Sickle Cell Champions Improvement Collaborative

Improving Care Through Shared Learning

BMC Ambulatory Pediatrics March 19, 2013 8-9am

Accreditation Information

Boston University School of Medicine is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians.

Boston University School of Medicine designates this live activity for a maximum of 1 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

• Target Audience ▫ Primary care providers (pediatric, family medicine, internal medicine) at Dorchester House MSC, Harvard Street NHC, Mattapan CHC, South Boston CHC and BMC Pediatric Primary Care Clinics and BMC Adult Primary Care Clinics. • Educational Objectives ▫ Identify the ongoing quality improvement initiative and upcoming interventions aimed at improving documentation of and counseling for Sickle Cell Trait ▫ Define the rare but serious health risks of Sickle Cell Trait ▫ Recognize the importance of appropriate documentation of Sickle Cell Trait and counseling for individuals and parents of children with Sickle Cell Trait ▫ Select the appropriate method of documenting Sickle Cell Trait in Logician ▫ Recognize their individual role in improving documentation and counseling practices at their care site

Accreditation Information, Cont.

• Faculty Disclosures Boston University School of Medicine asks all individuals involved in the development and presentation of Continuing Medical Education (CME) activities to disclose all relationships with commercial interests. This information is disclosed to CME activity participants. Boston University School of Medicine has procedures to resolve any apparent conflicts of interest. In addition, faculty members are asked to disclose when any unapproved use of pharmaceuticals and devices is being discussed.

Course Director Philippa Sprinz, MD, MSc

Chief, Pediatric Hematology Boston Medical Center

James Moses, MD, MPH

Director of Patient Safety and Quality Boston Medical Center Assistant Professor Boston University School of Medicine Faculty and activity planners have nothing to disclose with regards to commercial interests.

Faculty do not plan on discussing unlabeled/investigational uses of a commercial product

Patricia Kavanagh, MD

Assistant Professor of Pediatrics Boston University School of Medicine

Accreditation Information, Cont.

DISCLAIMER THESE MATERIALS AND ALL OTHER MATERIALS PROVIDED IN CONJUNCTION WITH CONTINUING MEDICAL EDUCATION ACTIVITIES ARE INTENDED SOLELY FOR PURPOSES OF SUPPLEMENTING CONTINUING MEDICAL EDUCATION PROGRAMS FOR QUALIFIED HEALTH CARE PROFESSIONALS. ANYONE USING THE MATERIALS ASSUMES FULL RESPONSIBILITY AND ALL RISK FOR THEIR APPROPRIATE USE. TRUSTEES OF BOSTON UNIVERSITY MAKES NO WARRANTIES OR REPRESENTATIONS WHATSOEVER REGARDING THE ACCURACY, COMPLETENESS, CURRENTNESS, NONINFRINGEMENT, MERCHANTABILITY OR FITNESS FOR A PARTICULAR PURPOSE OF THE MATERIALS. IN NO EVENT WILL TRUSTEES OF BOSTON UNIVERSITY BE LIABLE TO ANYONE FOR ANY DECISION MADE OR ACTION TAKEN IN RELIANCE ON THE MATERIALS. IN NO EVENT SHOULD THE INFORMATION IN THE MATERIALS BE USED AS A SUBSTITUTE FOR PROFESSIONAL CARE.

Non-Endorsement of Products Continuing Nursing Education Provider Unit, Boston University School of Medicine’s provider status refers only to continuing nursing education activities and does not imply that there is real or implied endorsement by Continuing Nursing Education Provider Unit, Boston University School of Medicine or ANCC of any product, service, or company referred to in this activity nor of any company subsidizing costs related to the activity.

© Trustees of Boston University

• This activity is sponsored by a grant from HRSA

Agenda

1)

Project Background

2)

Sickle Cell Trait Background

3)

EMR documentation of hemoglobinopathies

4)

Sickle Cell Trait Counseling information

5)

Q&A

Members of Collaborative

• • • •

Dorchester CHC Harvard Street NHC Mattapan CHC South Boston CHC

•

BMC Pediatric Primary Care

Dr. Soukaina Adolphe •

BMC Adult Primary Care

Dr. Sheila Chapman

BMC Quality Care Team

Dr. James Moses Director, Pediatric Patient Safety & Quality Dr. Philippa Sprinz Division Director, Pediatric Hematology/Oncology Dr. Trish Kavanagh Sickle Cell Disease Researcher & Pediatric Urgent Care Physician Dr. Bill Adams Director, Clinical Research & Informatics, BU-CTSI and Director Community Health Informatics, Boston HealthNet

