Question 1

What is Crigler-Najjar syndrome?

Accepted Answer

Crigler-Najjar syndrome is a rare inherited disorder that prevents the liver from properly processing bilirubin, a yellow pigment produced when red blood cells break down. It is caused by a deficiency or absence of the enzyme UDP-glucuronosyltransferase, which converts toxic unconjugated bilirubin into a form the body can eliminate. The Bilirubin, Total test is the most important diagnostic test for Crigler-Najjar syndrome, as it reveals markedly elevated levels of unconjugated bilirubin in the blood.

Question 2

What causes Crigler-Najjar syndrome?

Accepted Answer

Crigler-Najjar syndrome is caused by genetic mutations in the UGT1A1 gene, which provides instructions for making the UDP-glucuronosyltransferase enzyme. This enzyme is essential for converting unconjugated bilirubin (a toxic, fat-soluble form) into conjugated bilirubin (a water-soluble form that can be eliminated through bile). When this enzyme is missing or severely reduced, unconjugated bilirubin accumulates in the bloodstream and tissues, causing severe jaundice and potentially dangerous neurological complications if levels become extremely high.

Question 3

What is the best test for Crigler-Najjar syndrome?

Accepted Answer

The Bilirubin, Total test is the most important diagnostic test for Crigler-Najjar syndrome because it measures both conjugated and unconjugated bilirubin levels in the blood. In Crigler-Najjar syndrome, you will see severely elevated total bilirubin with the majority being unconjugated bilirubin, often ranging from 20-50 mg/dL or higher compared to normal levels of less than 1.2 mg/dL. This distinctive pattern of extremely high unconjugated bilirubin with little to no conjugated bilirubin is the hallmark of this rare genetic disorder and distinguishes it from other causes of jaundice.

Question 4

When should I get tested for Crigler-Najjar syndrome?

Accepted Answer

You should get tested if you or your newborn baby develops severe, persistent jaundice that appears within the first few days of life and does not respond to standard phototherapy treatment. Testing is also important if there is a family history of Crigler-Najjar syndrome or unexplained jaundice in infancy, or if you notice yellowing of the skin and eyes that worsens over time. Early diagnosis through bilirubin testing is critical because extremely high bilirubin levels can cause permanent brain damage, making prompt identification and management essential.

Question 5

What are the symptoms of Crigler-Najjar syndrome?

Accepted Answer

The primary symptom of Crigler-Najjar syndrome is severe jaundice, which causes yellowing of the skin, eyes, and mucous membranes that typically appears within the first few days of life. In Type 1 (the more severe form), infants may develop kernicterus, a type of brain damage caused by extremely high bilirubin levels, leading to symptoms like poor feeding, lethargy, high-pitched crying, abnormal muscle tone, and seizures. Type 2 is milder with lower bilirubin levels and less risk of neurological complications, though jaundice remains persistent throughout life.

Question 6

Who is at risk for Crigler-Najjar syndrome?

Accepted Answer

Crigler-Najjar syndrome is an inherited genetic disorder that affects individuals who receive mutated copies of the UGT1A1 gene from their parents. Type 1 requires two copies of the mutated gene (autosomal recessive inheritance), meaning both parents must be carriers, while Type 2 can occur with one or two mutated copies. The condition is extremely rare, affecting approximately 1 in 1 million births, and occurs equally in males and females across all ethnic groups. If you have a family history of the condition or are planning to have children and know you are a carrier, genetic counseling is recommended.

Question 7

What happens if Crigler-Najjar syndrome is left untreated?

Accepted Answer

If Crigler-Najjar syndrome is left untreated, extremely high levels of unconjugated bilirubin can cross into the brain and cause kernicterus, a type of permanent brain damage that leads to cerebral palsy, hearing loss, vision problems, intellectual disabilities, and movement disorders. In Type 1 Crigler-Najjar syndrome, bilirubin levels can reach life-threatening heights without daily phototherapy treatment, and the risk of neurological damage remains throughout life. Even in the milder Type 2 form, periods of illness, stress, or fasting can cause dangerous spikes in bilirubin levels, making ongoing monitoring and management essential to prevent complications.

Question 8

Can Crigler-Najjar syndrome be diagnosed with a blood test?

Accepted Answer

Yes, Crigler-Najjar syndrome can be diagnosed with a blood test that measures total and fractionated bilirubin levels. The Bilirubin, Total test reveals markedly elevated unconjugated bilirubin with normal or near-normal conjugated bilirubin, which is the characteristic pattern of this disorder. Additional blood tests may include liver function tests to rule out other causes of jaundice, and genetic testing can confirm the specific UGT1A1 gene mutations. The diagnosis is typically made in newborns when routine screening reveals persistent severe jaundice that does not respond to standard treatments.

Question 9

How is Crigler-Najjar syndrome treated?

Accepted Answer

Treatment for Crigler-Najjar syndrome Type 1 requires 10-12 hours of daily phototherapy using special blue lights that help break down bilirubin in the skin, making it easier for the body to eliminate. Liver transplantation is the only cure and is often considered in childhood or adolescence before brain damage occurs. Type 2 Crigler-Najjar syndrome can often be managed with a medication called phenobarbital, which increases the activity of the remaining enzyme and helps lower bilirubin levels. Regular blood testing to monitor bilirubin levels is essential for all patients to adjust treatment and prevent dangerous elevations.

Question 10

How can I prevent Crigler-Najjar syndrome?

Accepted Answer

Crigler-Najjar syndrome cannot be prevented because it is an inherited genetic disorder present from birth. However, if you have a family history of the condition or know you are a carrier of the UGT1A1 gene mutation, genetic counseling before pregnancy can help you understand the risks and options. Prenatal genetic testing can identify whether a fetus has inherited the condition, allowing for preparation and immediate treatment after birth. Once a child is diagnosed, preventing complications through consistent phototherapy, avoiding triggers that raise bilirubin levels (like fasting, dehydration, and certain medications), and maintaining regular monitoring can prevent brain damage.

Question 11

What can I do at home for Crigler-Najjar syndrome?

Accepted Answer

At home, individuals with Crigler-Najjar syndrome must maintain consistent phototherapy treatment as prescribed, typically 10-12 hours daily using specialized equipment. Stay well-hydrated and maintain regular eating schedules to prevent fasting, which can trigger dangerous bilirubin spikes. Avoid alcohol, certain medications, and supplements that can interfere with bilirubin processing, and always consult your healthcare provider before taking new medications. Keep regular appointments for blood testing to monitor bilirubin levels, and watch for signs of increased jaundice, changes in behavior, or neurological symptoms that require immediate medical attention.

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Accepted Answer

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How do I know which test to get?

Accepted Answer

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When will my lab results be available?

Accepted Answer

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Question 15

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Accepted Answer

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Accepted Answer

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Accepted Answer

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Accepted Answer

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Crigler-Najjar Syndrome Blood Test

What is Crigler-Najjar syndrome?

What causes Crigler-Najjar syndrome?

What is the best test for Crigler-Najjar syndrome?

When should I get tested for Crigler-Najjar syndrome?

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