Sickle Cell

Morning Report
Liz Parsons, MD
Case Presentation
HPI: 2 year old Sudanese boy presents to the emergency HPI: department after having a 2 day history of fever, rash, abdominal pain, and 2-3 episodes of non-bloody, nonbilious vomiting. His parents brought him to the emergency department because he continues to worsen, is lethargic, and very pale. Prior to this episode, he was feeling well. They recently moved to the United States two months ago and are living in a refugee home.
Case Presentation
PMH: Born full term without complications. Healthy, without prior hospitalizations or surgeries. Entrance testing (TB, etc) was negative. FH: Notable for maternal cousin who died at a young age from infection. Otherwise, no known inherited familial conditions. Imm: Up to date including flu vaccine
SH: Parents from Sudan and recently immigrated to the US 2 months ago. He has a 3 month old brother. No pets. No smokers. No known sick contacts. No daycare. Father is looking for work.
Physical Exam:
HT: 90 cm (90%) WT: 12.5 kg (53%) T: 39.1 HR: 155 BP 97/58 sat: 98% RA GEN: Thin, young boy lying in bed, appears ill and pale. HEENT: Normocephalic. Significant conjunctival pallor. Moderate scleral icterus. Dry MM. TM clear without effusion. CV: Tachycardic. Normal S1, S2. 2/6 SEM heard best at LUSB PULM: Good air entry with clear lungs bilaterally. ABD: soft. Mildly distended. Liver is at RCM. Spleen is 5 cm below LCM and tender to palpation. EXT: Cap refill delayed at 3-4 seconds. No edema. NEURO: Tired and ill, but no focal deficits. Cries and responsive to parents SKIN: Diffuse light pink rash on abdomen, back, and cheeks bilaterally.
Differential Diagnosis
Heme/Onc: Hereditary Spherocytosis Sickle Cell Anemia B-Thalassemia Pyruvate Kinase Defeciency Aplastic Anemia Diamond-Blackfan Syndrome Iron deficiency Malignancy Infection: Meningitis Sepsis Viral infection (EBV, parovirus) HIV GI: Acute Liver Failure Cholecystitis Cholangitis
LABS:
WBC 4.5 (7%B, 29%P, 60%L, 3%M, 1% E) Hgb: 4 g/dL HCT 12% MCV: 61 Plt 439 Reticulocyte count 0.09% PT/INR normal Blood culture UA: WBC 1,RBC 3, 1+ prot, 2+ ketone, Nit neg, LE neg, Bac Neg CMP: Na 142, K 3.7 , Cl 108, HCO3 21, BUN 17, Cr 0.32 Glc 107, T. bili 3.4, ALT 39, AST 92 VRP: Negative
Diagnostic Studies
CXR: Increased peribronchial thickening c/w viral airway disease KUB: Non-obstructive bowel gas pattern. No intraperitoneal air.
Diagnosis?
Aplastic Crisis Parvovirus B19 Sickle Cell Anemia
Sickle Cell Disease

Guidelines for acute management and preventive care
Overview

Chronic hemolytic anemia Most common inherited blood disorder Gene present in 8% of black Americans 70,000+ Americans affected African descent, Mediterranean, Middle Eastern, South American, and Caribbean populations. Male to female 1:1 Trait provides resistance to P. falciparum
Overview
> 83,000 admissions/yr (25% children) Costs 488 million/yr Life expectancy: median 45 years 1973: median survival = 14.3 years
HbS Mutation
A T mutation
HbS
Hemoglobin
Diagnosis

Newborn screen in all 50 states, D.C., Puerto Rico, and Virgin Islands. Most patients asymptomatic in first 3-6 months due to persistence of fetal hemoglobin If not on newborn screen, rapid diagnosis and early preventive care is crucial Family History Important!
Dactylitis/ Hand-Foot Syndrome
Moth Eaten Appearance
Acute Splenic Sequestration
Acute Splenic Sequestration

Sudden pooling of blood in the spleen Anemia may be life threatening 10 27 months of age (older pts autoinfarct) Up to 50% of RBC can be in spleen Worrisome for concurrent bacterial infection Circulatory compromise = hypovolemic shock
Diagnosis (ASS)

Hgb decreases 2g/dL below baseline Acutely enlarged spleen Leukopenia Reticulocytosis +/- thrombocytopenia (<100,000) Hgb drop > 4g/dL has mortality rate up to 35% Tx: HDS, fluid, PRBCs, surgical resection of spleen to prevent recurrence
Infection

Patients have functional asplenia by 6 yrs of age High risk for encapsulated organisms 400 fold increased risk of S. pneumoniae #1 cause of early mortality (< 5 yo) Neisseria meningitidis, Haemophilus influenzae Osteomyelitis (Salmonella, Staph aureus)
Aplastic Crises
Parvovirus B19 or folate deficiency Acute decrease in Hgb and retic ( < 1%) Can lead to Heart Failure Tx: transfusion , Isolation (PB19)
Acute Pain Episode