Goals of SCDNBS Program

Comprehensive Medical and Psychosocial Care and Community Support across the Lifespan Birth School Age Adolescence Transition Adulthood Co-Managed Pediatric and Adult Primary and Specialty Care

Evidence-Based Primary Care by Trained PCPs IT Decision Support and Patient Tracking Peer Navigators and Volunteers Community-Based Enabling and Support Services Continuous Quality Improvement Age-Appropriate Basic and Formal Genetic Counseling

Community Outreach and Education

Image provided by: http://www.ihi.org/offerings/Initiatives/ghana/Pages/Approach.aspx

HRSA Grant

Goal 1: Establish a system in which PCPs: A.

Provide information on SCD and sickle cell trait to all patients and parents.

B.

Document referral to, and receipt of, genetic counseling at key stages of life.

Objective 3:

A.

Develop electronic prompts for PCPs to document hemoglobinopathy status for all children and recent immigrants/new patients of child-bearing age without NBS results available in the EHR. B.

Provide links to educational materials and referral to genetic counseling for all those with abnormal NBS results.

Testing and Counseling

•

Universal newborn screening in US includes screening for hemoglobinopathies

•

New England Newborn Screening Program screens all babies born in ME, NH, VT, MA, RI

•

Role of PCP in documentation of hemoglobinopathies and carrier status?

•

Role of PCP in informing and counseling individuals and parents of babies with SC Trait?

Sickle Cell Trait

• Approximately 3 million people in the US have Sickle Cell Trait.

(1) • SC Trait is no longer considered a benign carrier status ▫ Emerging evidence indicates an increased risk of rare but serious health concerns related to reversible sickling of red blood cells.

(1) Image provided by: http://learn.genetics.utah.edu/content/disorders/whataregd/sicklecell /

Need for Counseling

• In 2009, the CDC convened with relevant stakeholders to discuss the public health implications of SC Trait and found: (1) ▫ Lack of consistency in the delivery and content of SC Trait health education messages.

▫ Lack of community awareness about SC Trait health risks.

▫ Need for repeated counseling with specific messages delivered at relevant life stages rather than one-time messages from care providers.

• Studies indicate significant lack of knowledge about inheritance, what it means to be an SC Trait carrier and health implications among parents of children with Sickle Cell Disease. (2)

Documentation of Hemoglobinopathies in Logician

• Local assessment at BMC and participating sites found lack of appropriate EMR documentation and missing newborn screen results for many patients • Problem list documentation ▫ Link diagnosis to appropriate ICD-9 code • ICD-9 Codes ▫ 282.5: Sickle Cell Trait ▫ 282.61 : Sickle Cell Disease ▫ 282.63: Sickle C Disease ▫ 282.41: Sickle B+ Thalassemia ▫ 282.68: Sickle Hemoglobin Variant, Sickle Indeterminate ▫ 282.7: Hemoglobin C Disease, Persistence of Fetal Hemoglobin, Hemoglobin C Trait, Hemoglobin Variant Trait, Hemoglobin Bart’s

SC Trait Facts for Parents and Patients

1.

Sickle Cell Trait is inherited from a parent 2.

Sickle Cell Trait will NOT turn into Sickle Cell Disease 3.

Approximately 1 out of 10 African Americans have Sickle Cell Trait 4.

Approximately 1 in 40 Latinos have Sickle Cell Trait 5.

Sickle Cell Trait is found among all races especially persons of African, Caribbean, South and Central American, Greek, Turkish, Italian, Arab, and Asiatic Indian origin 6.

If a baby has Sickle Cell Trait, then one or both parents have Sickle Cell Trait 7.

If both parents have Sickle Cell Trait, then there is a 1 in 4 chance that a child may inherit the genes for Sickle Cell Disease 8.

Parents and family members should ask their doctor for a simple blood test to see if they have Sickle Cell Trait 9.

Clinical problems associated with Sickle Cell Trait are rare. However it is important to understand precautions and health concerns for people with Sickle Cell Trait.

10.

If you are interested in learning more about Sickle Cell Trait ask to make an appointment with a blood doctor (hematologist) or your primary care physician.

•

Explaining Inheritance of SC Trait

Genes are passed from parents to their children and help determine features like eye color, height, and skin color.

