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

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

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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, 871-885.

Osteogenesis Imperfecta: A guide for nurses. Osteogenesis imperfecta. Photographs/diseases.

Retrieved September 2, 2015 from

http://medgen.genetics.utah.edu/photographs/diseases/

Osteogenesis Imperfecta Foundation (2015). Unbreakable spirit. Facts about Osteogenesis

Imperfecta. www.oif.org/site/PageServer?pagename=AOI_Facts

NAON Webinar Rare Disease Day 2015

Osteogenesis Imperfecta Foundation (2003). Osteogenesis imperfecta: A guide for nurses.

http://www.oif.org/site/DocServer?docID=181Text

Picoult, J. (2009). Handle with care: A novel. Simon & Schuster, Inc. ISBN: 9780340979013

Pignolo, R., Jung, L. (2013). Pediatric fibrodysplasia ossificans progressive. Medscape Reference:

Drugs, Diseases & Procedures. http://emedicine.medscape.com/article/1007104-

overview

Suarez, A. (2007, January). Case of the week #72. Images used with permission of Pernick, N.

(2015). PathologyOutlines.com,

http://www.pathologyoutlines.com/caseofweek/case200772.htm

U.S. National Library of Medicine (2015). Genetics Home Reference: Beta thalassemia.

http://ghr.nlm.nih.gov/condition/beta-thalassemia

U.S. National Library of Medicine (2007). Genetics Home Reference: Fibrodysplasia ossificans

progressive. http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva

U.S. National Library of Medicine (2012). Genetics Home Reference: Hyperphosphatemic familial

tumoral calcinosis.

http://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis

U.S. National Library of Medicine (2013). Genetics Home Reference: Osteogenesis imperfecta.

http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta

Varma, R. (2015) Thalassemia in children. Maya Clinic website: Vaishali, India.

http://mayaclinic.in/patient-education NAON Webinar Rare Disease Day 2015

Weatherall, D. (2012). General epidemiological facts about haemoglobinopathies and beta

thalassaemia. http://www.thalassaemia.org.cy/about-haemoglobin-disorders/beta-

thalassaemia/epidemiology.shtml

Yamada, S., Taniguchi, M., Tokumoto, M., Tsuruya, K., & Iida, M. (2009). Osteoclast-like multi-

nucleated giant cells in uraemic tumoral calcinosis. NDT Plus, 2(2), 155–157.

doi:10.1093/ndtplus/sfp010Notes for webinar: Feb 28, 2016

A Message for Nurses Have you seen toes like these?

They may indicate the presence of Fibrodysplasia Ossificans Progressiva (FOP)

Tumor-Like Malformed FOP Great Toes Masses

FOP is a rare genetic disease that causes muscles, tendons and ligaments to turn into bone, progressively restrict- ing mobility. Trauma (including IM injections, biopsies and surgery) accelerates the bone formation and should be avoided. In FOP, the malformations of the great toes are present at birth. Almost all persons with FOP are initially given incorrect diagnoses, and many suffer permanent harm from inappropriate medical interventions.

Tumor-like masses develop in individuals with FOP. Ini- tially, they occur on the back, neck or shoulders. The masses appear rapidly, often overnight, and most often first occur between the ages of 2 and 5 years. The picture to the right shows a young girl with FOP who has several such masses.

The presence of malformed great toes in combination with tumor-like masses is highly suggestive of FOP.

If you are aware of an infant or child who has both malformations of the great toes and tumor-like masses, please contact: The Center for Research in FOP and Related Disorders The University of Pennsylvania School of Medicine Dr. Frederick Kaplan [email protected] Dr. Robert Pignolo [email protected] www.ifopa.org Phone: 215.294.9145 407.365.4194