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ALSTROM SYNDROME
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ALTERNATE NAMES
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ALMS; ALMS1; Alstrom-Halgren Syndrome; Alstrom syndrome 1; Alström syndrome; Alstrom’s
syndrome; AS
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DESCRIPTION
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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).
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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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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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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Childhood truncal obesity;
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Insulin resistance and hyperinsulinemia;
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Short stature in adulthood;
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Progressive pulmonary, hepatic, and renal dysfunction.
ICD-9: 759.89
ICD-10:
Q89.8
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| 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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Complications from diabetes,
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Worsening of kidney and liver function, and
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| 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.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Thyroid function studies;
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Hearing examinations; and
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING |
REMARKS
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Meets
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110.08 B
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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