Due to vaso-occlusion Precipitated by cold, dehydration, infection, stress, alcohol, menses, unknown Back, chest, abdomen, extremities Associated sx: fever, tachycardia, tachypnea, hypertension, nausea, vomiting Labs: decreased Hgb, elevated acute phase reactants, LDH, TNF, IL-1
VOC Pain Crisis

34% of pts have < 1 pain crisis/yr > 6 hospitalizations/yr = early death Tx: Pain control, hydration, physical therapy, psychosocial support Avg hospital stay ~ 4 days Chronic pain big issue- recurrent damage from sickling, opioid tolerance
Treatment of Sickle Crisis

R/O other causes, infection Home management: codeine, NSAIDS, heating pads Hospital: IV/PO rehydration, opioids (morphine, dilaudid, PCA), Toradol O2 if hypoxemic, Incentive Spirometry
Avascular Necrosis
Worst pain I've ever experienced Bone infarcts/necrosis best detected by MRI May lead to pulmonary fat embolism 30% of patients have hip pathology by 30 years If < 12, can treat with NSAIDS, protected wt bearing If > 12 , often need surgery, develop arthritis
Acute Chest Syndrome

Characterized by NEW infiltrate on CXR Lower respiratory tract symptoms (cough, sputum, fever) and hypoxemia More common in adolescents and adults Causes: infection (mycoplasma, chlamydia), general anesthesia, pulmonary infarction, fat embolism (bone infarction) Can progress to respiratory failure, pneumonia, pulmonary embolism, ARDS, and death
Treatment

Prompt recognition Fluids Analgesics Antibiotics Exchange transfusion if severe Imaging if needed to rule out DVT
Priapism
Prolonged painful erection Usually occurs during early morning hours 2 forms: recurrent lasting 2-4 hours OR severe episodes longer than 2-4 hours Can lead to impotence May require irrigation by urologist or transfusion
Neurologic
TIAs common, CVA Higher risk with low HbF, severe anemia, high reticulocyte counts, sleep apnea or high WBC. 11% of patients by age 20 yrs (age 2-10 peak) Large artery Thrombotic in kids, hemorrhagic in adults High rate of recurrence ( > 70%)
Neurologic
TCD. High risk peak velocity > 200 cm/sec Exchange transfusion with HbS goal < 30% Microvascular occlusion- cognitive disability Seizures Coma Exchange transfusion for acute stroke
MoyaMoya
Occurs when cerebral vasculature ( Circle of Willis) is obstructed with development of collateral circulation Collaterals prone to thrombosis or hemorrhage Often needs surgical correction Puff of smoke in Japanese on angiography
Chronic Organ Damage

Pulmonary Hypertension Proliferative retinopathy ESRD, nephrotic syndrome Leg ulcers Cholelithiasis, cholecystitis
Therapies

Transfusion Hydroxyurea Stem Cell Transplant
Transfusion
Used in acute crises Chronic to prevent stroke or pulmonary hypertension Risk: iron overload, alloimmunization, infection, hyperviscosity ( Hct < 30%) Chleation: defuroxamine, deferasirox
Hydroxyurea
Inhibits ribonucleotide reductase (S-phase cytotoxic drug) and promotes erythroid cells Increases production of HbF Decreased sickle cell complications by 50% Starting dose 15mg/kg/day. Inc by 5mg/kg until HbF > 15%. Max dose 30 mg/kg/day. AE: bone marrow suppression, liver toxicity, teratogenic
Bone Marrow Transplant

Curative but complex Event free survival 84%. Mortality 6% HLA matched donor Indications: stroke, positive TCD, multiple ACS, VOC, priapism Only 14% have HLA matched donor siblings
Preventive Care
Birth to 6 months
Confirm newborn screen Hb electrophoresis & G6PD at first visit Begin prophylactic PCN V 125 mg BID by 2 months of age Prevnar 13 and influenza vaccines Q 2 month visits CBC, reticulocyte count
6 months to 2 years
Visits q 3-6 months Start folic acid at 1 year Repeat Hb Electrophoresis Yearly CMP, iron / ferritin Yearly influenza vaccine
2 to 5 years
Q 6 month visits CBC, retic, CMP, iron/ferritin, UA Increase PCN to 250 mg BID at 3 yo Pneumococcal 23 valent vaccine at 2 yrs and booster at 5 years Transcranial doppler screen at 2 yo and q yr to age 16
Age > 5 years

Discontinue penicillin prophylaxis CBC, retic, CMP, iron/ferritin, UA Continue folic acid Echocardiogram, Hip xray at age 10 and q 2 years Retinal exam age 8 yrs and q 2 years
Health Maintenence
Genetic counseling Psychosocial support Education Provide Medical Home Chronic Pain managment/Addiction

Sickle Cell

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Sickle Cell

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Morning Report

Sickle Cell Disease

Dactylitis/ Hand-Foot Syndrome

Moth Eaten Appearance

Acute Splenic Sequestration

Acute Splenic Sequestration

Acute Pain Episode

VOC Pain Crisis

Treatment of Sickle Crisis

Acute Chest Syndrome

Chronic Organ Damage

Transfusion Hydroxyurea Stem Cell Transplant

Bone Marrow Transplant

Age > 5 years

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