Alstr?m syndrome
Key points
- Alstr?m syndrome is an inherited disease characterized by progressive Blindness, deafness, early-onset Type 2 diabetes mellitus, and Obesity.
- Alstr?m syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected.
- Treatment There is no specific treatment for this syndrome.
- Permanent Blindness and deafness is likely to develop.
Definition
Alstr?m syndrome is an inherited disease characterized by progressive Blindness, deafness, early-onset Type 2 diabetes mellitus, and Obesity. Intelligence is not affected.
Causes, incidence, and risk factors
Alstr?m syndrome is an autosomal recessive inherited disorder, which means that a person must inherit a copy of the defective gene from both parents in order to be affected. It is extremely rare, but is more common in Holland and Sweden than in the United States.
The mutated gene, ALMS1, was recently identified, but it is not yet known how this gene causes the disorder.
Symptoms
- Blindness or severe vision impairment in infancy
- Symptoms of childhood onset of type 2 diabetes
- Obesity
- Deafness
- Dark patches of skin (acanthosis nigricans)
- Growth retardation
- Impaired heart function (cardiomyopathy), which may lead to heart failure
- Progressive Kidney failure
Occasionally, the following are also associated:
- Hypothyroidism
- Liver dysfunction
- Small penis
- Gastrointestinal reflux
Signs and tests
- The eyes are examined by an ophthalmologist (standard ophthalmic examination) and show reduced visual ability.
- Blood tests, such as a chem-20, may show an elevation of serum triglycerides and hyperglycemia (high blood sugar).
- Tests evaluating thyroid function may be abnormal (high TSH, low free T4).
- Hearing tests may be abnormal.
- Tests of heart function (echocardiogram) may be abnormal.
TreatmentThere is no specific treatment for this syndrome. Diabetes can be treated with oral medications, insulin, or a combination of both. Cholesterol can be reduced with medications. Hearing can be augmented with hearing aids. If heart abnormalites are present, medications such as ACE inhibitors, beta-blockers, or spironolactone can be given to improve heart function. can be treated with thyroid hormone replacement.
Written and revised by
Gerald Hurowitz, M.D.
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