Alagille syndrome is a relatively rare genetic disorder that affects the liver as well as the heart, lungs, and other areas. Estimates for the frequency of Alagille syndrome vary from one in every 70,000 infants to as high as one in every 30,000 due to underdiagnosis. Children and other patients with Alagille syndrome usually have abnormal bile ducts, which can cause liver damage due to a buildup of bile in the body.
We understand how challenging it can be for children and parents alike to navigate the complexities of this condition. Although Alagille syndrome is a serious diagnosis without a current cure, it is also a manageable one for you and your little one. The following guide can help you learn more about this condition, including the causes, treatment options, and meeting child care needs.
Alagille Syndrome Causes
As a genetic condition, the biggest risk factor for developing Alagille syndrome is a mutation in the JAG1 gene. This particular genetic defect is the underlying cause of the vast majority of cases for Alagille syndrome, although a smaller group will have a mutation in a different gene, the NOTCH2.
In some cases, the genetic defect was inherited from a parent. Alagille syndrome can also develop due to random mutation during the formation of reproductive cells.
The affected genes are responsible for the signaling that helps to build structures during embryonic development. A defect in the JAG1 or NOTCH2 can disrupt the signaling pathways which can affect the development of bile ducts and other parts of the body.
Bile, and the bile ducts, play a critical role in the body. Bile is part of the digestive system and is responsible for breaking down fats to be absorbed into the bloodstream. Bile is made in the liver, then is transported to the gallbladder and eventually the small intestine through the bile ducts.
When there is dysfunction and/or deformity in the bile ducts caused by a condition like Alagille syndrome, it can cause bile to become trapped in the liver. Too much bile can be corrosive and start to cause liver damage.
Alagille syndrome and associated genetic abnormalities can also cause heart problems, spinal issues, and result in a distinctive set of facial features.
Alagille Syndrome Symptoms
Each case of Alagille syndrome is different, but frequently reported symptoms include:
- Itchiness in the skin
- Dark urine
- Gray or white stool
- Stunted growth
- Chronic diarrhea
- Heart murmur
- Changes in blood vessels
- Kidney disease
- Enlarged spleen
- White ring in the eye
- Jaundice — a yellowish tinge in the eyes and skin
- Xanthomas — deposits of cholesterol in the skin
- Tetralogy of Fallot — a combination of heart defects that includes a hole between the lower chambers and impaired blood flow between the heart and lungs
- Distinctive facial features, including pointed chin, broad forehead, and deep-set eyes
- Spinal deformities, including a “butterfly” shape to the vertebrae
A diagnosis by a physician is required to confirm the presence of Alagille syndrome.
Diagnosing Alagille Syndrome
Alagille syndrome is often diagnosed at birth or in early infancy, but it is sometimes not detected until later in childhood or even adulthood in rare cases. If there are any signs or symptoms of this condition, a doctor can perform the following tests to diagnose Alagille syndrome:
- Liver biopsy to check the number and function of the bile ducts
- Blood tests, primarily to test liver function
- Ultrasound of the abdomen and heart to check for abnormalities
- Eye examination
- X-ray of the spine to detect vertebral deformity
- Genetic testing
- Physical examination
- Review of medical history
Alagille SyndromeTreatment
The primary goal of treatment for Alagille syndrome is to manage symptoms. Liver damage caused by this condition can disrupt the absorption of key vitamins into the bloodstream, which is the source of many complications.
One way to improve symptoms is to take supplemental vitamins, particularly A, D, E, and K. Oral vitamins are usually effective, but injections may be required for some people.
Your pediatrician may also prescribe certain medications to promote bile flow, and to reduce certain symptoms such as itching.
In babies, supplemental formula may help with weight gain if the child isn’t absorbing the nutrients they need from breast milk. Ongoing dietary assessments may be required, including overnight feeding from a nasogastric tube.
Liver transplants are very rare but may be required in certain cases of severe damage.
Caring for a Child with Alagille Syndrome
Babies and children with Alagille syndrome often have a range of care needs. Parents and other caregivers must manage multiple doctors appointments, medication and supplement administration, blood tests, heart monitoring, as well as nutritional and feeding requirements.
For many families, pediatric home care can be a key part of this process. A qualified home health nurse can provide compassionate, experienced care that allows children with Alagille syndrome to grow and thrive.
Contact Care Options for Kids For Pediatric Home Health Care
It can be hard to balance your time between work, home, and caring for a child. That’s why our team of skilled professionals at Care Options for Kids is here to help.
Our home health care services offer support in the comfort of your home. We refer loving and competent nurses to provide customized care for families — from a few hours a day to around-the-clock supervision. Contact us directly to speak with a home health care professional or request a free in-home assessment. Together we can determine the best plan of action to keep your loved ones happy and healthy.
If you are considering pediatric home health care services, contact the caring staff at Care Options for Kids. Call today at (888) 592-5855.
