Warning to Health Professionals
There is the potential, due to the cardio respiratory complications of the condition, for patients with Alström Syndrome to become hypoxic and rapidly deteriorate when suffering from undercurrent illness. We would therefore recommend that oxygen saturations should be part of the routine monitoring of these patients during any in-patient hospital stay. In addition it is important that any deterioration noted is reported for assessment by the relevant medical personnel.
Alström Syndrome can be accompanied by a number of inter-related changes which can compromise cardio respiratory function during acute illness particularly chest infection.
These changes include kyphosioliosis, mild pulmonary fibrosis and cardiomyopathy. It is therefore important to consider intensive oxygen therapy, early intensive care involvement and echocardiography when even borderline hypoxia occurs (oxygen saturation less than 95% on air) in the context of acute illness.
Medical Treatments which have been useful in Alström Syndrome
Maintain good mobility and exercise, eg swimming, gym, walking (with buddy or dog).
70 gram carbohydrate diet with modest intake of saturated fat.
- Type 2 Diabetes
- Metformin where cardiac and renal function are carefully followed
- Glitazones if no heart problem
Younger patients rarely require insulin, but some patients may have reduced insulin reserve (Post breakfast C Peptide in serum less than 1000 pmol/l) They often respond to standard doses of twice daily subcutaneous insulin.
High blood fats
Mildly raised serum triglycerides may respond to fibrates and statins combined but once serum triglycerides increase above 10 mmol/l nicotinic acid as Niaspan 3g nocte or Tredaptive may be required in adults with or without fibrate in the morning. Aspirin 75mg half an hour before the nicotinic acid will minimize flushing.
It is probable that there is some myocardial fibrosis in all cases. This can be subclinical into the fourth decade of life but long term ACE inhibition is indicated in nearly all cases, and many will have developed reversible heart failure in infancy with one third exhibiting cardiac dysfunction from teenage years.
As with the heart some fibrosis is common and can lead to progressive renal failure. Careful monitoring and treatment of hypertension is appropriate to minimise this progression.
Surgical Treatments possible in severe forms of complications
Severe cardiomyopathy has been improved with dual chamber pacemaker, both to override subtle dysrhythmias and improve coordination of the cardiac cycle. The place of cardiac transplantation is under review.
The incoordination between bladder and urine outflow (destrusor-urethral dyssnergia) can be helped by intermittent self catheterisation of the bladder and even more rarely may require ileal diversion.
Fibrosis in the kidneys may lead to renal failure. Renal transplantation in these circumstances has been successful.
Fatty liver is invariable in the syndrome and can rarely progress to significant fibrosis and portal hypertension. Variceal bleeding has required TIPS procedure in a small number of cases.
Stomach and Bowel
Severe reflux oesophagitis unresponsive to high dose proton pump inhibitor treatment has been successfully treated with laparascopic fundal placation.
Cases of caecal volvulus requiring open abdominal surgery have occurred both successfully recovered.
Guidelines and rationale for treatment of endocrinological disorders and diabetes occurring in Alström Syndrome.
Vitamin D Advice
In our experience, due to photophobia often people who are affected by Alström Syndrome will stay out of the sun to avoid the bright light. This could mean that they are not getting the recommended amount of vitamin D to remain healthy.
The NHS advice is that everyone should consider taking a daily supplement containing 10mcg of vitamin D. During the Spring and Summer months the majority of people should be able to get all the vitamin D we need from sunlight on our skin. So you may choose not to take a vitamin D supplement during these months. Please follow the link below to visit the NHS website for full information.
Media Reviewed: August 2015
Next Review: August 2017