Sickle Cell Disease: Outpatient Management and Complications - PowerPoint PPT Presentation

Sickle Cell Disease: Outpatient Management and Complications

Hilary Suzawa

Baylor Med/Peds

June 16, 2008

• First described 1910
• Ethnic backgrounds:
• Black (African)
• Mediterranean
• Arabian peninsula
• Indian subcontinent
• Caribbean
• South and Central America

• Substitution of a valine for glutamic acid at the sixth amino acid of the beta globin chain
• Produces a hemoglobin tetramer (alpha2/beta S2) that is poorly soluble when deoxygenated

• Hemoglobin SS (SCD-SS)
• Hemoglobin SC (SCD-SC)
• Sickle Beta Thalassemia
• SCD-SB+thal or SCD-SB0 thal
• In US ~2/3 of SCD are SCD-SS
• SCD-SC or Sickle Beta Thalassemia may NOT have significant anemia

• Sickle Cell Disease (SCD-SS)—
• 45 years
• One generation ago average survival was as low as 14 years
• SCD-SC or Sickle Beta Thalassemia—
• 50-60 years

• Amniocentesis if needed
• Genetics evaluation
• High-risk ob if needed
• Maternal mortality <2% and neonatal mortality <5%
• Increased risk of pre-eclampsia, pre-term labor, low-birth weight

• Visit Q2 months (2 wk, 2 mth, 4 mth, 6 mth)
• CBC every visit
• Heptavalent conjugated pneumococcal vaccine (Prevnar) at 2 mth, 4 mth, 6 mth
• PCN VK 125 mg po BID starting at 2-3 mths

• Visit Q3 months (6 mth, 9 mth, 12 mth, 15 mth, 18 mth, 21 mth, 2 yrs)
• CBC every 3-6 mths
• UA annually
• Ferritin or serum iron and TIBC once at 1-2 yrs
• BUN, Cr, LFTS once at age 1-2 yrs
• Prevnar at 15 mths
• Flu vaccine
• Start folic acid daily at 1 year
• Consultation with pedi heme

• Screening with specialized Doppler US transcranial blood-flow velocity (TBV)
• Recommended for asymptomatic children with sickle cell dz beginning at age 2 yrs
• Recommended annually from 2-16 yrs age
• TBV 200 cm/sec or more are at increased risk of stroke

• Visit Q6 months
• CBC at least yearly
• UA at least yearly
• BUN, Cr and LFTs every 1-2 yrs
• 23-valent Pneumococcal vaccine (Pneumovax) at age 2 yrs; booster at age 5 yrs
• Meningococcal vaccine after age 2 yrs
• Flu vaccine annually
• Increase PCN VK to 250 mg po BID at 3 yrs old

• Visits Q6-12 months
• CBC at least yearly
• UA at least yearly
• BUN, Cr and LFTs every 2-3 years
• Flu vaccine yearly
• Consider stop PCN VK
• NOT if pt has had splenectomy OR h/o invasive pneumococcal infxn
• Continue folic acid
• Annual eye exam starting at 10 yrs (focus on retina)

• Decrease in height and weight compared to peers
• During adolescent growth spurt begin to catch up with peers
• Do NOT experience growth failure, only growth delay
• Delayed puberty
• Menarche delayed 2-2.5 years
• Dysmenorrhea may precipitate pain episodes
• Puberty, although delayed, proceeds normally once started

• Visits annually
• CBC yearly
• UA yearly
• BUN, Cr and LFTs every 2-3 years
• Ferritin or serum iron and TIBC at least once
• Flu vaccine yearly
• Transition from pediatric to adult care

• Biannual visit for pt >30 years
• Annual eye exam
• Vaccinations
• Hepatitis vaccine
• Pneumococcal vaccine (Pneumovax)
• Evaluate for elevated BP and pulmonary HTN
• Foot care and protective shoes
• Consider PCN VK prophylaxis
• Folic acid daily to ensure adequate amounts for high erythrocyte turnover
• Consider hydroxyurea

• First dose at 2 years
• If pt <10 years, then give booster at age 3-5 years
• If pt >10 years, then give booster 5 years after first dose
• Support for a one time booster 5 years after first dose; some institutions give Q5 years

• Pt with SCD-SS have lower systolic and diastolic blood pressure compared to others
• Modest increases in BP within the normal range for general population may indicate underlying renal dz

• Monitor for pulmonary hypertension
• Unexplained dyspnea or hypoxemia
• Loud P2
• Enlarged heart (RV) on CXR
• Check Echo

• By age 2 months, start PCN VK 125 mg po BID
• Age 3 years increase dose to PCN VK 250 mg po BID
• Functional asplenia occurs <1 year age in pt with SCD-SS and SCD SB0thal
• SCD-SS patients have usually infarcted their spleens before 4 years
• Can be discontinued after age 5 years except in child who has had splenectomy or invasive infxn

• Increases Hb F levels
• Improves red cell deformability and hydration
• Reduces red cell adhesion to vascular endothelium

• Post-transfusion, Hb level should not exceed 10-11 g/dL
• Check for infection: HIV, Hepatitis panel
• Alloimmunization—in up to 30% of pt who receive frequent transfusions
• Volume overload
• Iron overload
• Use of chelator
• Exchange transfusion

• 2 yo AAM with h/o SCD-SS presents for sick visit.
• On physical exam pt has palpable spleen not previously observed.
• Pt’s baseline Hb ~8 but current Hb ~3
• Reticulocyte count increased from pt’s baseline

• What medical condition do you suspect?
• Acute Splenic Sequestration Crisis: sudden enlargement of spleen, precipitous fall in Hct (at least 2 g/DL), rise in reticulocyte count.
• What is most common age for this to develop?
• Often occurs between 6 months and 3 years
• Hb SS at age <3 years. Variants at any time during childhood.

