Rare Endocrinology News
Spotlight On
Alström syndrome
Alström syndrome is a very rare autosomal recessive genetic disorder characterized by childhood obesity and multiple organ dysfunction
Prevalence
1-9 / 1,000,000
Age of Onset
ICD-10
E34.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Characterized by childhood obesity and multiple organ dysfunction
FACT
Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy
FACT
Endocrine disorders typically also occur, such as hypergonadotro-phic, hypogonadism, and hypothyroidism
FACT
Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50
FACT
Alström syndrome is caused by mutations in the ALMS1 gene
Interest over time
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Common signs & symptoms
Vision abnormalities; specifically cone-rod dystrophy and cataracts
Progressive sensorineural hearing loss in both ears and chronic infection or inflammation of the middle ear
Heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy)
Excessive eating (hyperphagia) and rapid weight gain leading to obesity
Insulin resistance leading to high levels of insulin in the blood (hyperinsulinemia) and type 2 diabetes mellitus
Elevated levels of fats (lipids) in the blood (hyperlipidemia)
Short stature
Skin findings including abnormally increased coloration and “velvety” thickening of the skin in certain areas of the body (acanthosis nigricans)
Current treatments
There is no specific treatment for Alström syndrome. Treatment is focused on managing the symptoms present in each individual. This may involve a team of specialists including but not limited to: pediatricians, cardiologists, audiologists (hearing specialists), ophthalmologists, endocrinologists, and orthopaedists. Treatment may include: