coQ10 cyclic vomiting syndrome

Cyclic Vomiting Syndrome and Mitochondrial Dysfunction: Research and Treatments

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Cyclic vomiting syndrome (CVS) is a debilitating disease characterized by episodes of severe nausea and persistent vomiting interspersed with periods of wellness. CVS affects about 2 percent of school-aged children, and also affects adults, although in adults it is often not recognized. Getting a diagnosis can be challenging, and sometimes takes a long time. Episodes of CVS can be extremely debilitating, and are sometimes difficult to treat and require hospitalization.

My daughter has suffered from this disease for 10 years, since she was 2 years old (see her story here). Her episodes were somewhat predictable when she was younger, but have changed and become less predictable, and more difficult to manage with medication, as she gets older. Although we try to avoid triggers such as stress and fatigue, being a pre-teen girl, she likes to have sleepovers with her friends and stay up chatting all night.  Unlike other pre-teen girls, however, she suffers the aftereffects of the sleepovers sometimes by vomiting for 24 hours or more.

What Causes Cyclic Vomiting Syndrome?

Although it has long been thought to be related to migraines, many sources state that the cause of cyclic vomiting syndrome is not known. Mechanisms that may be involved include episodic dysautonomia (malfunction of the autonomic nervous system that can result in a variety of symptoms), mitochondrial DNA mutations that cause deficits in cellular energy production, and heightened stress response that causes vomiting. However, there is mounting evidence for the role of mitochondrial dysfunction in the pathogenesis of this disease, a fact that is not often understood by the average practicing gastroenterologist. The connection to mitochondrial dysfunction has important implications for effective treatment of cyclic vomiting syndrome.

Mitochondrial Dysfunction, Cyclic Vomiting and Other Conditions

Mitochondria are small organelles within the cell responsible for energy production and other critical functions. Because of these crucial functions, Dr. Richard Boles, Director of the Metabolic and Mitochondrial Disorders Clinic at Children’s Hospital Los Angeles, explains that “30 years or so ago, many scientists couldn’t believe that mitochondrial disease could exist, because how does the organism survive?” However, mitochondrial dysfunction plays a role in many diseases, including CVS, and according to Dr. Boles:

“these are partial defects. Mitochondrial dysfunction doesn’t really cause anything, what it does is predisposes towards seemingly everything. It’s one of many risk factors in multifactorial disease. It can predispose towards epilepsy, chronic fatigue, and even autism, but it doesn’t do it alone. It does it in combination with other factors, which is why in a family with a single mutation going through the family, everyone in the family is affected in a different way. Because it predisposes for disease throughout the entire system.”

DNA mutations that affect mitochondrial function can occur in the DNA that is found in the nucleus of the cell (genomic DNA), or they can occur in the DNA that is found within the mitochondria themselves. Mitochondrial DNA is inherited differently than nuclear DNA. Most people are familiar with the inheritance of nuclear DNA, in which we have two copies of every gene, and we inherit one copy from each of our parents. However, mitochondrial DNA is inherited exclusively through the mother; therefore, mutations that affect the mitochondrial DNA can be traced through the maternal lineage of a family.

A possible relationship between cyclic vomiting syndrome and mitochondrial dysfunction was suggested by the finding that in some families, CVS was maternally inherited. Mitochondrial DNA mutations and deletions have been reported in patients with CVS, and disease manifestations of mitochondrial dysfunction have been found in the maternal relatives of patients with CVS. In other words, conditions such as migraines, irritable bowel syndrome, depression, and hypothyroidism, are often found in the maternal relatives of patients with CVS.

Mitochondrial DNA mutations don’t cause CVS directly, in the way that a DNA mutation causes cystic fibrosis, for example. In some patients, mitochondrial dysfunction plays a greater role in the causation of their disease, and in other patients, it may be less of a factor. Dr. Boles explains: “In some cases it’s a clear mitochondrial disorder, they have multiple other manifestations and it drives the disease. However, in most patients, it is one of many factors in disease pathogenesis.” Patients with classical mitochondrial disorders have disease manifestations such as muscle weakness, neurological problems, autism, developmental delays, gastrointestinal disorders, and autonomic dysfunction. Some patients with CVS have these other disease manifestations, and some have only CVS symptoms.

Treatment for Cyclic Vomiting Syndrome and Mitochondrial Dysfunction

As with many diseases, understanding as least some of the cause of CVS has allowed for the development of treatments tailored towards fixing the root cause. Co-enzyme Q10 and L-carnitine are two dietary supplements that have been used to treat a wide variety of conditions.  Both supplements may be able to assist the mitochondria with energy production and thus, help compensate for mitochondrial dysfunction. A retrospective chart review study found that using these two supplements, along with a dietary protocol of fasting avoidance (having three meals and three snacks per day), was able to decrease the occurrence of, or completely resolve, the CVS episodes in some patients. In those patients who didn’t respond to treatment with supplements alone, the addition of amitriptyline or cyproheptadine, two medications that have been used for prevention of CVS episodes, helped to resolve or decrease the episodes. Treatment with the cofactors alone was well tolerated with no side effects, and treatment with cofactors plus amitriptyline or cyproheptadine was tolerated by most patients. Therefore effective treatment for prevention of CVS episodes does exist, although it may not be widely employed by most gastroenterologists.

