The Student Athlete with The Student Athlete with Sickle Cell Disease / Trait Sickle Cell Disease / Trait

Sports Injury Symposium 2014Sports Injury Symposium 2014

Cynthia Gauger, MDCynthia Gauger, MD

What is Sickle Cell What is Sickle Cell Disease?Disease?

The Sickle MutationThe Sickle MutationMost common genetic disorder in No Am – Hb Most common genetic disorder in No Am – Hb S S ••single amino acid substitutionsingle amino acid substitution

••alters the structure of alters the structure of oxygen carrying hgboxygen carrying hgb •• deoxygenated deoxygenated sickle hgb polymerizessickle hgb polymerizes •• red blood red blood cells become distorted into the sickle shapecells become distorted into the sickle shapeSickle-shaped red cells interrupt blood flow Sickle-shaped red cells interrupt blood flow by blocking small blood vesselsby blocking small blood vesselsThe result is a chronic hemolytic anemia and The result is a chronic hemolytic anemia and painful vaso-occlusive crisespainful vaso-occlusive crisesMay lead to ischemic tissue injury and May lead to ischemic tissue injury and significant end-organ damagesignificant end-organ damage

Blood flow of normal and sickle Blood flow of normal and sickle red blood cellsred blood cells

Sports Participation in Sports Participation in Adolescents with SS DiseaseAdolescents with SS Disease

Adolescents should be encouraged to participate in exercise Exercise tolerance greatly depends on the severity of the anemiaIndividuals with SS will transition to anaerobic metabolism more quickly results in lactic acidosis and muscle cramping, heat exhaustion or heat strokeHigh risk of VOC pain crisisExercising too hard on the hips – AVNIf the patient has a large spleen – contact sports would carry a risk of splenic rupture

Sports Participation in Sports Participation in Adolescents with SS DiseaseAdolescents with SS Disease

Individuals with SSD should avoid extreme Individuals with SSD should avoid extreme endurance sports such as long distance endurance sports such as long distance competitive racing, football, etc which competitive racing, football, etc which push the body to exhaustion/dehydrationpush the body to exhaustion/dehydration

Avoid sports that involve cold temp or low Avoid sports that involve cold temp or low oxygen concentration that will trigger VOC oxygen concentration that will trigger VOC painpain

Avoid repetitive jumpingAvoid repetitive jumping

Sickle cell Trait (SCT)Sickle cell Trait (SCT)

Inheritance of one gene for normal hgb A Inheritance of one gene for normal hgb A and one gene for sickle hemoglobin and one gene for sickle hemoglobin Estimated that up to 3 million Americans Estimated that up to 3 million Americans have SCT have SCT Trait will not turn into disease, nor will it go Trait will not turn into disease, nor will it go awayawaySCT is not associated with anemiaSCT is not associated with anemiaNo data to suggest that SCT is associated No data to suggest that SCT is associated with painful events or criseswith painful events or crisesSCT does not appear to limit performance SCT does not appear to limit performance among elite athletes in many sportsamong elite athletes in many sports

Sickle cell TraitSickle cell TraitMost people with SCT will live normal life spans Most people with SCT will live normal life spans with no adverse health events related to sickle with no adverse health events related to sickle cell, however complications have occurred:cell, however complications have occurred:Gross Hematuria and renal IssuesGross Hematuria and renal IssuesSplenic InfarctionSplenic InfarctionHyphemaHyphemaSCT is an uncommon but established risk factor SCT is an uncommon but established risk factor for exercise –related Rhabdomyolysis and for exercise –related Rhabdomyolysis and sudden death. Absolute risk in not known.sudden death. Absolute risk in not known.

Exercise Collapse associated with Sickle Trait Exercise Collapse associated with Sickle Trait ‘ ECAST ‘‘ ECAST ‘

Renal IssuesRenal IssuesGross hematuriaGross hematuria

• • massive often recurrent bleedingmassive often recurrent bleeding•• 3 – 4:1 ratio from left kidney 3 – 4:1 ratio from left kidney•• thought to be secondary to renal thought to be secondary to renal

papillary necrosispapillary necrosis •• Treatment: hydration, alkalinization, Treatment: hydration, alkalinization, observationobservationHyposthenuria – impaired concentrating Hyposthenuria – impaired concentrating abilityabilityCause? Relative hypertonia, acidosis, Cause? Relative hypertonia, acidosis, hypoxia of renal medulla predisposing to hypoxia of renal medulla predisposing to “sickling”“sickling”

Splenic InfarctionSplenic Infarction

Can occur in AS, Can occur in AS, typically at altitudetypically at altitudeTypically causes LUQ pain, often with N/V Typically causes LUQ pain, often with N/V and splenomegalyand splenomegalyThe risk may begin at 5,000 feet and The risk may begin at 5,000 feet and increases with increasing altitudeincreases with increasing altitudeThe lower oxygen environment predisposes The lower oxygen environment predisposes to intravascular polymerization of sickle to intravascular polymerization of sickle hgbhgbVigorous exercise may increase the riskVigorous exercise may increase the riskRacial predisposition: higher average Racial predisposition: higher average percentage of Hgb S in caucasians vs AApercentage of Hgb S in caucasians vs AA

