Just because a disease may be rare, doesn’t mean it can’t be devastating to the people it affects. Alström syndrome is an incredibly rare syndrome that affects people in a severe fashion. This rare genetic disease affects the creation of a protein found throughout the body. In turn, many different problems and symptoms can occur. When it comes to Alström’s syndrome, rare is very rare! Only around 1200 cases have been diagnosed worldwide, though some additional cases likely haven’t been diagnosed or reported. Making this condition more troublesome is the fact that it isn’t easy to diagnose. The wide variety of potential symptoms can send doctors heading the wrong direction. Symptoms can also start at various stages throughout a person’s lifespan. If you’re interested in learning more about this fascinating rare condition, continue reading. Learn how it’s caused, what kind of symptoms to look out for and how treatment may work.
Causes of Alström Syndrome
Alström syndrome is a genetic syndrome. This means that the genes inherited from parents are directly responsible for the syndrome. In this case, it is the ALMS1 gene that can cause Alström syndrome. This gene is responsible for the body creating a protein that appears in a small level in many of the tissues throughout the body. It’s this general usage that makes the symptoms so diverse in location throughout the body.
For a person to get Alström syndrome from their parents, they need to receive two copies of a mutated gene. This is known as an autosomal recessive pattern. Both parents are carriers, and have received one copy of the gene themselves. Their offspring have a 25% chance of receiving both mutated copies. 50% of the time, children will get one mutated gene and become a carrier, while 25% of the time, children will be completely unaffected.
Symptoms of Alström Syndrome
There are few conditions and syndromes that are more erratic in presenting their symptoms than Alström syndrome. Symptoms can present themselves early during infancy, or they can wait until someone is in the early stages of adulthood. Note that these are only some of the most common signs and symptoms. They include:
- Vision Problems - This is usually cataracts or cone-rod dystrophy.
- Dilated Cardiomyopathy - This is a type of heart disease. It weakens the heart muscle while enlarging it.
- Sensorineural Hearing Loss - This progressive problem can occur in both ears, while other chronic ear infections can occur in the middle ear area.
- Type 2 Diabetes - Blood sugar levels can be altered with cells forming a resistance to the hormone that breaks down sugars.
- Fatty Liver Disease - This common liver problem can also progress further to worse liver diseases.
- Hyperlipidemia - This is a condition in which the blood suffers from high levels of fats in the blood.
- Hyperphagia - This is a condition that causes a person to eat excessively and gain a large amount of weight. Inevitably this leads to the person becoming obese.
- Hypogonadism - This is insufficient hormones being produced by the ovaries or testes.
- Short Stature - People with Alström syndrome may end up not growing sufficiently.
As if those are not enough, it’s also possible for Alström syndrome to cause incredible dangerous medical problems with a person’s lungs, liver, bladder and kidneys as well.
Treating Alström Syndrome
Unfortunately, there’s no cure for people with Alström syndrome. Treatment has to be focused specifically around the type of symptoms they are experiencing. Since Alström syndrome will often affect infants, it’s likely that a pediatrician will work with a variety of specialists to design treatment plans. Since the symptoms are so diverse, the various treatments needed have to be compatible with each other. It’s not useful to have a treatment for one problem exacerbate a different symptom. Collaboration between specialists is the only answer.