Get Acquainted With ALGS, A Lesser-Known Rare Liver Disease
Estimated by NORD to impact fewer than 30,000-45,000 people in the United States, individuals living with Alagille syndrome (ALGS) with cholestatic pruritus may be rare, but they need not be alone.
To lend better support to the community impacted by Alagille syndrome, The Mighty has compiled more information about this rare genetic syndrome, as well as the lived experiences of those who know what life is like with ALGS.
What is ALGS?
Alagille syndrome (ALGS) is a rare genetic disorder affecting multiple parts of the body including the liver, heart, skeleton, eyes and kidneys. Symptoms are often detected early in childhood. When it affects the liver, it can lead to cholestatic pruritus which causes abnormalities and reduction of the liver’s bile ducts, according to the National Institutes of Health. Structural abnormalities in the liver cause reduced flow of the digestive enzyme bile out of the liver (cholestasis). Bile then builds up in the liver, leading to liver damage and uncontrolled itching (pruritus). Symptoms can also affect the development of one’s eyes, heart, face, kidneys, and spine.
People with ALGS either have fewer or misshapen bile ducts that prevent enough bile from passing from the liver into the small intestine. Bile backing up into the liver can cause scarring, nutrition absorption problems, and prevent toxins from being properly cleaned from the body.
Bile plays an important role in helping the body flush out toxins as it works to remove waste from the blood. It is composed of several materials, including water, electrolytes, bile salts, cholesterol, phospholipids, and bilirubin, which is produced when the body breaks down red blood cells. Bile also plays a part in digesting fats and fat-soluble vitamins like A, D, E, and K.
ALGS is primarily a disorder of the liver but it can also impact the heart, kidneys, skeleton, eyes, and facial features. Symptoms of Alagille syndrome are most often noticed during infancy or early childhood. Children born with the syndrome tend to have an inverted triangular face, featuring a high, prominent forehead, pointed chin, deep, wide-set eyes, and a straight nose with a bulbous tip.
In the 1960s, researchers pinpointed a mutation of chromone 20 as the likely cause of ALGS. Further research identified changes to a gene called Jagged1 in people with Alagille. It is autosomal dominant, so can be inherited from only one parent who carries the genetic trait for the disorder.
Living with Alagille syndrome
Because Alagille is so rare, for patients and families, setting up a knowledgeable health care team to guide one’s care can be a challenge. In her personal story, Mighty contributor Mia Carella recalls taking her child to the doctor: “You sit in the exam room and give a detailed medical history for their chart. You mention the rare genetic syndrome that your child was diagnosed with in infancy. A concerned look washes over the doctor’s face. ‘Can you spell that, please?’ they ask.”
However, Mia shares hope that the process is improving. “[W]e often get questions from doctors. The thorough and interested doctors often inform us that they will ‘read up’ on [ALGS] after our appointment. At this point, my husband and I can have a little laugh when we realize we have stumped yet another medical professional, but it hasn’t always been that way. In the beginning, I would feel frustrated and worried that I knew more about the condition affecting my children than the people caring for them.”
She added: “Things have improved over the years, and as knowledge about Alagille syndrome and awareness grows, things will continue to get easier. This is my hope for all families affected by rare diseases and conditions.”
Some people with ALGS find they experience intense itching called cholestatic pruritus. This sensation is caused by the buildup of bilirubin and bile salts in the bloodstream, which triggers certain nerve impulses. The itching may or may not be accompanied by jaundice or other symptoms, and it can range from mild to extremely severe.
For Mighty contributor Kristen Baugher, pruritus is just one of a host of symptoms her daughter battles. She explains in her letter to Alagille syndrome, “You’ve created an invisible pain itching in my daughter’s body that causes day-and-night suffering. You keep her body from growing and thriving. You keep us from sleeping and resting. You threaten so many parts of her that it’s hard to keep up.”
The itching almost never improves on its own and a doctor might recommend the use of medications called antipruritics. Although many people associate antihistamines with itch relief, they have not been found to be effective in relieving the itch of cholestatic pruritus — although they may provide relief through sleep. In some cases, the itching may be so severe a doctor will recommend a liver transplant.
Because there is no cure for ALGS, treatment is centered on symptom and lifestyle management. Nutrition and vitamin supplementation is an important piece, as most people are unable to absorb all the necessary nutrients from a regular diet.
Children, in particular, may need to supplement with vitamins A, D, E, K, in addition to calcium and zinc. It is recommended for a doctor to be consulted before beginning any supplements, however, as some blood levels will need to be monitored. Vitamin K can be toxic to the liver in high doses and should only be taken under medical supervision.
- In addition to consulting your doctor — which should always be the first line of defense when treating ALGS — here are a few recommendations to consider in order to help you or your loved one combat the urge to itch: Keeping skin moisturized, especially with emollient creams.
- Using a cooling cream, either purchased or homemade from menthol crystals and aqueous cream.
- Taking a cool shower or placing a cool, wet towel on skin.
- Wearing loose, cotton clothing. Avoid wool, which can be itchy.
- Keeping nails short and clean in case you do need to scratch an itch.
Given the small size of the ALGS community, there is an ongoing need for additional information and resources for those living with, or caring for someone living with, the condition. The Alagille Syndrome Alliance — an organization dedicated to making life with a rare disease like ALGS a bit easier through phone support, events, and information about clinical trials — may be a useful touchpoint in navigating your family’s unique circumstances with the disorder.
If you have any advice about living better with ALGS, including managing the itch of cholestatic pruritus, please add them in the comments below.