A Case of Late Diagnosis of Alström Syndrome

Sebastian Beck, M.D.
Centro Genética Cliníca, Porto, Portugal

Clinical History:

T. is a 31-year old young man with Alström Syndrome. First signs were noted at age of 2 years when he obviously developed progressive vision loss and adipositas. His memories of many visits to hospitals and doctors are traumatic. Indeed, no help could be offered during all these years. Since age of 11 years, he lived with the diagnosis “atypical Bardet- Biedel-Syndrome”. Although this diagnosis could have foreseen the development of diabetes mellitus, this complication started unexpectedly at age 15. Completely unexpected were also the developments of acute pancreatitis, (at age 19 and 25) and starting hearing loss (at age 24). These experiences underlined his grief and scepticism of medical care. As a consequence he threw away all medical documentation at age 25 and refused medical help.

After accurate diagnosis of Alström Syndrome and comparison of all known complications and symptoms with his clinical history, severe testosterone insufficiency was diagnosed. As a consequence he had not reached puberty. Immediately initiated therapy of testosterone substitution was too late to provoke puberty, but other beneficial effects, such as better mood, better control of diabetes mellitus, better control of hypercholesterinemia, justify continuation of the substitution therapy. Correct diagnosis and knowledge about clinical features of Alström Syndrome allow more consequent vigilance of cardinal symptoms, such as heart insufficiency and metabolic parameters. Another direct consequence of the correct diagnosis was a more trusting relationship between the patient and medical professionals.

Conclusion:

Genetic diagnostics sometimes has the stigma of being of scientific interest only, as the diagnosis in many cases cannot offer a possible cure. The present clinical history is an example against this pessimistic view: An accurate diagnosis of a genetic disease leads to secondary beneficial consequences even in absence of a cure for the underlying genetic defect.

Acknowledgements:

Dr. Richard Paisey and Debbie Hodge for concrete instructions on therapy improvements.

I am grateful to Alstrom Syndrome International (ASI) for making medical information available, for giving the patients the possibility to contact each other and for financial support of this patient’s participation at the 4th World Alström conference in Morrisburg, Canada.

Alström Syndrome Canada provided a financial donation, which made the expensive lipid-lowering therapy more affordable for the family.