My daughter is currently trying to treat her CVS with the combination of co-enzyme Q10 and L-carnitine. So far she hasn’t experienced any side-effects, and over the next few months we will see if she experiences a decrease or even a complete cessation of her episodes. My hope for her is that she won’t have to choose between missing out on a fun night with her friends, and being able to be functional for the rest of the weekend. Maybe she can be like every other teenager and go to a sleepover, and just be grumpy the next day, instead of spending the next day vomiting and lying on the bathroom floor in pain.

Dr. Richard Boles, MD:  Dr. Boles completed medical school at UCLA, a pediatric residency at Harbor-UCLA, and a genetics fellowship at Yale. He is board certified in Pediatrics, Clinical Genetics and Clinical Biochemical Genetics. His current positions include Associate Professor of Pediatrics at the Keck School of Medicine at USC, an attending physician in Medical Genetics at Children’s Hospital Los Angeles, and Medical Director of Courtagen Life Sciences. Dr. Boles practices the “bedside to bench to bedside” model of a physician-scientist, combining an active clinical practice in metabolic and mitochondrial disorders with clinical diagnostics (DNA testing) and research. Dr. Boles’ clinical and research focus is on polymorphisms (common genetic changes) in the DNA of genes involved in energy metabolism, and their effects on the development of common functional disorders. Examples include migraine, depression, cyclic vomiting syndrome, complex regional pain syndrome, autism and SIDS. He has 50 published papers on mitochondrial disease.

Postscript: Using this advice, we were able to manage my daughter’s vomiting. Here is the follow-up story.

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This article was first published on January 28, 2014. 

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Hope for Cyclic Vomiting Syndrome

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Two days ago, I helped my twelve year old daughter pack for two weeks of overnight camp. We followed the suggested packing list that the camp provided, and when we got near the bottom of the list I realized there was one important thing that was not there that she needed—her medication and supplements. My daughter has had cyclic vomiting syndrome (CVS) since she was two years old, a disease that causes her to have frequent episodes of severe nausea, vomiting, and abdominal pain.

She has bravely managed this debilitating disease for 10 years. She has been going to camp for four years already, and every year she has had a vomiting episode at camp—one year while she was out on a canoe trip, and one year starting early in the morning on the day she was supposed to leave. When she was younger she used to have episodes like clockwork every two months, and as she got older, her episodes became less predictable, and more responsive to events in her life such as stress, fatigue, or even excitement. She would sometimes have three episodes within one month, and other times go for as long as three months without an episode. On average she would have one to two episodes per month.

This year, for the first time, she has had only two episodes of vomiting in the last seven months. This dramatic change occurred after she started a new regimen of dietary supplements—L-carnitine and Coenzyme Q10. We decided to try using these supplements after learning about research that suggests that CVS may be caused partly or completely by mitochondrial dysfunction. More information about the connection between CVS and mitochondrial dysfunction can be found here. L-carnitine and Coenzyme Q10 assist the mitochondria with energy production and thus, help compensate for mitochondrial dysfunction and potentially improve symptoms in CVS patients. These supplements may also help improve symptoms in other disorders linked to mitochondrial dysfunction such as migraine, irritable bowel syndrome, fibromyalgia, and medication adverse reactions.

Results from small clinical studies on the use of these supplements for cyclic vomiting syndrome have been very promising. A retrospective chart review study found that using these two supplements, along with a dietary protocol of fasting avoidance (having three meals and three snacks per day), was able to decrease the occurrence of, or completely resolve, the CVS episodes in many patients. The supplements were also shown to be safe and well tolerated, with few side effects.

My daughter noticed an immediate improvement in her symptoms. She had almost daily morning nausea even when not having a vomiting episode, and this disappeared almost right away. She started asking for breakfast, when previously I’d always had to try to convince her to eat at least half a piece of toast. She now will often eat either three eggs and two pieces of toast, or a big plate of dinner leftovers for breakfast. She also has a better appetite throughout the day. I don’t think I ever heard her say the words “I’m hungry” until this past year, when she was 12 years old. Previously quite underweight, in the past 7 months she has literally gained as much weight as she gained in the previous 7 years.

The first 2 months on the supplements she had no vomiting episodes. Then she ran out of her supplements while my husband and I were away, and within 2 days she was having a vomiting episode. Then over the last 5 months she has had one more episode, after a period of extreme stress. This represents a huge decrease in episode frequency for her. When we got to packing her medications and supplements for camp, I packed her supplements with careful instructions for the doctor as to the dosage, and the fact that she has to take them every day to prevent episodes, as we saw earlier this year what happens when she stops them even briefly. I then started looking around the house for her Zofran pills (a strong prescription anti-emetic), which was what we would usually use to try to stop her vomiting when she was having an episode. I have always sent them to camp with the instructions that they are to be used if she starts vomiting. I couldn’t find the Zofran anywhere—it had been so long since we had needed it. I called the pharmacy, but they didn’t have any in stock. I found one emergency pill stashed in my purse and I packed that, but I have a feeling that this could be her first year enjoying camp with no interruptions due to illness.

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More people than ever are reading Hormones Matter, a testament to the need for independent voices in health and medicine. We are not funded and accept limited advertising. Unlike many health sites, we don’t force you to purchase a subscription. We believe health information should be open to all. If you read Hormones Matter, like it, please help support it. Contribute now.

Yes, I would like to support Hormones Matter. 

Postscript: This article was published originally in July of 2014. We are happy to report that after years of suffering from CVS, Philippa’s daughter remains largely episode free with relapses only when she misses her supplements or changes her routine. For more on cyclic vomiting syndrome search our archive. 

 

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