• Red blood cells are found in our blood and contain hemoglobin.

• Hemoglobin helps carry oxygen to all of our body parts.

• • Everyone has 2 genes for hemoglobin, one from our mother and one from our father.

Source: Sickle Cell Association of the Peninsula (SCAP) http://www.orgsites.com/va/pasca People with Sickle Cell Disease have inherited one sickle hemoglobin gene from their mother and one sickle hemoglobin gene from their father. • People with Sickle Cell Trait have inherited only one sickle hemoglobin gene and have also inherited one normal hemoglobin gene.

• If a person with Sickle Cell Trait has a baby with another person with Sickle Cell Trait, there is a 1 in 4 chance (25%) that their baby will have Sickle Cell Disease.

Extreme Exercise and Exertional Heat Illness (i.e. military boot camp or extreme training for athletic competition)

Image provided by: http://www.revengeofthebirds.com/2013/1/26/3917714/senior-bowl-2013-open-thread Image provided by: http://www.defense.gov/photoessays /photoessayss.aspx?id=81

Extreme Exercise

• Over 100 competitive athletes in the US die suddenly each year (3)  Mainly from congenital heart defects or underlying coronary disease.

(3,4) • Image provided by: http://bigstory.ap.org/slideshow/north-carolina-begins football A small number of these deaths are caused by exertional heat illness or exertional rhabdomyolosis. (3,5,6)  Over the past decade, all exertional heat illness related deaths reported by NCAA Division 1 Football occurred during conditioning for the game. No deaths have been reported during play or practice. (7)

Extreme Exercise

• •          Signs and symptoms of exertional heat illness include (8) : sweating hypotension tachycardia hyperventilation diarrhea vomiting altered mental status seizures coma Image provided by: http://www.usarmy.com/tag/enlisting-steps/ The risk of death among athletes experiencing exertional heat illness is greater the longer their body temperature is maintained above 41⁰C and is significantly reduced if their body temperature is lowered rapidly. (8)

Extreme Exercise

•  A small number of individuals with SC Trait have experienced exertional heat illness or sudden death during extreme exercise Mostly among army recruits and college athletes (7,9,10,11,12) • 63% of NCAA Division 1 Football deaths have been attributed to SC Trait. (7) •  Military recruits with Sickle Cell Trait were found to have 37.5 fold higher exercise related death rate compared to individuals without HbS. (12,13) Deaths associated with SC Trait have been eliminated in the military by creating strict training regimens for all recruits. (12,13) •    In 2010, in response to a lawsuit, the NCAA enacted controversial legislation requiring all Division I* athletes to: Get tested for SC Trait (14) Or show proof of prior testing (14) Or sign a waiver releasing institution from responsibility (14) * Recently the NCAA enacted mandatory screening for Division II and III college athletes

Extreme Exercise

Information to Share with Patients • Sickle Cell Trait is not a reason to avoid sports or physical activities.

•         All athletes should (15) : Train appropriately by slowly increasing the intensity of exercise Engage in a gradual preseason conditioning regimen Watch for signs of tiredness or muscle pain, and rest when tired Maintain adequate hydration by drinking plenty of liquids while exercising Never get too hot or too cold Learn the signs of exertional heat illness Notify their coach immediately if they believe they are suffering from the effects of extreme exercise ( Seek prompt medical care if experiencing distress

High Altitude and the Spleen

(i.e. Mountain climbing, skiing, flying in a small unpressurized airplane or visiting a city at high altitude) Image provided by: http://www.shorelineaviation.net/news-- events/bid/59783/Get-to-Know-Piper-Aircraft Image provided by: http://www.omnihotels.com/FindAHotel/BedfordSprings/ ResortActivities/OffPropertyActivities/Skiing.aspx

High Altitudes

• Red blood cells can become trapped in the sinusoids of the spleen.

(16) • At very low oxygen levels, red blood cells in individuals with SC Trait may become sickled, leading to vaso occlusion and infarction.

(16) Image provided by: http://www.cbsnews.com/8301-504763_162 57351993-10391704/sickle-cell-trait-sidelines-football-player-what-is-it/ •    Rarely, individuals with Sickle Cell Trait experience injury to the spleen at high altitudes. More common in men and boys (16,17) More common in individuals of non-African ancestry with SC Trait (16,17) • Unclear if Caucasian males are more likely to participate in activities at high altitudes, or are in fact more susceptible to splenic infarction. Usually individuals make an uncomplicated recovery without the need for a splenectomy (18)

High Altitudes

Information to Share with Patients • Sickle Cell Trait is not a reason to avoid traveling, hiking or skiing • Individuals with SC Trait should understand the signs and symptoms of splenic syndrome at high altitudes including: (13) ▫ Pain in the left upper area of the abdomen ▫ Fever ▫ Nausea or vomiting •    If individuals with SC Trait believe they are experiencing splenic syndrome they should: Return to a lower altitude as soon as possible.

