provide comprehensive care at CHAM Kerry Morrone, MD Director of - PowerPoint PPT Presentation

Sickle Cell Anemia -striving to provide comprehensive care at CHAM Kerry Morrone, MD Director of the Pediatric Sickle Cell Program 11-2-16 montekids.org

Objectives • Demonstrate how to interpret a hemoglobin electrophoresis • Update on treatment guidelines from the NHLBI • Review vaccination guidelines • Overview on special considerations in prescribing medications or performing surgical procedures in sickle cell disease • montekids.org

Sickle Cell Disease: A Public Health Problem Prevalence in U.S 90-100,000 Incidence in Africa 200,000 infants/year montekids.org

Hemoglobin Structure montekids.org

Pathophysiology of vaso-occulsion Stuart . 2014 Lancet montekids.org

Name Genotype Percent Homozygous SS  S -  S 65 ( Sickle Cell Anemia ) Heterozygous SC  S -  C 24 (Hb SC Disease) Heterozygous S-  +  S -  + thal 7 thal Heterozygous S-  °  S -  ° 3 thal thal montekids.org

Mortality in sickle cell disease-more to be done montekids.org

Perspectives from a clinical case • Two siblings present with their parents to clinic after recently immigrating from Liberia. • They think their children may have a blood disorder, but are unsure. • Fareed the 10 year old child had to be hospitalized several times for infection and gets pain intermittently • Kadida is 2 years old and has not had any complications montekids.org

How would you test this family? What are the methods to screen for sickle cell trait/disease? • As of 2006 all 50 states now require new born screen testing for sickle cell disease • Best screening methods: hemoglobin electrophoresis, HPLC, isoelectric focusing • Sickle cell solubility test has many potential errors • NCAA offers testing of all athletes in Divisions I-III • 16 % of individuals and 37 % of parents of children tested are aware of their sickle cell carrier status Treadwell et al. J Nat Med Assoc . 2006 Naik and Haywood. 2015. Ash Education Program montekids.org

Perspectives from a clinical case • Fareed’s labs: • Kadida’s labs: • • 15>7/24<550 5>12/36<300 • • MCV: 75 MCV: 75 • • Retic: 10 Retic: 1 • • LDH: 400 LDH: 200 • • TB/DB: 2.5/.4 TB/DB: .4/.2 • • Hemoglobin electrophoresis: Hemoglobin electrophoresis: • • S%: 90 A2%: 3 F%: 7 S%: 25 A%: 65 A2%: 3 F%: 7 What do you inform this family? montekids.org

Perspectives from a clinical case • The family is informed that Fareed has SS disease and that Kadida has sickle trait . • The family wants to discuss the risk factors for Kadida and want to know what does the literature say? montekids.org

Are there additional risks of having sickle cell trait ? • No systematic review of complications • Exertional related injury documented in retrospective reports • NEJM- 2016 not increased • Chronic kidney disease and albuminuira – 1.57 OR (CI 1.34-1.84) Naik et al. 2014 JAMA Kark JA et al. 1987 NEJM Harmon KG et al. 2012 Br J Sports montekids.org

Another common scenario … • Destiny is a 2 month old born in Florida whose family has moved to the Bronx this week and mom wants to establish care • Mom knows there is sikcle cell trait in her family and missed her follow up appointment to go over newborn screen results. She asks for her daughter to be tested montekids.org

Another common scenario … • 10>12<350 MCV: 75 retic: 1.5 • Hemoglobin electrophoresis: S-20 % F->40% A2:5% • Does this patient have sickle cell disease or trait? • Do they need any additional follow up or treatments ? montekids.org

Another common scenario … • This patient has sickle cell disease and should be started on penicillin prophylaxis and referred to a hematologist • Fetal hemoglobin is elevated in the newborn period • In sickle cell disease the level of fetal hemoglobin is not stabilized even up until 5 years old montekids.org

30 years later from the landmark prophylaxis study … montekids.org

Vaccination recommendations Steinberg. 2015 BJH montekids.org

What is the rate of infection post vaccination era? • Post vaccine rate of bacteremia: .8 % in setting of febrile episodes • Presence of a central venous line, band count, clinical appearance and age helped to predict bacteremia • Patients still require a blood culture, broad spectrum antibiotics and ability to have close follow up Chang et al. 2013 montekids.org

What does the CDC suggest for meningococcal vaccinations? • New updates for children with anatomic or functional asplenia (including sickle cell disease): • Can start vaccinating at 2 months old with Menveo or Menhibirix • If start vaccinating at 2 months then should receive vaccines at 2,4, 6 and 12 months • Catch up vaccine schedule • Menactra can be used in over 2 years of age montekids.org

At 430 pm on a Friday afternoon • Jose and his mother present to the Adolescent doctor for his routine visit • He is noted to be tachypneic and febrile to 102 • He states he was febrile this morning but felt better after motrin. • Besides the tachypnea he is very well appearing and states he wants to go home.. • What do you do ? montekids.org

NHLBI guidlelines for fever montekids.org

Hydroxyurea- who , when and why ? • Jose is seen in the emergency room and as the resident is doing medication reconciliation they notice he is on hydroxyurea • On further questioning Jose states he has had very few crises and very minimal complications • The family states his hematologist suggested he be on it for his general health • Is there an indication to do that? montekids.org

 Randomized phase III trial  9-18 months  N=193  18 month follow up  Excellent safety profile  Decreased pain crisis  Decreased dactylitis  Improved hemoglobin  Decreased inpatient hospitalization costs Wang Pediatrics 2013 montekids.org

< 5 yrs 5 <10yrs Never 10 <15yrs Death Stroke Renal Disease >15yrs Hepatic disease Sepsis/Infection montekids.org

NHLBI 2014 Guidelines: Hydroxyurea **** montekids.org

Surgical considerations • Jose tells you he is also upset because he is supposed to have surgery tomorrow to help with his snoring • He is afraid his fever will prevent him from getting the surgery • After checking his labs his hemoglobin returns at 8 , retic: 10 • If he is feeling better should be just go to the ambulatory suite tomorrow to remove his tonsils? montekids.org

What are common surgeries or procedures for patients with sickle cell anemia? • Tonsillectomy & adenoidectomy • Cholecystectomy • Orthopedic procedures (core decompression of hip) • Splenectomy montekids.org

Procedural/Surgical Preparations for Sickle Cell Disease montekids.org

Procedure/Surgical Preparation • Refer to your patient’s hematologist • Blood work is done and patients are optimized by blood transfusions and/or IVF • Patients typically admitted the night prior to surgery or procedure if it requires sedation • Medical clearance should be provided by hematologist montekids.org

By request: special considerations • No estrogen containing contraception • Steriods- to be used judiciously and tapered for risk of VOC and ACS rebound • Headache restrictions (triptans) Whitley- ASH education book montekids.org

Objectives • Demonstrate how to interpret a hemoglobin electrophoresis • Update on treatment guidelines from the NHLBI • Review vaccination guidelines • Overview on special considerations in prescribing medications or performing surgical procedures in sickle cell disease montekids.org

CHAM Pediatric Hematology team montekids.org