Cyclic Vomiting Syndrome – Connection between CVS, CRPS Type I, and DNA? YES!

Some people had written in and asked us to clarify some terminology used in the research article described above, done at Children’s hospital in Los Angeles. At the same time we thought it might be interesting for everyone to read about one of the many connections this has to our community and realize the possibilities it might hold for helping others in the future.

Some of you may have heard of a child being diagnosed, or even been diagnosed yourselves with CVS, aka Cyclic Vomiting Syndrome. You might not have known that there is a connection between CVS and CRPS, as well as

CYCLIC VOMITING SYNDROME – GENETICS HOME REFERENCE 

This isn’t a new article, since it was done in 2009, but I recently came across this on the NIH website, in the area devoted to Genetics. It describes what Cyclic Vomiting Syndrome is; what the genetic changes related to it are; and how people inherit it. Why is this important?

In the combined research grant described above, Doctor Boles investigated mitochondrial DNA.

and

Cyclic vomiting syndrome

Cyclic vomiting syndrome may be related to genetic changes in mitochondrial DNA. Some of these changes alter single DNA building blocks (nucleotides), whereas others rearrange larger segments of mitochondrial DNA. These changes likely impair the ability of mitochondria to produce energy. Defects in energy production may lead to symptoms during periods when the body requires more energy, such as when the immune system is fighting an infection. However, it remains unclear how changes in mitochondrial function are related to recurrent episodes of nausea and vomiting.

Also, there is this study;

conclusion? Overall, maternal inheritance is suggested in 86% of the families (in 65% strongly so). Disease manifestations in subjects and their affected matrilineal relatives are predominately intermittent and consistent with dysautonomia, including increased vital sign fluctuations. Body fluid metabolites and muscle biopsy findings are consistent with mitochondrial dysfunction in most cases tested. We conclude that mtDNA sequence variants are at least risk factors in the development of disease in most children at this “severe” end of the CVS spectrum, likely involving a maternally inherited propensity towards dysautonomia.

Many studies did link CVS and DNA and CRPS,

such as this one;

And others, such as this one which was also done at the Children’s Hospital in Los Angeles, that showed a clear predisposition to CRPS Type I in children with certain mitochondrial DNA sequence variants. Here is the Abstract from this particular Study, but understand that there are many to choose from on the internet. The information is out there to find folks! Amazing Doctors have already done some great work, but much more is needed to be funded and done.

Abstract

OBJECTIVE: Complex regional pain syndrome type I (CRPS-I), previously known as reflex sympathetic dystrophy (RSD), is an idiopathic condition characterised by localised, abnormally intense and prolonged pain, allodynia and autonomic nervous system changes (ie, swelling, skin colour and temperature changes and altered perspiration) that usually appear following a “noxious” trigger such as trauma or surgery. The objective of this report is to demonstrate that children with CRPS-I can have additional dysautonomic conditions secondary to an underlying maternally inherited mitochondrial disease, an association not previously published.

METHODS: Medical records of about 500 patients seen by one paediatric metabolic geneticist were reviewed to identify children meeting established CRPS diagnostic criteria.

RESULTS: CRPS-I was present in eight children in seven families, each of which also had additional functional/dysautonomic conditions, the most common (> or = 4 cases per condition) being gastrointestinal dysmotility, migraine, cyclic vomiting and chronic fatigue. All seven probands studied met Nijmegen (2002) diagnostic criteria for definite mitochondrial disease on the basis of the clinical signs and symptoms and biochemical analyses. Six of the seven families met our pedigree-based criteria for probable maternal inheritance.

CONCLUSION: In one tertiary-care paediatric genetics practice, children meeting the CRPS-I diagnostic criteria frequently had additional autonomic-related conditions secondary to maternally inherited mitochondrial disease, suggesting that mitochondrial DNA sequence variants can predispose children towards the development ofCRPS-I and other dysautonomias. CRPS-I should be considered in patients with mitochondrial disease who complain of idiopathic pain. Maternally inherited mitochondrial disease may not be a rare cause of CRPS-I, especially in children who present with other manifestations of dysautonomia.

For more on this study

Why is that link important? Why is it important that there is a connection between CRPS and DNA?

Read further on DNA – CRPS CONNECTION? in the next section following this article.

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