Overview
Definition:
Gallstones in sickle cell disease (SCD) are a common complication arising from chronic hemolysis, leading to increased bilirubin excretion and supersaturation of bile
This predisposition can manifest as symptomatic cholelithiasis, necessitating surgical intervention.
Epidemiology:
The prevalence of gallstones in children with SCD varies but can be as high as 25-40% by adolescence
it is significantly higher than in the general pediatric population
Black children have a higher incidence of SCD and associated gallstones.
Clinical Significance:
Symptomatic gallstones can lead to significant morbidity in children with SCD, including biliary colic, cholecystitis, choledocholithiasis, and pancreatitis
Early diagnosis and appropriate management, including timely cholecystectomy, are crucial to prevent complications and improve quality of life for these vulnerable patients
Understanding this complication is vital for pediatricians and pediatric surgeons preparing for DNB and NEET SS examinations.
Clinical Presentation
Symptoms:
Right upper quadrant or epigastric pain, often colicky and radiating to the back or shoulder
Nausea and vomiting
Fever, especially with acute cholecystitis
Jaundice may indicate common bile duct obstruction
Asymptomatic gallstones may also be present.
Signs:
Tenderness in the right upper quadrant (Murphy's sign positive in cholecystitis)
Abdominal distension
Fever
Pallor due to underlying anemia
Jaundice
Palpable gallbladder (rare).
Diagnostic Criteria:
Diagnosis is typically based on clinical suspicion supported by imaging
Ultrasound is the modality of choice
Laboratory findings like elevated liver enzymes, bilirubin, and white blood cell count can support the diagnosis of symptomatic cholelithiasis or cholecystitis.
Diagnostic Approach
History Taking:
Detailed history of abdominal pain (character, duration, radiation, exacerbating/alleviating factors)
History of SCD diagnosis and vaso-occlusive crises
Previous episodes of jaundice or fever
Family history of gallstones or SCD
Review of previous medical records for signs of hemolysis.
Physical Examination:
Careful abdominal examination, including palpation for tenderness, guarding, and rebound tenderness
Assessment for signs of jaundice
Auscultation for bowel sounds
Evaluation for signs of anemia.
Investigations:
Abdominal ultrasound: The primary imaging modality to detect gallstones, assess gallbladder wall thickness, and evaluate the biliary tree
Laboratory tests: Complete blood count (CBC) to assess for anemia and leukocytosis
Liver function tests (LFTs) including total and direct bilirubin, ALT, AST, alkaline phosphatase, and GGT
Amylase and lipase to rule out pancreatitis
Urine analysis
Magnetic Resonance Cholangiopancreatography (MRCP) may be considered for suspected common bile duct stones
Nuclear medicine hepatobiliary iminodiacetic acid (HIDA) scan if gallbladder function is in question.
Differential Diagnosis:
Peptic ulcer disease
Pancreatitis
Appendicitis (especially if pain is migratory)
Gastroenteritis
Functional abdominal pain
Hepatitis
Other causes of conjugated hyperbilirubinemia.
Management
Initial Management:
For symptomatic gallstones, initial management focuses on pain control with analgesics and antiemetics
Hydration with intravenous fluids
Antibiotics if infection (cholecystitis) is suspected
NPO status may be required
Consultation with pediatric surgery and hematology.
Medical Management:
Ursodeoxycholic acid (UDCA) can be considered for patients with specific types of pigment stones, though its efficacy in SCD is debated and generally reserved for asymptomatic or selected symptomatic cases not requiring surgery
Pain management is crucial.
Surgical Management:
Cholecystectomy is indicated for symptomatic gallstones in SCD
Elective laparoscopic cholecystectomy is the preferred approach
In cases of acute cholecystitis, prompt surgical intervention is recommended
Laparoscopic approach is generally safe and offers faster recovery
Open cholecystectomy may be necessary for complex cases or if laparoscopic surgery is not feasible
Preoperative management of SCD is essential, including adequate hydration, pain control, and potentially partial exchange transfusion in select high-risk patients to minimize perioperative complications.
Supportive Care:
Aggressive pain management
Adequate hydration
Nutritional support
Close monitoring for signs of infection or complications
Postoperative care includes pain control, early mobilization, and monitoring for biliary leakage or bleeding.
Complications
Early Complications:
Acute cholecystitis
Cholangitis
Pancreatitis
Biliary peritonitis
Wound infection
Post-operative bleeding
Bile leak.
Late Complications:
Recurrent biliary colic if incomplete removal or retained stones
Cholangiocarcinoma (rare)
Post-cholecystectomy syndrome
Chronic pain.
Prevention Strategies:
Prophylactic cholecystectomy is generally not recommended for asymptomatic gallstones in SCD due to surgical risks, but careful surveillance is warranted
Aggressive hydration and management of SCD to reduce hemolysis may indirectly reduce gallstone formation
Early diagnosis and intervention for symptomatic gallstones are key to preventing more severe complications.
Prognosis
Factors Affecting Prognosis:
The presence and severity of underlying SCD
Promptness of diagnosis and treatment
Development of complications like cholangitis or pancreatitis
The success of surgical intervention and management of SCD perioperatively.
Outcomes:
With timely and appropriate cholecystectomy, the prognosis for symptomatic gallstones in SCD is generally good, with relief of symptoms and reduced risk of complications
However, the underlying SCD will continue to require ongoing management.
Follow Up:
Regular follow-up with the pediatric hematology and surgery teams is essential
Monitoring for recurrence of symptoms or complications
Long-term management of sickle cell disease
Adherence to SCD care guidelines.
Key Points
Exam Focus:
Gallstones in SCD are primarily pigment stones due to chronic hemolysis
Ultrasound is the diagnostic modality of choice
Symptomatic gallstones warrant cholecystectomy, preferably laparoscopic
Preoperative optimization of SCD is critical.
Clinical Pearls:
Always consider gallstones in a child with SCD presenting with abdominal pain
Even asymptomatic gallstones in SCD may require closer monitoring or consideration for prophylactic surgery if specific risk factors are present (e.g., history of significant hemolysis).
Common Mistakes:
Delaying surgery for symptomatic gallstones due to concerns about SCD
Inadequate preoperative management of SCD
Overlooking choledocholithiasis or cholangitis
Misinterpreting ultrasound findings in obese or very young patients.