Alstrom syndrome

Treatment

What are the first steps after an initial diagnosis of Alstrom syndrome?

After a diagnosis of Alstrom syndrome is confirmed, families should seek a medical consultation with a physician such as a geneticist with experience in the disorder. Support groups such as the Alstrom Syndrome International can sometimes provide referrals to physicians or medical centers with experience in treating Alstrom syndrome. At most medical centers you will see a medical geneticist, genetic counselor, and nurse who work as a team. They will answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan. The medical center will work with your current doctors to organize the treatments, tests, and specialists needed to manage the health of a person with Alstrom syndrome.

People diagnosed with Alstrom will go through a series of tests to what symptoms of the disorder have developed. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor who can help you understand the genetic aspects of this disorder. The National Society of Genetic Counselors website offers a Find a Genetic Counselor tool on its website. This can help people find a genetic counselor within the United States.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed May 4, 2018. https://rarediseases.org/rare-diseases/alstrom-syndrome/
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Is there a treatment for Alstrom syndrome

Are there treatments for vision loss in Alstrom syndrome?

Are there treatments for hearing loss in Alstrom syndrome?

Are there treatments for obesity in Alstrom syndrome?

Are there treatments for kidney problems in Alstrom syndrome?

Is there a treatment for Alstrom syndrome

As of February 2021, there are no FDA-approved treatments for all of the symptoms of Alstrom syndrome. Because of this, doctors will try and treat the symptoms of the disorder individually.

Sensitivity to sunlight called photophobia can be treated with prescription glasses that have a special tint. If cataracts develop, they can be removed surgically if necessary. There are devices and aids that help to maximize a child's remaining sight. Children should receive training and education for blindness or limited sight while they still have adequate sight. Because vision loss gets worse over time, training and education should be started as soon as possible.

Hearing aids can be used for hearing loss. In addition, cochlear implants have been used to treat conductive hearing loss. These devices are surgically implanted into the ear and bypass the damaged portion of the ears. Some children with Alstrom syndrome repeated middle ear infections (called glue ear) which may be treated surgically if needed.

Diet and medicine are used to treat some of the complications of Alstrom syndrome. Because children with Alstrom syndrome are at risk of obesity, doctors may recommend that children follow a strict dietary plan and encourage exercise. Diet and exercise may also be helpful in treating diabetes. Affected children may also need medications to lower their glucose levels or to reduce blood pressure. Medications may be prescribed to treat heart disease. Medications that have nicotinic acid can help treat very high levels of fat (triglycerides) in the blood. Hormone supplementation may be necessary as children reach puberty.

Alstrom syndrome is a complex disorder that can affect many different organ systems of the body. Many doctors recommend that affected children and adults be seen at a clinic that specializes in these disorders. At most medical centers, you will see a medical geneticist, genetic counselor, and nurse who work as a team to answer your questions, discuss testing, identify your at-risk family members, and develop a comprehensive evaluation and treatment plan for you. They will work with your current doctors to organize the treatment, tests, and specialists you need. Alstrom Syndrome International has a list of these centers in the United States.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
Are there treatments for vision loss in Alstrom syndrome?

Over time, people with Alstrom syndrome can develop vision loss and potentially blindness. Doctors recommend that children learn certain skills and abilities while they still have sight. This can include mobility training, adaptive living skills, voice recognition and transcription software and the use of Braille. There are also talking computers and reading machines that can help those with limited or no vision.

Children with Alstrom syndrome should be seen by a team of doctors. That team should include an ophthalmologist, which is a doctor that specializes in diagnosing and treating the eyes. Supports groups such as Alstrom Syndrome International may be able to provide referrals to ophthalmologists who have experience with the disorder, or to medical centers that have experience treating Alstrom syndrome.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
Are there treatments for hearing loss in Alstrom syndrome?

Some people with Alstrom syndrome develop hearing loss. Hearing aids can help. Some children will need hearing aids in both ears. Hearing aids can help when there is a problem with the nerves in relaying information to the brain. Some children may receive cochlear implants. These devices stimulate nerve fibers within the ear and can help improve severe hearing loss.

Repeated middle ear infections (sometimes called glue ear due to the sticky fluid that develops inside the ear) can contribute to hearing loss. A surgical procedure called myringotomy can help stop infections. In this procedure, a small cut is made in the ear drum, which allows fluid in the middle ear to drain out. The cut eventually heals.

Children with Alstrom syndrome should be seen by a team of doctors. That team should include a doctor that specializes in diagnosing and treating the ears like an ear-nose-throat specialist called an otorhinolaryngologist. Supports groups such as Alstrom Syndrome International may be able to provide referrals to specialists who have experience with Alstrom syndrome, or to medical centers that have experience treating Alstrom syndrome.

References
  • Marshall, JD et. al. (2019, June). GeneReviews. Alstrom Syndrome. Retrieved on February 23, 2021 from https://www.ncbi.nlm.nih.gov/books/NBK1267/
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
Are there treatments for obesity in Alstrom syndrome?

Children with Alstrom syndrome are at risk for developing obesity. Doctors recommend that these children follow a healthy diet and get enough exercise or physical activity. Children should receive a reduced amount of calories. Exercise programs will have to be adapted for children with vision loss or blindness. Following healthy dietary recommendations will also help with diabetes and high levels of fats in the blood (hypertriglycerides).

Are there treatments for kidney problems in Alstrom syndrome?

Some people with Alstrom syndrome develop problems with the kidneys. Kidneys are organs in the body that take waste matter from your blood and send it out of your body as urine. Over time, the kidneys begin to function poorly and slowly get worse. This can start in the teenage years for some people, while other people these problems won't begin until adulthood. An early sign of kidney disease is excessive levels of protein in the urine. This is called proteinuria. Doctors may give patients a type of medication called an angiotensinogen-converting enzyme (ACE) inhibitor which may decrease the amount of protein in the urine and may help preserve kidney function.

Sometimes, kidney function gets so bad that doctors will recommend a kidney transplant. This usually occurs because the kidneys are (or soon will be) unable to adequately perform their normal functions, including removing waste products from the blood. This is called kidney failure. At this point, people will need to go on dialysis and eventually need a kidney transplant. Sometimes, some people with Alstrom syndrome cannot get a kidney transplant. This may be because they are morbidly obese or have problems with their heart (cardiomyopathy) or uncontrolled diabetes.

A kidney transplant is a serious procedure that carries significant risks and requires the patient to take certain medications to suppress their immune system for the rest of their lives. Patients should talk to their physicians, including a kidney specialists, about the risks involved in a kidney transplant.

Kidney transplants have been successful in some people who have Alstrom syndrome. The National Kidney Foundation is a nonprofit organization that has information on the kidney, kidney diseases and kidney transplants.

References
  • Alstrom syndrome. The National Organization for Rare Disorders website. Accessed February 23, 2021. https://rarediseases.org/rare-diseases/alstrom-syndrome/
  • Alstrom Syndrome International. (2013). Alstrom Syndrome Handbook: A Guide to Understanding, Managing, and Treating Alstrom Syndrome. Retrieved February 23, 2021 from https://www.alstrom.org/wp-content/uploads/alstrom-syndrome-handbook.pdf

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