ME/CFS ウェブセミナー　第三弾　ME/CFSは、遺伝的な病気か

Web Seminar by Prof. dr. K. de Meirleir,

broadcast on November 16th, 2012

 

As is the case with many other complex diseases, there is a hereditary component. And we can infer this from the study by Dedra Buchwald in which she examined twins, where one of the twins had ME and the other one was healthy. Different types of twins were observed, both identical and non-identical.

This is an interesting study, but the result was that there was a weak genetic component - in the end there appeared to be no strong genetic component.

 

Other studies, which didn’t involve twins but compared ME patients to healthy people, show there are a lot of minor deviations in the genetic system. Several of these, say about fifty, can cause a predisposition to develop ME. But I don’t think this is a bigger factor than with other diseases such as certain types of cancer, MS, and other disorders. I think that, ultimately, when we consider the bigger picture, it wont be that important.

 

We ourselves researched what we call interleukin-17, a chemical substance produced by our own immune system. And we have found shifts there too, point mutations, in other words a change in one amino-acid, which occurs more often in ME patients. And many more will probably materialise, but as a clinician I don’t consider it to be that important. In the sense that the same applies to a lot of diseases.

 

One important thing that should be highlighted is the vitamin D metabolism.

We know that there are big differences in the receptors for vitamin D. And that for example there are quite a few differences in vitamin D receptors between Africans and people who live in Norway. This also has to do with the amount of sunlight present, so over thousands of years a selection among humans has taken place. In the end we all need vitamin D, not just for our calcium balance but also for our immune system.

 

A pre-selection has taken place in a certain direction. We have also researched this and we see there are also differences with regard to healthy people. Compared to the normal population, shifts have been observed, but again none of such significance to be able to say that this deviation occurs in 50% of ME patients.

So there are differences in susceptibility for certain matters, but in the end this is not dominant in ME in the way that this can be seen in, for example, other congenital disorders.

 

The airing of the web seminar ‘Is ME/cvs a hereditary condition?’ by Prof. Dr. Kenny de Meirleir on November 16th 2012 was followed by a live chat session. Most of the questions are related to his seminar.

 

 

Q&A

 

Q: Is it true that there are more immune afflictions found in one family like RA, Sarcoidosis and Hashimoto’s?

 

A: Yes, that seems to be true.

 

Q: But families exist in which the disease is present in more than one member. What factors determine this?

 

A: The same environmental factors (fungi) and infections and the same genetic predisposition.

 

Q: You say that there is a weak genetic component. Is it known which one and can it be eliminated?

 

A: In the study of twins by Dedra Buchwald (identical and non-identical twins in which one of the two was sick) they found only a weak genetic link. We don’t know which one, but different point mutations in, amongst others, the immune system, would seem to play a role in predisposition.

 

Q: How many patients get perfectly healthy children despite these factors? Is it possible to take precautions in order to protect the child during pregnancy?

 

A: The answer to both questions is: “We don’t know”. After successful treatment we don’t know of any ‘abnormal’ children.

 

Q: You say no ‘abnormal’ children have been born from successfully treated patients. But a lot of people don’t achieve this stage of healing or improvement. Based on which considerations would you give the go-ahead to conceive if a patient is not fully cured, keeping in mind the predisposition or contamination of the child?

 

A: To be able to care for a child and to have no contagious infections.

 

Q: Do you advise against breastfeeding?

 

A: No, but not for too long for the patient – often there is a drastic relapse between the 3rd and 6th month after giving birth (identical to MS).

 

Q: Is it useful to perform follow-up tests for babies or children of mothers with ME before they develop certain symptoms, and to try to support their immune systems to prevent the development of the disease or other physical problems?

 

A: Yes definitely, from the age of 18 months.

 

Q: Interesting, what does this follow-up/approach consist of?

 

A: This is evaluated for each case; ME is a clinical condition which needs an individual diagnosis and intervention adapted to the individual.

 

Q: What examination other than clinical manifestations could give an indication that ME plays a role in children?

 

A: Emotional instability, being less sociable, not waking up refreshed in the morning, a sudden setback in performance at school, …

 

Q: Is ME in fact no different from a deregulated immune system and does the infection you contract determine what disorder you get? How do you see this?

 

A: It is more complex than that and a publication is about to be published that will provide more clarity about this mechanism; but you are right, there is always a deregulated immune system. We think the infection one contracts does determine the evolution of the disease as well.

 

Q: Is it possible to have both ME and Lyme disease or is ME a kind of an umbrella covering different diseases like Lyme, Chlamydia Pneumoniae and infections yet to be discovered?

 

A: Lyme disease and ME can go together; ME is the effect on the various organ systems of such chronic infections.

 

Q: In the inflammatory disease ME/CFS, the traditional inflammation markers (CRP, sedimentation rate) are typically not raised. How is this possible? Would the new PLAC (Lipoprotein Associated Phospholipase A2) test be able to detect the inflammation?

 

A: Yes, probably. The research paper (including controls) is on its way.

 

Q: A neurological question. There also often seem to be abnormalities in the EEG results of patients with ME/CFS. Is this correct? However, neurologists do not recognize these aberrations in EEG results as abnormal. Is more known about the effects on EEG or are the outcomes too diverse?

 

A: Yes, micro-epileptic waves have been found; no, a Canadian neurologist/psychiatrist has done much research on this (Dr Flor Henry) using EEG in ME patients; he is the co-author of the so-called Canadian Consensus Criteria (2003).

 

Q: What do you expect from the Rituximab studies that are currently being done in Norway and other countries?

 

A: Rituximab will confirm that the B cells are sick in ME/CFS; this treatment does not give lasting results; I am more interested in what makes the B cells ‘sick’; a publication is in the making.

I think the Rituximab research is a great diagnostic model but not the ultimate treatment.

 

Q: Is it possible to define a set of objective makers to support the diagnosis?

 

A: Yes, we are working on this and also on symptoms and a battery of four tests, which should be discriminatory. The problem is that we don’t have enough healthy controls, otherwise this study would already have been published long ago. The controls need to match by gender and age and live in the same vicinity as the patients and they are not allowed to be contact-controls. If you don’t do it this way, you’ll never get this work published (which is as it should be).