Seek emergency medical treatment immediately. Inform ED physicians of SC Trait status to expedite appropriate medical management and avoid splenectomy.

Kidney Damage

• In a study of 188 African American patients on dialysis, the prevalence of SC Trait and Hb C Trait was more than twice that of the general public.

(19) Image provided by: http://www.interactive-biology.com/3254/the-anatomy-of-the-kidney/ • The renal medulla is the place where red blood cells are most likely to sickle in individuals with SC Trait.

(20) ▫ In the renal medulla, oxygen tension is very low, and high osmolality may increase cellular dehydration.

(20) ▫ Sickling cells leads to increased blood viscosity, reduced medullary blood flow and the formation of microthrombi, leading to microinfarction.

(20)

Kidney Damage

• Hematuria ▫ The most common complication of SC Trait.

(20) ▫ Consider common causes such as kidney stones and UTI first.

• Reduced ability to concentrate urine (hyposthenuria) (21,22) ▫ Becomes increasingly more severe with age (21) • Papillary Necrosis ▫ Commonly presents with painless gross hematuria.

(20) • Renal Medullary Carcinoma ▫ An extremely rare and aggressive form of cancer found almost exclusively in young people with SC Trait.

(20) ▫ Commonly presents with severe flank pain, weight loss, abdominal pain and hematuria.

(20)

Kidney Damage

Information to Share with Patients • Individuals should know the risks of kidney damage associated with SC Trait.

• Individuals should notify their primary care physician if they experience blood in the urine not related to a menstrual period. • PCP’s should make a timely referral to a Nephrologist if hematuria persists or if renal medullary carcinoma is suspected •

Due to the extremely rare risk of renal medullary carcinoma and the potential distress this information may cause parents and patients, we do not advise including the risk of cancer in PCP Sickle Cell Trait counseling at this time

Eye Damage

• Complicated Hyphema (probable association) (23) ▫ Traumatic hyphema complicated by: (23)   increased intraocular pressure secondary hemorrhage   central retinal atery occulsion optic nerve atrophy.

▫ Complications often out of proportion to size of the hyphema (23) • Proliferative Retinopathy (possible association ) (23) ▫ A number of isolated cases reported among individuals with SC Trait (23) ▫ Most of the reported retinopathy cases in individuals with SC Trait had other underlying risk factors (hypertension, diabetes, ocular trauma) (23) •

Currently not enough evidence to include eye damage in PCP SC Trait counseling

•

Other Potential Health Concerns Requiring More Research

Probable Associations (23) ▫ Deep vein thrombosis or pulmonary embolism ▫ Pregnancy complications (fetal loss, low birthweight, eclampsia) • Possible Associations (23) ▫ Acute chest syndrome ▫ Asymptomatic bacteriuria in pregnancy • Unlikely or Unproven Associations (23) ▫ Stroke ▫ Cholelithiasis ▫ Priapism ▫ Leg ulcers ▫ Avascular necrosis of the femoral head • According to the CDC there are potential health risks associated with increased atmospheric pressure i.e. SCUBA diving- evidence is very limited

Additional Support Provided by this Initiative

•

Printed counseling materials for patients and families.

•

Logician reminder prompts for providers at distinct counseling touch points.

•

Patient registry and newborn screen result tracking tools.

•

Referral information for genetic testing and additional counseling with BMC hematology.

•

Hemoglobinopathy screening algorithm

Q&A Do you have any questions?

Final Thoughts?

Thank you!

