At Patient Worthy, we are dedicated to the covering the latest stories about rare diseases that appear in the news cycle. While this is an important part of our mission and is central to our activities, the fact remains that there are thousands of rare diseases out there, and a lot of them don’t make the news on a regular basis.
Indeed, some rare diseases tend to get a lot of the spotlight in a field that is already lacking in awareness as a whole. Diseases that haven’t seen a lot of new research or drug development are often not part of out regular content. This can understandably leave patients with these illnesses feeling left out. We are trying to counter this trend with stories that discuss less well known diseases.
Today, we will be talking about Alström syndrome. We have had a few stories about it, but if you want to get a good handle on understanding this illness, this article can serve as a resource.
Introduction
Alström syndrome, which is occasionally referred to as Alström-Hallgren syndrome, (ALMS, or ALSS) is a very rare genetic disorder that can affect several body systems. It can often be confused with Bardet-Biedl syndrome, which presents very similarly; however, symptoms tend to appear earlier in Alström syndrome. However, when symptoms first appear can vary greatly; sometimes they appear quite early in life, but in some cases they do not become apparent until the adult years. The disease begins in early childhood; characteristic symptoms include obesity and hearing/vision issues.
Cause
This disorder is caused by mutations affecting the ALMS1 gene. The illness is inherited in an autosomal recessive manner, meaning that someone must have two copies of the mutation to be affected. Alström syndrome is usually diagnosed with a combination of genetic testing, clinical data, medical history, and family history.
Symptoms
Early symptoms include obesity, heart disease, and difficulty with vision and hearing. Symptoms vary on a case-by-case basis. Complications such as diabetes, kidney dysfunction, and liver problems may develop over time. Other symptoms of Alström syndrome include reduced hormone levels, chronic ear infection or inflammation, increased skin thickness and pigment, severe overeating and weight gain, short stature, elevated lipids in the blood, and fatty liver. Complications involving the liver, lungs, bladder, and kidneys can be life-threatening.
Treating Alström Syndrome
Treatment is symptomatic and varies depending how the disease presents. Options many include specially tinted glasses to counter vision issues, hormone therapy, hearing aids, ACE inhibitors, and kidney or heart transplant. Prognosis really depends on how potential liver, kidney, and heart issues progress; early treatment and intervention is ideal.
Click here to learn more about Alström syndrome.
