Learn More About The Effects of Alström Syndrome

Many medical conditions that people suffer from are clear and concise. It affects one area of their body, and that’s it. However, in some cases, a disease or disorder can affect many different body systems. These types of disease can seemingly be very difficult to understand and grow to recognize. Alström syndrome is one such condition. 

Alström syndrome is a rare genetic condition. It tends to begin during infancy and comes on gradually instead of all at once. People who suffer from Alström syndrome will find that’s not the only condition they suffer from. Right along with it is many problems like severe obesity, type 2 diabetes and weakened heart muscles. Considering the potential issues, it’s good to learn more about Alström syndrome so you can recognize the signs. 

Causes of Alström Syndrome

Alström syndrome is a condition which is inherited from parents. Specifically, it comes from the ALMS1 gene. This gene is responsible for creating a protein that is often found in low levels of many different tissues throughout the body. This can help explain why so many different parts of the body can be affected by Alström syndrome. 

Both parents need to pass on the gene. If only one of the parents has it, then children have the potential to be a carrier and pass the gene on to future parents. This is a very rare disease with only around 1000 cases diagnosed in the world, so this gene mutation is not incredibly common. 

Symptoms of Alström Syndrome

As mentioned, the symptoms list for Alström syndrome can be extensive.  In fact, the list here won’t even include all of the symptoms. This list will include many of the most common and some of the more serious symptoms that can be dealt with. Symptoms include: 

  • Obesity - There are several links to excessive weight gain and obesity. Many people suffer from hyperphagia (compulsive excessive eating), while others struggle with breaking down sugar in the bloodstream. This leads to the next symptom. 
  • Diabetes - Specifically, Type 2 diabetes is a symptom. The body’s cells develop a resistance to the hormone which helps to break down sugar in the body. 
  • Vision Problems - There are a few different vision issues that can occur. Cataracts are common, as is suffering from cone-rod dystrophy. 
  • Hyperlipidemia - With this condition, people have highly elevated levels of fat in their bloodstream. 
  • Hearing Loss - This can be a progressive hearing loss in both ears, but also can take the form of infections of inflammation occurring in the middle ear portion. 
  • Heart Issues - It’s common to suffer from heart disease. Dilated cardiomyopathy is common in particular. 
  • Liver Problems - Fatty liver disease is common and can lead to more dangerous forms of liver disease. 
  • Decreased Hormone Production - Both men and women may find that they are producing lower levels of gender specific hormones. 
  • Short Stature - For some people, they will find that their growth is stunted to some degree. 
  • Skin abnormalities - It’s common to find that skin thickens or discolors in certain areas of the body. 

Some of the other potential issues include asthma, photophobia, pulmonary arterial hypertension, respiratory insufficiency, alopecia, cirrhosis, depression, hyperthyroidism, obsessive-compulsive behavior, portal hypertension, precocious puberty, renal insufficiency, seizures and so many more! 

Treatment and Prognosis of Alström Syndrome

More than almost any disease and syndrome in existence, treatment is an individual affair for each person. This is due to the many different symptoms and conditions that may be occurring due to the existence of Alström syndrome. Treatment will likely be a cumulative effort. A team of specialists will likely be required to create the best possible treatment plan. It’s likely that lifestyle changes like diet and exercise will be required. Special glasses or hearing aids can be necessary. Medications can be important, while others use hormone therapy. 

The prognosis for Alström syndrome can be very different depending on the way it affects an individual. Early diagnosis and treatment will lead to appropriate management of symptoms. This can vastly increase the quality of life and life expectancy!

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