DefinitionAlström syndrome is a very rare disease passed down through families (inherited) that can lead to blindness, deafness, diabetes, and obesity.
Causes, incidence, and risk factorsAlström syndrome is inherited in an autosomal recessive manner. This means both your parents must pass on a copy of the defective gene (ALMSI) in order for you to have this disease. It is unknown how the defective gene causes the disorder.The condition is extremely rare. It is more common in Holland and Sweden than in the United States.
SymptomsBlindness or severe vision impairment in infancyDark patches of skin (acanthosis nigricans)DeafnessImpaired heart function (cardiomyopathy), which may lead to heart failureObesityProgressive kidney failureSlowed growthSymptoms of childhood-onset or type 2 diabetesOccasionally, the following can also occur:Gastrointestinal refluxHypothyroidismLiver dysfunctionSmall penis
Signs and testsAn eye doctor (ophthalmologist) will examine the eyes. The patient may have reduced vision.Tests may be done to check:Blood sugar levels (to diagnose hyperglycemia)HearingHeart functionThyroid functionTriglyceride levels
TreatmentThere is no specific treatment for this syndrome. Treatment for symptoms may include:Diabetes medicationHearing aidsHeart medicationsThyroid hormone replacement
Support GroupsAlström Syndrome International -- www.alstrom.org
Expectations (prognosis)The following are likely to develop:DeafnessPermanent blindnessType 2 diabetesKidney and liver failure may get worse.
ComplicationsComplications from diabetesCoronary artery disease (from diabetes and high cholesterol)Fatigue and shortness of breath (if poor heart function isn't treated)
Calling your health care providerCall your health care provider if you or your child have symptoms of diabetes such as increased thirst and urination. Seek medical attention promptly if you think that your child cannot see or hear normally.
ReferencesTorres VE, Grantham JJ. Cystic diseases of the kidney. In: Taal MW, Chertow GM, Marsden PA, et al, eds. Brenner and Rector's The Kidney. 9th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 45.