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Key Features

Essentials of Diagnosis

  • Episodic right upper quadrant abdominal pain

  • Elevated bilirubin, alkaline phosphatase, and γ-glutamyl transpeptidase (GGT)

  • Stones or sludge seen on abdominal ultrasound

General Considerations

  • Gallstones may develop at all ages in the pediatric population and in utero

  • May be divided into cholesterol stones (> 50% cholesterol) and pigment (black [sterile bile] and brown [infected bile]) stones

  • Groups at risk for gallstones

    • Patients with known or suspected hemolytic disease

    • Females

    • Teenagers with prior pregnancy

    • Obese persons or individuals with rapid weight loss

    • Children with portal vein thrombosis

    • Certain ethnic groups, particularly Native Americans (Pima Indians) and Hispanics

    • Infants and children with ileal disease (Crohn disease) or prior ileal resection

    • Patients with cystic fibrosis or Wilson disease

    • Infants receiving prolonged parenteral hyperalimentation

    • Infants with bile acid transporter defects

  • Other, less certain risk factors

    • Positive family history

    • Use of birth control pills

    • Diabetes mellitus

Clinical Findings

Symptoms and Signs

  • Acute or recurrent episodes of moderate to severe, sharp right upper quadrant, or epigastric pain

    • May radiate substernally or to the right shoulder

    • Episodes often occur postprandially, especially after ingestion of fatty foods

    • Tenderness is present, with a positive inspiratory arrest (Murphy sign), usually without peritoneal signs

  • Nausea and vomiting may occur during attacks

  • On rare occasions, presentation may include a history of jaundice, back pain, or generalized abdominal discomfort, when it is associated with pancreatitis

  • While rarely present, scleral icterus is helpful

  • Evidence of underlying hemolytic disease in addition to icterus may include pallor (anemia), splenomegaly, tachycardia, and high-output cardiac murmur

  • Fever is unusual in uncomplicated cases

Differential Diagnosis

  • Liver disease (hepatitis, abscess, or tumor) can cause similar symptoms or signs

  • Peptic disease, reflux esophagitis, paraesophageal hiatal hernia, cardiac disease, and pneumomediastinum must be considered when the pain is epigastric or substernal in location

  • Renal or pancreatic disease is a possible explanation if the pain is localized to the right flank or mid back

  • Subcapsular or supracapsular lesions of the liver (abscess, tumor, or hematoma) or right lower lobe infiltrate may also be a cause of nontraumatic right shoulder pain

Diagnosis

Laboratory Findings

  • Usually normal

  • However, serum bilirubin and GGT (or alkaline phosphatase) may be elevated if calculi have lodged in the extrahepatic biliary system

  • Amylase and lipase levels may be increased if stone obstruction occurs at the ampulla hepatopancreatica

Imaging

  • Ultrasonography

    • Best imaging technique

    • Shows abnormal intraluminal contents (stones, sludge) as well as anatomic alterations of the gallbladder or dilation of the biliary ductal system

  • In selected cases, endoscopic retrograde cholangiopancreatography (ERCP), magnetic resonance cholangiopancreatography (MRCP), or endoscopic ultrasound may be helpful in defining subtle abnormalities of the bile ducts and locating intraductal stones

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