Alstrom syndrome medical therapy

Use of red-orange tinted prescription lenses may reduce symptoms early in the disease phase when photodysphoria is significant. Instruction in the use of Braille, mobility training, adaptive living skills, and computing skills (including voice recognition and transcription software), and the use of large print reading materials while vision is still present are crucial.

Regular exercise and a healthy low calorie diet are recommended for weight control.

Angiotensinogen-converting enzyme (ACE) inhibitors, diuretics, digoxin, and possibly beta-blockers should be used in the treatment of cardiac failure.

Should be treated as in the general population unless heart failure and/or liver dysfunction are present. The diabetes mellitus is characterized by insulin resistance, but some individuals respond to a low-sugar, low-fat diet; exercise; and metformin. Glitazones are added to further reduce insulin resistance but must be avoided in the presence of active or treated heart failure. These treatments should be discontinued when the serum creatinine concentration exceeds 200 µmol/L or if cardiomyopathy is evident. Incretin analogues given subcutaneously, as in nonsyndromic type 2 diabetes, are successful in two thirds of cases.

Nicotinic acid derivatives can be helpful in long-term reduction of severe hypertriglyceridemia (>20 mmol/l) especially if pancreatitis has occurred and diabetes is absent or well controlled. Statins are unlikely to be effective but can be considered for long-term prevention of atherosclerosis in adults with low HDL, high LDL, and diabetes. Pancreatitis should be treated as in the general population.

• Gonadotropin and pituitary hormones should be assessed to determine if hormonal adjustments are necessary when the child approaches puberty.
• Testosterone is used to treat male hypogonadism to preserve sexuality, muscle strength, and bone health.
• Hypothyroidism is treated by thyroxine therapy.

If proteinuria is detected, use of enzyme ACE inhibitors may be considered.

Portal hypertension can be treated using beta-blockade and sclerotherapy of the esophageal veins. Banding should be done in order to prevent upper-GI hemorrhage from varices.

General activity, including breathing exercises, can reduce chronic hypoxia and improve well being. Coaching by an exercise expert may be necessary in order to achieve adequate spirometry results to determine the presence of obstructive airways disease.

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