Friday, August 25, 2006

Loeys-Dietz Syndrome

Rarely is a new diseases discovered in this day and age, much less a full blown syndrome. However, researches reported in the 24th August edition of the New England Journal of Medicine a new syndrome called the Loeys-Dietz syndrome named, obviously enough, after the two person who discovered it. Dr Dietz is from John Hopkins Hospital and Dr Loeys is from Ghent Hospital, Belgium.

The syndrome comprises the features of aortic aneurysm, widely spaced eyes, split uvula and easy bruising or abnormal scars. They all have a genetic mutation defect in the TGF-beta receptor 1 and 2 (TGFBR1or2). The test for this genetic mutation is commercially available. This syndrome has similarities to Marfan's Syndrome and also Erlos Danlos Syndrome.

It is very important to make the diagnosis because patients (affects both males and females) with this condition run a high risk of death from Aortic dissection, at a young age, average age of death is about 26 years. What is more important, is that if diagnosis is made early, the patients do well with surgical repair. It is therefore very important to pick them up early, in order to avoid premature death.

Early reports also seem to suggest that the use of Losartan (an ARB), may help to slow down the progression of the disease. This was shown in animal experiment. I wonder if the other ARBs available to us like valsratan, ibesartan, cansesartan or telmisartan, will do the same.

The other surprising feature is that it is quite common. The authors claim to have seen one or two families a week with this condition. I certainly have not seen one myself. Maybe it is because of lack of awareness. I have seen a young man of 30 with dissection of the aorta who died after successful aortic aneurysm resection in USA. I presume he does not suffer from the Loeys-Dietz syndrome. I have also never ordered a genetic mutation test for the TGFBR1or2 .

This article is written perhaps to remind us to be on the lookout for a young male or female, with wide spaced eyes, a split uvula, and easy bruising. If available to you, please send for a genetic mutation test for the TGFBR1or2, to confirm the diagnosis. You may just have save a life if you did. Let us all look out for this new Loeys-Dietz syndrome.

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