ALTERNATE NAMES

ALMS; ALMS1; Alstrom-Halgren Syndrome; AS; Alstrom Syndrome 1; Alström Syndrome; Alstrom’s Syndrome

DESCRIPTION

Alstrom syndrome is a rare condition that affects many body systems. Alstrom syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. This disorder can also cause serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Some individuals with Alstrom syndrome have a skin condition called acanthosis nigricans, which causes the skin in body folds and creases to become thick, dark, and velvety. The signs and symptoms of Alstrom syndrome vary in severity, and not all affected individuals have all of the characteristic features of the disorder. Alstrom syndrome is caused by mutations of the ALMS1 gene (2p13.1).

DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM CODING

Diagnostic testing: The diagnosis of Alstrom syndrome is made based on the clinical findings (signs and symptoms), medical history, and family history. Making a diagnosis is complicated by the variation in age of symptom onset from one individual to another. Genetic testing is not necessary to make the diagnosis of Alstrom syndrome, although it can be useful to confirm a diagnosis.

Other diagnostic tests include:

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  Vision tests;

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  Hearing tests;

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  Heart function testing;

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  Blood and urine testing for liver dysfunction and renal failure; and

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  Blood sugar levels to diagnose hyperglycemia, thyroid function, and triglyceride levels.

Physical findings: Individuals with Alstrom syndrome may have:

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  Cone-rod dystrophy;

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  Hearing loss;

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  Childhood truncal obesity;

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  Insulin resistance and hyperinsulinemia;

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  Type 2 diabetes;

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  Hypertriglyceridemia;

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  Short stature in adulthood;

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  Cardiomyopathy; and

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  Progressive pulmonary, hepatic, and renal dysfunction.

ICD-9: 759.89

ICD-10: Q89.8

PROGRESSION

Alstrom syndrome causes serious or life-threatening medical problems involving the liver, kidneys, bladder, and lungs. Many of the signs and symptoms of this condition begin in infancy or early childhood, although some appear later in life. Some children may experience delays in attaining developmental milestones, but intelligence is usually unaffected. Not all affected individuals have all of the characteristic features of the disorder.

Individuals with this condition are likely to develop:

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  Deafness;

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  Blindness;

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  Complications from diabetes;

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  Worsening of kidney and liver function; and

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  Developmental delays.

TREATMENT

There is no cure for this condition. There is treatment for the symptoms of diabetes, hearing and visual aids, heart medications, and thyroid hormone replacement.

Suggested MER for Evaluation:

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  Clinical history and examination that describes the diagnostic features of the impairment;

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  Blood and urine tests;

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  Thyroid function studies;

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  Eye examinations;

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  Hearing examinations; and

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  Genetic testing.

Suggested Listings for Evaluation:

DETERMINATION

LISTING

REMARKS

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