Alström syndrome (AS), also called Alström–Hallgren syndrome, is a very rare autosomal recessive genetic disorder characterised by childhood obesity and multiple organ dysfunction. Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.It is caused by mutations in the gene ALMS1, which is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. At least 239 disease-causing mutations in ALMS1 have been described as of 2015. Alström syndrome is sometimes confused with Bardet–Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet–Biedl syndrome tends to have later onset in its symptoms, includes polydactyly and is caused by mutations in BBS genes.There is no cure for Alström syndrome. Treatments target the individual symptoms and can include diet, corrective lenses, hearing aids, medications for diabetes and heart issues and dialysis and transplantation in the case of kidney or liver failure. Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50.At least 900 cases have been reported. Prevalence is fewer than 1 in 1,000,000 individuals in the general population, but the disorder is much more common in Acadians, both in Nova Scotia and Louisiana. It was first described by Swedish psychiatrist Carl-Henry Alström and his three associates, B. Hallgren, I. B. Nilsson and H. Asander, in 1959.
These drugs are taken by mouth daily before each meal and could cause a drop in blood sugar. Metformin (biguanide): decreases the amount blood sugar being released by the liver and by stimulating the cells within muscles to take up blood sugar. Taken twice daily. Thiazolidinediones (rosiglitazone and pioglitazone): taken to help insulin work more efficiently in muscle and fat cells causing the liver to release less glucose. Is associated with heart failure. Dipeptidyl peptidase IV (DPP-4) inhibitors (sitagliptin): helps with improving blood sugar levels by decreasing the action of an enzyme breaking down GLP-1 (lowers the blood sugar level). Injected diabetes medicine: taken by an injection into the fat below the skin. Sometimes referred as subcutaneous injections. Some of these medications include the following:
Pramlintide (Symlin): is an Amylin agonist. It acts centrally (via the brain) to reduce food intake and blood sugar. It is most commonly used at mealtimes by people with type 1 and type 2 diabetes. Exenatide (Byetta): synthetic form of exendin-4 ( a GLP-1 receptor agonist that increases secretion of insulin, decreases the secretion of glucagon from the pancreas and reduces food intake). Cholesterol-lowering medications: is necessary when cholesterol levels are high. HMG-CoA reductase inhibitors, also called "statins," effectively lower levels of low-density lipoprotein, cholesterol and triglycerides. High-dose nicotinic acid (niacin) may also reduce cholesterol levels. Heart medications: Angiotensin-converting enzyme (ACE) inhibitors, diuretics, digoxin and beta-blockers may help with the management of cardiomyopathy and heart failure. Prognosis
A prognosis for Alström syndrome is complicated because it widely varies.