Frequently Asked Questions

Answers have been kindly provided by:

Dr Leslie Biesecker, MD
National Institutes of Health
National Human Genome Research Institute
Laboratory for Genetic Disease Research
Human Development Unit
49 Convent Drive Room 4A80
Bethesda, MD 20892-4472

How is Proteus Syndrome diagnosed?
The diagnosis of PS is a very difficult one, especially in infancy. Because the disorder is so variable and there is no laboratory test, it is diagnosed on a combination of clinical findings. In many situations, it may be impossible to confidently make the diagnosis. Many persons carry several other diagnoses before they are given the PS diagnosis. In contrast, it is now clear that a significant number of people who do carry the PS diagnosis do not have it. Both of these issues emphasise the difficulty of making the diagnosis.

I have just found out that my child has PS, what do I do first?
First, find a general doctor who you have a high confidence in to act as advisor or case manager. This could be a paediatrican, GP or clinical geneticist. Orthopaedics should get involved early on to get acquainted with the child from an early age. Beyond that, the evaluations should be symptom driven.

Are there any annual checkups that I should look into?
PS should be treated symptomatically and individually. Annual examinations are a very good idea because the disorder is progressive, you will want to keep a track of it.

Can adults with PS have children?
There are no confirmed cases of PS where it has occurred twice in the same family. If the theory about PS is correct, we would not expect this to happen very often, if at all. Because this disorder is rare, there are few patients to base this on. In the end, decisions about reproduction in people who have, or are at risk for, a potentially inherited disorder are personal and private.

I have a child with PS, will future children have it too?
There are no known instances where the diagnosis of Proteus syndrome has been confirmed by an expert and there has been more than one person affected in the family. The theory about Proteus syndrome suggests that this should be true. We advise families that the risk of recurrence is most likely the same as the risk for a family who does not have a person affected with Proteus syndrome, which is probably less than 1 in a million. We also believe that an adult with Proteus has the same low risk of having an affected child. Although this appears to be true, it must be borne in mind that Proteus is a rare disorder, so no one has enough experience to be certain of these estimates. However, there is nothing to suggest they are incorrect.

Did I do something wrong in pregnancy?
There are no factors in common among moms who have had a child with Proteus that would suggest that something in pregnancy caused the baby to be affected. Also, the incidence of Proteus seems to be the same all over the world, and there are no prenatal factors that could cause such a rare disorder and be common to so many people around the world.

Is Proteus Syndrome life threatening?
This is unknown. From reading medical articles, it appears that there are many more affected children than adults, consistent with possible early mortality risks. Such estimates are frequently wrong as there are other potential explanations. However, there are a couple of factors that suggest the risk may be real. First, there are a number of pateints with Proteus who have had tumors, and some of those have been serious. Second, there are a number of persons with Proteus who have died from blod clots that started in the legs and then broke free and went to the lungs, causing death. We do not know how often either of these happen, but it is possible that one of these may cause there to be fewer adults than children. For details on the issue of blood clots, please contact us regarding the article in the February 2000 edition of the U.S. Proteus syndrome foundation newsletter. Insofar as the tumor issue is concerned, we do not have enough evidence that the risk is real nor do we see a sufficiently consistent pattern of tumors to recommend specific screening. For the time being, regular medical checkups will have to suffice. We are well aware that "iffy" information like this is at best unsatisfactory, and at worst frightening and frustrating. We and others are working hard to gather information through clinical research studies to try to answer these questions in a more clear manner.
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