Surgery and Alström Syndrome
Blindness due to retinal degeneration and sensorineural partial hearing loss are virtually always accompanied by obesity and insulin resistance. Other manifestations such as infant and/or adult cardiomyopathy, kyphosis and pulmonary fibrosis are variable in occurrence and severity. This combination of cardiorespiratiory changes can predispose to unexpectedly severe hypoxia during episodes of infection or post operatively. Metabolic disturbances can include hypertriglyceridaemia, and insulin resistant diabetes. The severity and responsiveness to treatment of hyperglycaemia is heterogeneous, just as in adult type 2 diabetes as such. A few patients require u 500 insulin in very high doses long term, but many respond to Metformin and/or Glitazones providing cardiac and renal function are good. Hypertriglyceridaemia if severe(>10mmol/l) will respond acutely to fasting and long term to NIASPAN.
In preoperative assessment therefore we would advise:
- Echocardiogram
- Pulse oximetry before and after exercise
- Blood glucose
- Serum triglycerides
- Renal and hepatic function tests
Perioperatively and postoperatively:
Very careful monitoring of heart and oxygenation until fully recovered and ambulant. Monitoring of blood glucose – levels of both blood glucose and serum triglycerides normalise in 24-48 hrs during fasting and do not usually require intravenous insulin. NB Photophobia and nystagmus can be troublesome for Alstrom persons in bright lighting.
Dr R B Paisey, Cons Physician Torbay Hospital For Alström Syndrome UK