Alström Syndrome

What are the other Names for this Condition? (Also known as/Synonyms)

• ALMS (Alström Syndrome)
• Alstrom Syndrome
• Alström-Halgren Syndrome

What is Alström Syndrome? (Definition/Background Information)

• Alström Syndrome is a rare, genetically-inherited disorder affecting several organs of the body. It is characterized by obesity, diabetes, progressive vision loss, and progressive deafness
• Alström Syndrome is a congenital disorder that is reported more commonly in the Netherlands, Sweden, and among some isolated communities of the French Acadia and Pakistan
• Symptoms of the disorder can vary between individuals, even within the same family. They may range from seizures, delays in reaching developmental milestones, exaggerated responses when startled, progressive vision loss and deafness, among others 
• Treatment options for the disorder are usually focused on treating the symptoms and preventing them from getting worse
• Alström Syndrome is an inherited disorder, and hence, no preventive measures have been reported. Genetic counseling for prospective parents with the disorder, or who are carriers of the condition, is highly recommended
• Alström Syndrome is progressive in nature and therefore, the associated symptoms, such as diabetes, loss of vision and hearing, are likely to get worse over time

Who gets Alström Syndrome? (Age and Sex Distribution)

• Alström Syndrome symptoms are manifested during birth, early infancy, or during childhood. In some individuals, the onset of some symptoms is reported much later
• The condition occurs at approximately equal rates in males and females
• It is a very rare disorder with only about 1200 reported cases worldwide. Scientists believe that many cases go undiagnosed or may be misdiagnosed
• Many affected individuals are from the Netherlands and Sweden, as well as some isolated communities such from French Acadia and Pakistan

What are the risk factors for Alström Syndrome? (Predisposing Factors)

• Alström Syndrome is a genetic condition, and having a family history of the disorder is a significant risk factor for developing the condition

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Alström Syndrome? (Etiology)

Alström Syndrome is caused by mutation(s) in the ALMS1 gene, which codes for a particular protein. The exact function of the protein is currently not known.

• Scientists theorize that this protein may be involved in the assembly of microtubules and normal function of cilia
  • Microtubules are filament-like structures present inside cells that aid in cellular movement
  • Cilia are extracellular hair-like structures and play important roles in receiving and transmitting cellular signals, as well as movement
• It is believed that mutations in the gene cause a shorter version of the ALMS1 protein, which is not functional
• The disorder is inherited in an autosomal recessive pattern, in which an individual must possess both copies of the causative gene in the defective form in every cell of his/her body, for the disorder to be manifested. Typically, an affected individual inherits one defective copy from each parent, who are carriers of the disorder and themselves remain unaffected.

What are the Signs and Symptoms of Alström Syndrome?

The signs and symptoms of Alström Syndrome may vary among individuals, even among those belonging to the same family. Some common symptoms include:

• Progressive vision loss and progressive hearing loss 
• Dark patches of skin
• Obesity
• Cardiomyopathy
• Progressive kidney failure
• Slow growth
• Diabetes

Sometimes, other symptoms may also arise, including:

• Gastrointestinal reflux
• Liver dysfunction
• Hypothyroidism
• Seizures
• Delay in reaching developmental milestones
• An exaggerated response when startled

How is Alström Syndrome Diagnosed?

The diagnosis of Alström Syndrome is made on the basis of the following tests and exams:

• A detailed physical examination and an evaluation of one’s family and personal medical history
• Symptom assessment
• Vision and hearing exam
• Electrocardiography and echocardiography to check heart function
• Blood tests to check the levels of the following:
  • Blood glucose
  • Triglycerides
  • Thyroid hormone

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Alström Syndrome?

The potential complications of Alström Syndrome include: 

• Loss of vision
• Deafness
• Kidney failure, end-stage kidney disease
• Liver failure
• Shortness of breath and frequent fatigue due to worsening heart function
• Coronary artery disease, due to diabetes and high cholesterol levels

How is Alström Syndrome Treated?

Alström Syndrome cannot be cured. Therefore, the treatment options are geared toward addressing the symptoms and these may include:

• Medication for diabetes, to control blood sugar
• Medications to address heart problems
• Hearing aids and speech therapy
• Thyroid hormone replacement therapy
• Vision aids for improving vision

How can Alström Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Alström Syndrome, since it is a genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the disorder, genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited disorders such as Alström Syndrome
• Regular medical screening at periodic intervals with tests, and physical examinations are strongly recommended

What is the Prognosis of Alström Syndrome? (Outcomes/Resolutions)

• Alström Syndrome is a progressive condition, and therefore, those affected are likely to experience worsening of their symptoms (in some cases, this may be rapid)
• In individuals with the disorder, deafness, permanent blindness, and type-2 diabetes are likely to develop over the course of their lifetime

Additional and Relevant Useful Information for Alström Syndrome:

Alström Syndrome is named after Dr. Carl-Henry Alström. He described the condition in 1959 for the first time.