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Disease Profile

Cyclic vomiting syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

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Europe Estimated

Age of onset

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ICD-10

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Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CVS; