Alström Syndrome Scientific Workshop Morrisburg Ottawa 2001

Endocrinology

- Insulin resistance, impaired glucose tolerance and type 2 diabetes

Insulin Resistance May be a ubiquitous characteristic of the syndrome from infancy, and is frequently associated with acanthosis nigricans.

Impaired Glucose Tolerance indicates progression to early diabetes (ref WHO classification).

Type 2 Diabetes represents significant reduction in insulin secretion and risk of microvascular complications (UKPDS www.dtu.ox.ac.uk). A progression of degree of glucose metabolism is variable and may not be related to degree of obesity.

Treatment - as reduced sugar and calorie intake and increased physical activity both enhance insulin sensitivity, these are essential in Alström syndrome

First-Line Drugs - Metformin and healthy diet and exercise are established therapies for early type 2 diabetes mellitus and may well prevent progression of IGT. Recommended safety guidelines for liver and renal function essential (UKPDS and Tuomehlito and U.S. Diabetes Prevention Programme).

Additional Therapy – Sulphonylureas and insulin have been employed but the insulin resistance may limit their effectiveness.

Hypertriglyceridaemia – The mechanism of this may vary. When severe in Alström syndrome it may not be resolved by weight control and tight glycaemic control. High dose statin treatment, maintaining hydration, and possibly fish oil can be considered to prevent pancreatitis.

All these treatments must be given in accordance with current recommended safety guidelines with special emphasis on liver, renal, muscle and cardiac function.