Alström Syndrome Features a Large List of Potential Symptoms

Alström syndrome is a fascinating and incredibly rare disease. This genetic disorder is caused by a mutation in the ALMS1 gene. The mutation in this gene can result in development issues for a specific protein. This protein is present in many tissues throughout the body. Without it functioning normally, additional conditions can occur. 

The number of conditions that function as symptoms for Alström syndrome is staggering. Since it can occur in so many parts of the body, so many different issues can arise from it. Alström syndrome is also incredibly rare. According to the US National Library of Medicine, over 900 people have been reported to have Alström syndrome. Since it’s so rare, it can take some time to diagnose. Read on to learn about some of the large number of symptoms, and how it’s possible to treat so many issues at once. 

Alström Syndrome Symptoms

Due to the way that this syndrome works, the potential symptoms that people suffer from is quite large. Since it can affect almost any part of the body, the symptoms can appear in almost any part of the body. The severity can really vary as well. Some of the potential signs, symptoms and conditions that go with Alström syndrome include: 

• Type 2 Diabetes - It’s common for type 2 diabetes to go along with Alström syndrome.
• Hyperphagia - People often feel like they need to consume food consistently. Always feeling hungry makes it difficult to get proper nutrition. 
• Obesity - The previous two symptoms often go hand in hand with this one. Hyperphagia can result in incredibly rapid weight gain, and the resistance to breaking down sugars from type 2 diabetes can result in very quick creation of fats. 
• Hyperlipidemia - Considering the previous symptom, it’s not surprising that many people suffer from elevated levels of lipids (fats) within the bloodstream. 
• Vision Problems - There are several issues which can occur, but cone-rod dystrophy is very common, as is suffering from cataracts. 
• Hearing Problems - Again, the issues can vary. Many people have what’s known as progressive sensorineural hearing loss, which occurs in both of the ears. Other people may have some fairly chronic infections in the middle ear. Chronic inflammation can also occur. 
• Heart Disease - Suffering from dilated cardiomyopathy is common. This causes the heart to become enlarged and much weaker. 
• Short Stature - It’s common for people to not reach full height with their growth. 
• Liver Disease - Fatty liver disease is common. This can lead to more dangerous liver problems and potential liver failure as well. 
• Hormone Reduction - Both men and women can find that hormone production from the ovaries or testes is greatly reduced. 
• Asthma - Not quite as common as many of the others, asthma is actually just one of the potential issues that can occur within the lungs. 
• Skin Issues - The skin can sometimes alter color. It can also thicken in a sort of “velvety” way. This is known as acanthosis nigricans. 
• Kidney Issues - It’s possible to develop kidney issues which may result in full kidney failure. 

There are a wide variety of other symptoms that are experienced by some percentage of people who have Alström syndrome. Speaking with your doctor is one of the only ways to diagnose this very rare disease. 

Alström Syndrome Treatment

Treatment comes to each patient in a very individualized way. No two people seem to have quite the same symptoms, so their treatment is going to vary based on those symptoms. In most cases, and entire team of specialists may be required to come up with a treatment plan. 

Typically, treatment can include medications for some of the conditions and symptoms and lifestyle changes to try to minimize their impact. In some cases people may require some sort of hormone therapy or medical equipment (special glasses for example) to help manage a specific symptom. Doctors will provide a way to monitor for addition symptoms that might be occurring as additional symptoms appear.