Ahlstrom Syndrome(Synonyms: Alström or Alström-Hallgren Syndrome) Ahlstrom syndrome is one of several genetic syndromes that have obesity as one of its features. It was first described in 1959. Less than 1 in every 100,000 people are affected. The inheritance pattern is autosomal recessive, and the defective gene is ALMS1. Proteins made by this gene go to the primary cilium, causing it to function incorrectly. These people have obesity in the trunk which begins at ages 2-5 years old. The two hallmark symptoms are hearing loss and problems with the retina causing blindness. Males have small testes, but females have normal ovaries. Unlike other genetic syndromes associated with obesity, Ahlstrom syndrome patients have normal intelligence. A list of symptoms is below (not all symptoms may be present):
There is no cure for Ahlstrom syndrome. However, as problems arise or are predicted to occur, medicines and other therapies can be used to treat each one individually as best as possible.
It is important you
discuss any weight loss or exercise plan with your doctor. Only you and
your physician can decide what is best for you. Some people have
certain conditions that prevent them from doing all exercises, and goal
body weights may be different for different people. You need to discuss
all these things with your physician before starting any weight loss or
exercise program. This article was written by John Vickery, MD. References Fauci et al., Harrison's Principles of Internal Medicine 17th ed., ch 74 Endocrinol Metab Clin N Am 2008;37:733-751 Orphanet J Rare Dis. 2007 Dec 21;2:49
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