Criggler Najjar Syndrome: Symptoms and Risks

Crigler Najjar Syndrome is a rare genetic disorder that affects the liver's ability to properly process a pigment called bilirubin. Bilirubin is normally broken down by the liver and excreted from the body, but in individuals with Criggler Najjar Syndrome, this process is impaired. As a result, high levels of bilirubin can accumulate in the blood, leading to a condition known as hyperbilirubinemia. This can have various impacts on the affected individual's health and well-being.

What are the Symptoms of Criggler Najjar Syndrome

Criggler Najjar Syndrome generally presents with symptoms related to the accumulation of a specific substance in the body.

Jaundice
Yellowing of the skin and eyes
Fatigue
Poor weight gain
Irritability
Difficulty feeding

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Causes of Criggler Najjar Syndrome

Criggler Najjar Syndrome primarily occurs due to a genetic mutation that affects the enzyme responsible for processing a substance called bilirubin in the liver.

Inherited gene mutation
Deficiency of the enzyme responsible for breaking down bilirubin

Types of Criggler Najjar Syndrome

Criggler Najjar Syndrome can be broadly classified into two distinct forms based on their severity and impact on the body.

CriglerNajjar Syndrome Type 1: The most severe form of the condition, characterized by a complete absence of the enzyme responsible for bilirubin processing.
CriglerNajjar Syndrome Type 2: A less severe form where there is some enzyme activity but insufficient for proper bilirubin breakdown, leading to milder symptoms compared to Type
CriglerNajjar Syndrome Type 3: A rare form with variable enzyme activity levels, resulting in intermittent jaundice and a less predictable course of the disease.
CriglerNajjar Syndrome Type 4: A very rare and milder form, often diagnosed in adulthood, where there is sufficient enzyme activity to prevent severe jaundice but may still require treatment.
Unspecified CriglerNajjar Syndrome: Some cases may not neatly fit into the established types due to varying enzyme activity levels, leading to challenges in classification and management.

Risk Factors

Individuals with Crigler-Najjar syndrome, a rare genetic disorder, have a higher risk when both parents carry the faulty gene, leading to reduced enzyme activity in the liver.

Family history of CriglerNajjar Syndrome
Inherited genetic mutations
Consanguineous marriage
Certain ethnic backgrounds such as Amish, Swiss, and Swedish populations

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Diagnosis of Criggler Najjar Syndrome

Crigler Najjar Syndrome is typically diagnosed through various tests to measure the levels of bilirubin in the blood.

Genetic testing
Liver function tests
Bilirubin levels measurement
Ultrasound imaging of the liver
Liver biopsy

Treatment for Criggler Najjar Syndrome

Criggler Najjar Syndrome is typically managed through treatments aimed at reducing high levels of bilirubin in the blood.

Phototherapy: This treatment involves exposing the skin to specific wavelengths of light to help break down bilirubin in individuals with CriglerNajjar Syndrome.
Liver transplantation: In severe cases of CriglerNajjar Syndrome, a liver transplant may be recommended to replace the dysfunctional liver with a healthy one to improve bilirubin metabolism.
Phenobarbital therapy: Phenobarbital is a medication that can help reduce bilirubin levels in some individuals with CriglerNajjar Syndrome by increasing the activity of liver enzymes.
Supportive care: Regular monitoring of bilirubin levels, nutritional support, and managing any complications that may arise are essential aspects of supportive care for individuals with CriglerNajjar Syndrome.
Gene therapy: Experimental approaches such as gene therapy are being researched to potentially correct the genetic defect responsible for CriglerNajjar Syndrome, offering a potential future treatment option.

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Frequently Asked Questions

What is Criggler Najjar Syndrome?

Criggler Najjar Syndrome is a rare inherited disorder that affects the liver's ability to process bilirubin, leading to high levels of unconjugated bilirubin in the blood.

What are the symptoms of Criggler Najjar Syndrome?

Symptoms may include yellowing of the skin and eyes (jaundice), fatigue, and potential neurological issues due to high levels of bilirubin in the blood.

How is Criggler Najjar Syndrome diagnosed?

Diagnosis is typically made through blood tests to measure bilirubin levels and genetic testing to confirm the presence of specific mutations associated with the syndrome.