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Surgery and Alström Syndrome

Blindness due to retinal degeneration and sensorineural partial hearing loss mean that special preparations are essential to care for Alström patients undergoing surgery in order to keep them well informed, active pre-operatively and able to access prompt rehabilitation post operatively. 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.

It is necessary to plan for intensive care following surgery and treat chest infection vigorously. 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 insulin preoperatively but in many cases blood glucose levels normalize during fasting especially if intravenous glucose is minimized.

In preoperative assessment therefore we would advise:

  • ECG and Echocardiogram
  • Anaesthetic assessment of airway-kyphosis, small airways and difficult venous access can be troublesome for intubation and cannulation
  • Anaerobic threshold bicycle test
  • 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 Alström persons in bright lighting.

Information source: Dr R B Paisey, Cons Physician Torbay Hospital 

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Media Review: August 2015
Next Review: August 2017