Neonatal Cholesterolemia - An Overview

What is neonatal cholesterolemia?

Neonatal cholestasis is a condition that occurs when there is a blockage of bile flow in a newborn's liver cells. This condition can be caused by various factors, such as infections, metabolic issues, genetic abnormalities, and other related diseases. When the cause of neonatal cholestasis is unknown, it is referred to as idiopathic neonatal hepatitis.

It is estimated that around 1 in every 2500 live births results in neonatal cholestasis, with gene mutations responsible for 25% to 50% of cases. The symptoms of this condition can vary, but one common sign of liver disease is the yellowing of the skin and eyes.

In neonates, the liver is still developing, and any issues that impede its normal functions can have serious consequences. If left untreated, neonatal cholestasis can result in scarring, cirrhosis, and even liver failure. Therefore, early diagnosis and treatment are essential for managing this condition. Prompt medical attention can help alleviate the symptoms and prevent complications, leading to a better outcome for the affected newborns.

Common Symptoms of Neonatal Cholestasis

Symptoms and Signs of Neonatal Cholestasis include:

  • Jaundice and dark urine
  • Acholic stools and hepatomegaly
  • Chronic pruritus and fat-soluble vitamin deficiency if cholestasis persists
  • Decline in growth charts if cholestasis persists
  • Portal hypertension, abdominal distention, dilated abdominal veins, and upper GI bleeding if the underlying disorder causes hepatic fibrosis and cirrhosis. Etiology of Neonatal Cholestasis: Extrahepatic causes:
  • Biliary atresia (most common)
  • Biliary cysts and inspissated bile duct syndrome (less common) Intrahepatic causes:
  • Infectious, alloimmune, metabolic/genetic, or toxic causes
  • Infections: viral, bacterial, or parasitic
  • Gestational alloimmune liver disease
  • Metabolic causes: numerous inborn errors of metabolism, genetic defects, and toxic causes
  • Idiopathic neonatal hepatitis syndrome (rare)

Diagnosis of Neonatal Cholestasis

To diagnose neonatal cholestasis, doctors may perform total and direct bilirubin tests, liver function tests, and tests for metabolic, infectious, and genetic causes. They may also use liver ultrasonography and hepatobiliary scans and, in some cases, perform a liver biopsy or genetic testing. Cholestasis is confirmed by elevated total and direct bilirubin levels, and further testing is needed to determine the cause.

Abdominal ultrasonography and a HIDA scan are often used to assess the liver, and a liver biopsy may be performed if no diagnosis has been made. Treatment depends on the underlying cause. All infants who are jaundiced after two weeks of age and breastfed infants with jaundice after three weeks of age should be evaluated for cholestasis.

What causes Neonatal Cholestasis?

Neonatal cholestasis can be caused by various factors, such as viruses (like CMV and herpes), metabolic liver illnesses, genetic conditions (such as alpha-1-antitrypsin deficiency and Alagille syndrome), and rare diseases that affect liver function. In 15-20% of cases, neonatal cholestasis is hereditary, and genetic factors are recognised as significant contributors. Usually, doctors can identify the underlying causes of neonatal cholestasis promptly.


The treatment for neonatal cholestasis involves careful attention to the infant's nutrition and diet. The doctor may suggest special supplements, dietary restrictions, or infant formulas based on the individual's needs. While no specific treatment is available for neonatal cholestasis, the doctor can manage the particular symptoms as they appear.

In cases where itching becomes a problem, the doctor may recommend ursodeoxycholic acid, a drug used to treat liver disease-related itching. If an infant develops end-stage liver disease, liver transplantation may be the only option left and is considered a last-resort surgical choice.

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1. How does NC differ from physiological jaundice?

A typical and benign ailment that usually goes away during the first two weeks of birth is physiological jaundice. On the other hand, the pathological state known as NC is brought on when the conjugated bilirubin level rises beyond 1 mg/dL and might cause underlying severe disorders.

2. What is the recommended approach to diagnosing and managing NC?

NC is often diagnosed through a step-by-step process that begins with a thorough history and physical exam. The blood bilirubin level should be fractionated if jaundice persists for more than two weeks in full-term newborns or three weeks in preterm infants. A better prognosis and more precise therapy are guaranteed by an early NC diagnosis. Although specific causes of NC have no known cure, early medical intervention and dietary control can be helpful. Future studies should concentrate on tools for NC screening and efficient treatments for specific causes.

3. What is sepsis, and how is it linked to neonatal cholestasis?

When the body's immunological reaction to infection results in widespread inflammation, it develops sepsis, a potentially fatal illness. Newborn cholestasis can cause it, as bacterial endotoxins and lipopolysaccharides produced by inflammatory mediators can cause the production of cytokines, resulting in neonatal cholestasis, which, if left untreated, can further aggravate sepsis.

4. What are the risk factors for neonatal cholesterolemia?

Formula feeding, particularly with carbohydrate-rich formulas, has been associated with spikes in fasting glucose and insulin, which are linked to an increase in LDL cholesterol in early childhood. Breastfeeding is inversely associated with total and LDL cholesterol levels later in life.

5. What are the average cholesterol levels in neonates and adults?

The average total cholesterol in a newborn is 70 mg/dL, and LDL cholesterol is reported as 238 ± 1062 mg/dL in males and 255±929 mg/dL in female neonates. In adults, the average levels of total cholesterol are 193 ± 42 mg/dL, and LDL cholesterol is 115 ± 35 mg/dL.

6. What are the effects of neonatal cholesterolemia?

Hypercholesterolemia is an important risk factor for cardiovascular disease. Both total and LDL cholesterol levels are threefold higher at the end of the first year of life and about fourfold higher in adulthood compared with the neonatal period.

7. What is the relationship between breastfeeding and neonatal cholesterolemia?

Breastfeeding is inversely associated with total and LDL cholesterol levels later in life. The mean total cholesterol levels in adulthood were lower in breastfed infants compared with formula-fed infants. However, the results of studies on this topic have been inconsistent.

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