Book
Diagnosis of Neonatal and Infantile Cholestasis
- Recommendations
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Table 3. Recommendations |
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A. Definition and etiologies |
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N |
Health questions |
Source Guideline |
Recommendations |
Quality of evidence |
Strength of Recommendation |
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A1
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What is the definition of neonatal cholestasis?
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(2) |
1-Neonatal/ Infantile cholestasis (NIC) is defined as an impairment in bile formation and/or flow (with all its constituents) presenting during the first year of life, usually in the first three months, and resulting in the retention of bile and biliary substances within the liver that cause liver damage.
2- Serum conjugated bilirubin > 1mg/dl (17 mmol/L) if total bilirubin is < 5 mg/dl, or > 20% if total bilirubin > 5 mg/dl, is considered diagnostic of cholestasis and warrants further evaluation.
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High
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Good practice statement
Strong
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A2 |
What are the causes of cholestasis? |
(1) |
3- Once cholestasis has been documented in an infant, achieving a rapid etiological definition is of primary importance. The wide spectrum of causes potentially underlying NIC entails a complex diagnostic approach that depends on the accompanying clinical picture. For practical purposes, causes of cholestasis are divided into surgical and medical conditions. |
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Good practice statement
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Table 4. Recommendations |
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B. Diagnosis and emergency treatment |
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N |
Health questions |
Source Guideline |
Recommendations |
Quality of evidence |
Strength of Recommendation |
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B1 |
What is the diagnostic approach to different etiologies of cholestasis in neonates and infants?
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(1) |
4- In jaundiced infants with suspected or confirmed cholestasis a detailed pre-, peri-, and postnatal medical and family history should be obtained. |
Moderate
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Strong
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5- Infants with jaundice should receive a complete physical examination in particular searching for the presence of hepatomegaly and / or splenomegaly, dysmorphic features, growth and nutritional status, skin lesions, cardiac murmurs and neurologic examination. |
High
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Strong
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6- Direct visualization of stools color and its monitoring should be part of the clinical evaluation of any infant with jaundice. |
High
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Strong
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7- Infants with jaundice persisting after 2 weeks of age should be evaluated for cholestasis by measurements of serum total and direct reacting (conjugated) bilirubin. |
High
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Strong
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8- Upon evaluating causes of cholestasis, a stepwise approach is important to rule out first diseases with available treatment as sepsis, congenital hypothyroidism, galactosemia and surgical causes as biliary atresia and choledochal cyst |
Moderate |
Strong
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9- In infants with cholestasis, inborn errors of metabolism (IEM) should always be considered in the differential diagnosis. Clinicians should be aware of which IEM causing cholestasis is included in the expanded newborn screening of their own region/country. |
High
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Strong
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10- A careful clinical evaluation, combined with first-level laboratory testing, may raise the suspicion of specific IEM, indicating second level laboratory analyses for confirmatory diagnosis |
High
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Strong
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B2 |
What is The Role of Ultrasound in Diagnosis of Cholestasis?
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11- Infants with cholestasis should undergo liver ultrasound to exclude biliary obstructive conditions other than biliary atresia, such as choledochal malformations or gallstone disease. 12- Findings such as the absence of the gallbladder or its dysmorphic aspect, along with other minor features suggestive of biliary atresia, should always be searched for at liver ultrasound. |
High
High
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Strong
Strong
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B3 |
What is The Role of other imaging in Diagnosis of Cholestasis?
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(1)
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13- Endoscopic or direct surgical exploration and evaluation of biliary tract by cholangiogram is considered the gold standard to positively and definitively establish the diagnosis of biliary atresia (as well as neonatal sclerosing cholangitis) 14-Magnetic Resonance Cholangio-Pancreatography (MRCP) is not reliable as the normal biliary tract is not consistently visualized in children under 3 months of age; false negative results are thus common. 15-Hepatobiliary scintigraphy is not recommended anymore. |
High
High
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Strong
Strong
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B4 |
When to Refer a Cholestatic Neonate or Infant for Liver Biopsy?
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(1)
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16- Liver biopsy is useful to discriminate between extrahepatic and intrahepatic causes of NIC and may provide important clues for specific underlying etiologies, when performed at the appropriate timing and evaluated by an experienced pathologist. Liver biopsy should be only done after the consultation of a pediatric hepatologist. |
Moderate
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Strong
Good practice statement
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B5 |
How to Detect Complications in Cholestatic Neonates & Infants?
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(1)
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17- Infants with Cholestatic liver disease may present acutely with complications such as bleeding due to vitamin K deficiency. 18- The following could be indicators of complications in cholestatic neonates and infants: - Episodes of acute metabolic decompensation such as hypoglycemia, hyperammonemia, acidosis, or acute liver failure/involvement. - Recurrent/chronic vomiting, - Neurological signs. - Multi-organ involvement. - Ill appearance may indicate infection or metabolic disease - Lethargy, and poor feeding. These are managed in parallel to the rapid diagnostic work-up. |
High
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Good practice statement
Strong
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B6 |
What is The Emergency Treatment of Cholestasis In Neonates And Infants? |
(10)
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19- At first encounter with cholestatic infant (proven or suspected) 2 mg Vitamin K1 should be given intramuscularly |
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Good practice statement
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B7 |
What about vaccination of cholestatic neonates and infants? |
(11) |
All age-appropriate immunizations should be given to infants with cholestasis if there are no other contraindications.
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Good practice statement
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