Medical Treatments which have been useful in Alström syndrome
- General
- Maintain good mobility and exercise, eg swimming, gym, walking (with buddy or dog).
- Nutrition
- 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
- Heart
- Renal
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
- Heart
- Bladder
- Kidney
- Liver
- Stomach and Bowel
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.
Severe reflux oesophagitis unresponsive to high dose proton pump inhibitor treatment has been successfully treated with laparascopic fundal placation.
Two cases of caecal volvulus requiring open abdominal surgery have occurred both successfully recovered.
Endocrinology
Guidelines and rationale for treatment of endocrinological disorders and diabetes occurring in Alström syndrome