Alstr?m syndrome

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  

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.

Treatment  
There 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. Hypothyroidism can be treated with thyroid hormone replacement.

Support Groups 

Alstr?m Syndrome International
14 Whitney Farm Road
Mount Desert, Maine 04660

Expectations (prognosis) 

Permanent Blindness and deafness is likely to develop. Type 2 diabetes mellitus develops. Kidney and liver failure may progress.

Complications 

Complications related to Diabetes mellitus can occur. Impaired heart function, if untreated, can lead to fatigue and Shortness of breath. Diabetes and High Cholesterol increase the risk of coronary artery disease.

Calling your health care provider 

Call your health care provider if you suspect symptoms of Diabetes mellitus such as increased thirst and urination. Seek medical attention promptly if you suspect that your infant or child cannot see or hear normally.

Johns Hopkins patient information

Last revised: December 7, 2012
by Mamikon Bozoyan, M.D.

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All ArmMed Media material is provided for information only and is neither advice nor a substitute for proper medical care. Consult a qualified healthcare professional who understands your particular history for individual concerns.