Alstrom Syndrome

What is Alstrom Syndrome?

This is a very rare syndrome affecting numerous systems of the body. It is also referred to as ALMS. Lots of the symptoms and signs of this syndrome start in early childhood or infancy, although certain symptoms do not appear until later in life.


The syndrome is differentiated by a progressive loss of hearing and vision, a type of heart problem that enlarges as well as weakens the heart muscle – referred to as dilated cardiomyopathy. Other problems with health can be Type 2 diabetes, obesity as well as short stature.

This syndrome may also cause serious or life-threatening problems medically involving the kidneys, liver, lungs and bladder. Certain individuals with this syndrome also have a skin problem recognized as “Acanthosis nigricans” which causes the skin located in creases and folds of the body to be velvety, dark, and thick.

The symptoms and signs of this syndrome differ in severity and not all individuals with this syndrome will have all of the characteristic features of the disorder.

Symptoms

Symptoms of this syndrome consist of:

  • Dark patches of skin or “acanthosis nigricans”
  • Blindness or severe visional impairment in infancy
  • Deafness
  • Obesity
  • Impaired functioning of the heart which might lead to heart failure
  • Slowed growth
  • Progressive kidney failure
  • Symptoms of childhood-onset or Type 2 diabetes

The eyes of those individuals who have this syndrome hurt because of light that is too much. There is skin in the back of every eye called the retina. The retina has nerves that receive the light from the pupil. They are called cones and rods. They then send these vision messages to the brain. When individuals have this syndrome, the cone and rods stop working. The individuals may see less and less as they grow older. They have time to get use to seeing less since their vision changes slowly.

The eyes of individuals with this syndrome move quickly even when they do not want to move them. This is referred to as nystagmus

Occasionally, the following may also occur:

  • Hypothyroidism
  • Gastrointestinal reflux
  • Dysfunction of the liver

Some interesting facts pertaining to symptoms include:

  • In 60% of individuals, heart failure takes place in the 1st few weeks of birth or during the onset of adulthood.
  • Vision difficulties and sensitivity to light is seen in 100% of cases that start in the first 15 months after birth and gets progressively worse until adulthood.
  • Obesity in all cases will become obvious by the 5th year of age.
  • In 30% of cases, the individual will have difficulties with learning.
  • In half of all cases, there are delays developmentally.

Causes

This syndrome is caused by a mutation in the ALMS1 gene. This gene offers the instructions for making a protein which is polypeptide chains, whose function is not known. Mutations in this gene probably lead to the creation of an abnormally short, non-functional version of the ALMS1 protein. These chains are typically on hand at levels that are low in the majority of tissues, so a loss of these chain’s normal function might help clarify why the symptoms and signs of Alstrom syndrome affects multiple areas of the body.

This condition is inherited in an “autosomal recessive” pattern that means both copies of the gene in each cell have mutations. The parents of individuals with an autosomal recessive condition each hold one copy of the gene that is mutated, but classically these parents don’t show signs or symptoms of the condition themselves.

Diagnosis

The diagnosis of this syndrome is based on fundamental clinical indications that develop throughout infancy, childhood as well as young adulthood.

These features that develop as the individual age consist of the following:

Major Features:

  • Cone-rod degeneration jointly with secondary “nystagmus” and light sensitivity/photophobia – develops during the 1st year of life.
  • Obesity – mostly with a BMI larger than 25 or larger than the 95th percentile, grows in early childhood.
  • Progressive bilateral sensorineural hearing impairment – normally develops between 1 year and 10 years of age, but onset may be variable. This hearing destruction is preliminary in the range of upper frequencies.
  • Dilated cardiomyopathy – onset in infancy or restraining cardiomyopathy in teens and adults increases in more than 60% of individuals.
  • Pulmonary diseases – these range from many bronchial infections to pulmonary hypertension as well as pulmonary fibrosis.
  • Type 2 diabetes – This diabetes is insulin resistance and varies from too much insulin in the blood to glucose intolerance to Type 2 diabetes, dependent on the age of the individual. Type 1 diabetes may begin in childhood or teen years.
  • Hepatic disease – unpredictable, ranging from raised enzymes to cirrhosis as well as liver failure. Spleen and liver enlargement, and wide-ranging fibrosis can develop.
  • Renal disease – progressive; severity of renal problems is highly variable.

Minor Features include:

  • Dental abnormalities
  • Hypothyroidism
  • Flat feet
  • Urological dysfunction
  • Developmental delay

Treatment

There is no precise treatment for this syndrome. Rather treatment for symptoms may include:

  • Diabetes medication
  • Heart medications
  • Hearing aids
  • Thyroid hormone replacement

Prognosis

The following are likely to develop which make the prognosis not good unless under full time medical management:

  • Permanent blindness
  • Deafness
  • Type 2 diabetes

Liver and kidney failure can progressively get worse.

Life Expectancy

The life span for those with this syndrome vary rarely exceeds 40 years. There is no precise therapy for Alstrom Syndrome, but with early diagnosis and intervention may moderate this progression of the disease symptom as well as other diseases that can develop and improve the longevity as well a quality of life for those with this syndrome.

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