• What treatment do you recommend?
• Hospitalization
• IVF +- blood transfusion
• After first or second crisis, consider elective splenectomy when child is stable
• Preventive education: Caretaker should know how to palpate for splenic size and know about risk of sequestration crisis

• 17 yo AAF with h/o RAD and SCD-SS was recently hospitalized for a vaso-occlusive pain crisis. Presents 1 week after discharge for hospital follow-up.
• Now c/o minimal bilateral LE pain, chest discomfort, fever (T=100)
• Pulse ox in the office Sat 88% on RA
• Chest X-ray: Normal

• What medical condition do you suspect?
• Acute Chest Syndrome
• Ages birth-9 years
• May be accompanied by or preceded by pain the chest or extremities, fever, respiratory distress and low O2 Sat
• Hypoxemia is not necessary for dx
• CXR may be normal initially with later development of infiltrate
• 30% of all Hb SS pt will have one episode of Acute Chest Syndrome; ½ of these pt will have recurrent episodes
• Asthma increases risk of ACS

• 5 yo AAM with SCD-SS disease presents with a new limp
• What medical conditions would you consider?
• What other information would you like to know?

• DDX
• Osteomyelitis
• Avascular Necrosis of the hip
• Stroke
• Other information:
• H/o HA
• Fever
• Labs: WBC, ESR
• Extremity exam, hip exam
• Neuro exam

• Most common site of AVN
• Femoral head
• Humeral head
• Knee
• Small joints of hands and feet
• Most common orthopedic complication in SCD and occurs in up to 50% of all pt
• SCD is the most common cause of AVN in children

• Stroke occurs in 7-11% of children with SCD
• SCD-SS overall risk of stroke 3.75% throughout lifetime
• <2 yrs have lowest incidence of stroke
• 2-5 years have highest incidence infarctive stroke
• 20-29 years have highest incidence hemorrhagic stroke

• What is the most common cause of osteomyelitis in pt with SCD-SS?
• Salmonella #1, S. aureus #2
• How much does Hb usually drop with aplastic crisis?
• >= 30% reduction from baseline Hb
• What is the most common cause of aplastic crisis?
• Parvovirus B19 causes ~70%

• What are most common bacteria causing infxn in SCD-SS?
• Streptococcus pneumoniae
• Staphylococcus aureus
• Salmonella species
• Haemophilus influenza type b
• Escherichia coli
• Klebsiella species

• Airway/Breathing
• Acute chest syndrome
• Chronic Pulmonary Hypertension
• CNS
• Stroke
• Pain
• Cardiovascular
• Hypertension

• GI
• Cholelithiasis, Choledocholithiasis, Acute Cholecystitis
• Abdominal Pain Crisis
• Sickle Hepatopathy
• Pancreatitis
• Peptic Ulcer Disease
• Hematologic
• Acute splenic sequestration crisis
• Aplastic crisis
• Blood transfusion complications
• GU/Gyn
• Priapism
• Pregnancy Complications, need for Genetic Counseling

• Infection
• Osteomyelitis
• Renal Disease
• Orthopedic
• Aseptic Necrosis of the hip (AVN)
• Chronic Leg Ulcers
• Multiple Organ Failure Syndrome:
• fever, decrease Hb, decrease plt, rhabdomyolysis, mental status changes

• Koshy, M and Dorn, L. “Continuing Care for Adult Patients with Sickle Cell Disease.” Hematology/Oncology Clinics of North America 1996; 10 (6): 1265-1273.
• Lottenberg, R and Hassell, K. “An Evidence-Based Approach to the Treatment of Adults with Sickle Cell Disease.” Hematology 2005; 58-65.
• Mehta, S et al. “Opportunities to Improve Outcomes in Sickle Cell Disease.” American Family Physician 2006; 74 (2): 303-310.

• Redding-Lallinger, R and Knoll, C. “Sickle Cell Disease—Pathophysiology and Treatment.” Curr Probl Pediatr Adolesc Health Care 2006; 36: 346-376.
• Wethers, D. “Sickle Cell Disease in Childhood: Part I. Laboratory Diagnosis, Pathophysiology and Health Maintenance.” American Family Physician 2000; 62 (5): 1013-1020.

• Wethers, D. “Sickle Cell Disease in Childhood: Part II. Diagnosis and Treatment of Major Complications and Recent Advances in Treatment.” American Family Physician 2000; 62 (6): 1309-1314.