893_hlaa_mayjun2013/#/36 Meyer, M. (nd). Thalassemias. University of Connecticut School of Medicine. http://fitsweb.uchc.edu/student/selectives/mMeyer/new_page_21.htm National Institute of Health (2015). Genetics Home Reference. A Service of the U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition/ National Organization for Rare Diseases (2015). Images and information used with permission from the www.RareDiseaseDay.US website. Olsen, K., Chew F. (2006). Tumoral calcinosis: Pearl, polemics and alternative possibilities. Figures 5a, 5b. RadioGraphics 26,
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