Exertional RhabdomyolysisExertional Rhabdomyolysis

ER is an acute clinical syndrome caused by the breakdown of striated skeletal muscle due to metabolic derangement or physical injury. RM can lead to myoglobinuria, and life threatening complications such as acute kidney injury, DIC, hyperkalemia, cardiac dysrhythmias, and other severe metabolic derangementsCertain forms of high intensity repetitive exercises and low baseline fitness are common factors in many reports.

Exertional RhabdomyolysisExertional Rhabdomyolysis

During exercise, SCT appears to be a risk factor for sudden death and /or rhabdomyolysis, particularly when the exercise is intense, occurs in suboptimally conditioned individuals, is performed at high altitude, and especially when the subject is dehydrated or hyperthermic.

NCAA and SCT NCAA and SCT During a 5-year period from 2004-2008 in which During a 5-year period from 2004-2008 in which athletes logged nearly 2 million participant-athletes logged nearly 2 million participant-years, 273 deaths reported by the NCAAyears, 273 deaths reported by the NCAA

5 of these deaths occurred in athletes with SCT; 5 of these deaths occurred in athletes with SCT; all occurred in black football players during all occurred in black football players during practicing and conditioning drillspracticing and conditioning drills

The relative risk of exertional death with SCT The relative risk of exertional death with SCT was 1: 805, 22 x greater compared with was 1: 805, 22 x greater compared with athletes without SCT athletes without SCT

In April 2010, the NCAA adopted a policy In April 2010, the NCAA adopted a policy requiring Division I institutions to perform requiring Division I institutions to perform testing for SCT on all incoming student athletestesting for SCT on all incoming student athletes

Recognizing ECASTRecognizing ECASTA sickling collapse is a medical emergencyClinical manifestations include severe pain, muscle tenderness or swelling, dark urine (myoglobinuria) and serum creatine kinase (CK) elevationsThe athlete is typically experiencing major lactic acidosis, impending shock, and imminent hyperkalemia from sudden rhabdomyolysisSuccessful treatment includes early detection addressing the underlying cause, measures to prevent renal failure, and correction of metabolic derangements.

ECAST – Medical Emergency !!ECAST – Medical Emergency !!

Check vital signsAdminister high-flow oxygen, 15 lpm with a non-rebreather face maskCool the athlete if necessaryIf the athlete is obtunded or as vital signs decline, call 911, attach an AED, start an IV, and get the athlete to the hospitalTell the doctors to expect explosive rhabdomyolysis and the metabolic complications

ECAST – Medical Emergency ECAST – Medical Emergency !!!!

One critical step is the establishment One critical step is the establishment of a communication plan for of a communication plan for emergency services with a receiving emergency services with a receiving facility that has the capacity to facility that has the capacity to evaluate and effectively treat rapidly evaluate and effectively treat rapidly progressive metabolic derangements progressive metabolic derangements and organ dysfunction.and organ dysfunction.

Sickle TraitSickle TraitEducation and precautionsEducation and precautions

Set their own pace

Slow and gradual preseason conditioning regimen

Adequate rest and recovery between repetitions

Do not urge all out exertion beyond 2 to 3 minutes without a breather

Stop activity immediately if struggling

Exclude performance tests Exclude performance tests such as mile runs, serial such as mile runs, serial sprintssprintsStay well hydrated at all Stay well hydrated at all timestimesMaintain proper asthma Maintain proper asthma managementmanagementRefrain from extreme Refrain from extreme exercise during acute exercise during acute illness, if febrileillness, if febrileAccess supplemental OAccess supplemental O22 at at altitude as neededaltitude as neededSeek prompt medical care if Seek prompt medical care if experiencing unusual experiencing unusual distressdistress

Sickle cell Trait: Conclusions

Sickle cell trait is commonSCT is usually a benign condition but… may be associated with renal, splenic, ocular, problems and a risk of vascular collapse with extreme exercise particularly in association with heat, altitude, hypoxia, and dehydration.None of the clinical consequences of SCT are frequent or predictableASH: endorses the implementation of universal guidelines to reduce exertion-related injuries and deaths

Sickle cell Trait and the AthleteSickle cell Trait and the Athlete

www.NCAA.org/health-safety

The Student Athlete with Sickle Cell Trait The Student Athlete with Sickle Cell Trait Educational MaterialsEducational Materials

•• Fact Sheet for the Student AthleteFact Sheet for the Student Athlete

• • Fact Sheet for CoachesFact Sheet for Coaches• • The Student Athlete with Sickle cell The Student Athlete with Sickle cell Trait - Video Trait - Video