Alagille Syndrome

Alagille Syndrome is a rare, genetic, multi-system disorder, affecting around 1 in 100,000 people. Actual diagnosed cases are even less than that, because sometimes only one system is affected and treated and a true diagnosis is never made. The primary organs affected are the liver and the heart, but there are various other symptoms of the disease. Some symptoms are minor, having little to no effect on bodily function, while others can be life-threatening and require major medical intervention for survival.

Symptoms of Alagille Syndrome include:

Liver damage, presenting itself as:

• jaundice
• itching
• xanthomas (cholesterol deposits on the skin)

Heart problems, usually Tetralogy of Fallot

Unusual butterfly shape of bones on spinal column

Certain facial features, including:

• prominent forehead
• deep-set eyes
• small, pointy chin

There's no cure for Alagille Syndrome.  Treatments focus on improving heart and/or liver function.  Medicines such as Ursodiol and Rifampicin are often used to aid in bile flow and to treat itching.  As reduced bile flow makes it difficult for the affected's body to process the vitamins A, D, E, and K, a mult-vitamin containing these is often given.

In the worst cases of liver disorder, a liver transplant is necessary.  Liver transplantation has been performed in the United States since 1963, with success rates growing steadily throughout the 1970s and 1980s.  Current one-year post-transplant survival rates are around 90%, with 15 year survival estimated around 60%.  The effects of a transplant on the well-being of a child with a severe case of liver disease from Alagille Syndrome cannot be overestimated.

As with many of my Hubs, I have a personal connection with this one.  My daughter, Jenna, was born with Alagille Syndrome.  While she has at least some symptoms with most of her body systems, her liver was by far the worst affected.  She spent the first three years of her life suffering with the itching and sickness associated with the disorder.  There were times she would bloody herself while scratching her skin, and it got to the point where we would have to keep her mostly covered, even in summer months.  There weren't very many nights that she slept the whole night through; it was like having a colicky baby for three years.

She got her new liver when she was three, and the changes to her body and well-being were almost immediate.  The xanthomas, which had been so severe she didn't even have full range of movement with her fingers, started to disappear and the itching went away too (although she did have some "phantom itching" for a little while).  She will occasionally still have issues related to her disorder and the transplant (her anti-rejection medicine suppresses her immune system, making it more likely that she'll get sick), but overall she is doing very well.  She's certainly much happier than she was pre-transplant and is a little ray of sunshine, brightening the day of anyone she comes across.