Additional Resources

• New England Newborn Screening Program ▫ Fax for missing results and call for questions   Phone number: (617) 983-6300 Fax number: (617) 522-2846 • Colorado Sickle Cell Treatment and Research Center Provider Training Modules ▫ To learn more about Hemoglobin Electrophoresis and SC Trait  http://www.coloradosicklecellcenter.org/SickleCellTraitCourse/module1/inde x.htm • Centers for Disease Control and Prevention ▫ Additional information for patients  http://www.cdc.gov/ncbddd/sicklecell/documents/SCD%20factsheet_Sickle% 20Cell%20Trait.pdf

• National College Athletic Association ▫ Additional information for athletes  http://fs.ncaa.org/Docs/health_safety/SickleCellTraitforSA.pdf

1)

Citations

2) 3) 4) 5) 6) 7) 8) 9) 10) 11) 12) Grant AM, Parker CS, Jordan LB, et al. Public health implications of sickle cell trait: a report of the CDC meeting. Am J Prev Med. 2011 Dec;41(6 Suppl 4):S435-9. Acharya K, Lang CW, Ross LF. A pilot study to explore knowledge, attitudes, and beliefs about sickle cell trait and disease. J Natl Med Assoc. 2009 Nov;101(11):1163-72.

Maron B, Doerer J, Haas T, et al. Sudden Deaths in Young Competitive Athletes: Analysis of 1866 Deaths in the United States, 1980-2006. Circulation 119:1085, 2009.

Ferreira M, Santo-Silva P, de Abreu L, et al. Sudden cardiac death athletes: a systematic review. Sports Med Arthosc Rehabil Ther Technol 2:19, 2010.

Howe A and Boden B. Heat-related illness in athletes. Am J Sports Med 35:1384, 2007.

Patel DR, Gyamfi R, Torres A. Exertional rhabdomyolysis and acute kidney injury. Phys Sportsmed 37:71, 2009.

Eichner ER. Sickle cell trait in sports. Curr Sports Med Rep9:347, 2010.

Binkley HM, Beckett J, Casa DJ, et al. National Athletic Trainers’ Association Position Statement: Exertional Heat Illnesses. J Athl Train. 2002 Sep;37(3):329-343.

Ferster K, Eichner ER. Exertional sickling deaths in Army recruits with sickle cell trait. Mil Med. 2012 Jan;177(1):56-9.

Anzalone ML, et al. Sickle cell trait and fatal rhabdomyolysis in football training: a case study. Med Sci Sports Exerc 42:3, 2010.

Scheinin L, Wetli CV. Sudden death and sickle cell trait: medicolegal considerations and implications. Am J Forensic Med Pathol 30:204, 2009.

Kark JA, Posey DM, Schumacher HR, Ruehle CJ. Sickle-cell trait as a risk factor for sudden death in physical training. N Engl J Med. 1987 Sep 24;317(13):781-7.

Citations Continued

13) 14) 15) 16) 17) 18) 19) 20) 21) 22) 23) Kark J, et al. Prevention of Exercise-Related Death Unexplained by Preexisting Disease (EDU) Associated with Sickle Cell Trait (SCT) without Hemoglobin (Hb) Screening or Hb Specific Management. Oral Presentation, American Society of Hematology Annual Meeting, 2010.

Hosick MB. “DI Board to consider adding legislation to eliminate sickle cell opt-out.” National College Athletic Association. 20 Oct 2010. 1 Feb 2013. NCAA. “A Fact Sheet for Student Athletes: Sickle Cell Trait.” http://fs.ncaa.org/Docs/ health_safety/SickleCellTraitforSA.pdf. 1 Feb 2013. Lane P, Githens J. Splenic syndrome at mountain altitudes in sickle cell trait. Its occurrence in nonblack persons. JAMA253:2251, 1985.

Goldberg N, et al. Altitude-related splenic infarction in sickle cell trait-case reports of a father and son. West J Med 143:670, 1985.

Sheikha A. Splenic syndrome in the patients at high altitude with unrecognized sickle cell trait: splenectomy is often unnecessary. Can J Surg 48:377, 2009 Derebail VK, Nachman PH, Key NS et al. High prevalence of sickle cell trait in African Americans with ESRD. J Am Soc Nephrol. 2010 Mar;21(3):413-7.

Kiryluk K, et al. Sickle cell trait and gross hematuria. Kidney Int 71:706, 2007.

Schlitt L and Keitel HG. Pathogenesis of hypothesnuria in persons with sickle cell anemia or the sickle cell trait. Pediatrics26:249, 1960.

Gupta AK, et al. Effects of alpha-thalassemia and sickle polymerization tendency on the urine concentrating defect of individuals with sickle cell trait. J Clin Invest 88:1963, 1991.

Tsaras G, Owusu-Ansah A, Boateng FO, et al. Complications associated with sickle cell trait: a brief narrative review. Am J Med. 2009 Jun;122(6):507-12.