Is abdominal ultrasound indicated for patients with Glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Abdominal Ultrasound in G6PD Deficiency

Abdominal ultrasound is not routinely indicated for G6PD deficiency itself, but should be performed when specific clinical complications arise, particularly acute hemolysis with suspected hepatobiliary involvement, neonatal jaundice with liver dysfunction, or when abdominal symptoms suggest cholecystitis or other intra-abdominal pathology.

Clinical Context of G6PD Deficiency

G6PD deficiency is the most common human enzymopathy, affecting approximately 400-500 million people worldwide, and most affected individuals remain asymptomatic throughout their lifetime 1, 2. The primary clinical manifestation is acute hemolytic anemia triggered by oxidative stressors including fava beans, certain medications (primaquine, rasburicase, dapsone, methylene blue), or infections 3, 1, 2.

When Abdominal Ultrasound IS Indicated

Neonatal Presentation with Jaundice and Liver Dysfunction

• Neonates with G6PD deficiency presenting with hyperbilirubinemia and jaundice require monitoring of liver function, as G6PD deficiency can precipitate progressive liver failure 4
• Abdominal ultrasound should be performed when liver enzyme abnormalities develop or persist, as baseline imaging is reasonable in pediatric populations with hepatic involvement 3
• Two documented cases of neonates with G6PD deficiency developed progressive liver failure requiring transplantation, underscoring the importance of hepatic monitoring 4

Acute Hemolytic Crisis with Abdominal Symptoms

• When patients present with acute hemolysis (anemia, fatigue, back or abdominal pain, jaundice, hemoglobinuria) AND develop right upper quadrant pain, fever, or signs of cholecystitis, ultrasound is indicated 2, 5
• Right upper quadrant ultrasound has 96% accuracy for detecting gallstones and can identify gallbladder wall thickening, pericholecystic fluid, and sonographic Murphy sign 6, 5

Suspected Hepatobiliary Complications

• If liver function tests become abnormal (elevated transaminases, alkaline phosphatase, or bilirubin) during or after hemolytic episodes, abdominal ultrasound should be performed 3, 6
• Ultrasound can detect acalculous cholecystitis, liver abscesses, or biliary obstruction that may complicate severe hemolysis 3

When Abdominal Ultrasound is NOT Indicated

Asymptomatic G6PD Deficiency

• Routine screening abdominal ultrasound has no role in asymptomatic patients with known G6PD deficiency 3
• The deficiency itself does not cause structural abdominal pathology requiring imaging surveillance 1, 2

Uncomplicated Acute Hemolysis

• In patients with acute hemolytic anemia without abdominal signs, symptoms, or liver function abnormalities, abdominal ultrasound should not be routinely performed 3
• The critical care guidelines explicitly recommend against routine abdominal ultrasound in febrile patients without abdominal symptoms or liver dysfunction 3

Diagnostic Algorithm

Step 1: Assess Clinical Presentation

• Is the patient symptomatic (hemolysis, jaundice) or asymptomatic? 1, 2
• Are there abdominal symptoms (pain, tenderness, distention)? 3, 6

Step 2: Check Liver Function Tests

• Obtain AST, ALT, alkaline phosphatase, bilirubin, and albumin 3
• If abnormal, proceed to imaging 3

Step 3: Determine Imaging Modality

• If right upper quadrant symptoms present: Start with RUQ ultrasound 6, 5
• If diffuse abdominal symptoms or unclear localization: Consider complete abdominal ultrasound 5
• If neonatal jaundice with liver dysfunction: Perform abdominal ultrasound as baseline 3, 4

Step 4: Follow-up Imaging

• For pediatric patients with documented liver involvement, repeat imaging every 12-24 months 3
• For adults with persistent hepatic abnormalities, consider CT or MRI every 6-12 months based on clinical findings 3

Important Clinical Pitfalls

• Do not delay diagnosis of G6PD deficiency waiting for imaging results - diagnosis is made through enzymatic activity testing or molecular analysis, not imaging 2, 7
• Ultrasound cannot diagnose G6PD deficiency itself - it only detects complications 1, 2
• In neonates with severe jaundice, liver failure can develop rapidly - early ultrasound and close monitoring are essential when liver enzymes are abnormal 4
• Dapsone should never be administered without screening for G6PD deficiency first, as it causes significant hemolysis and methemoglobinemia in deficient patients 3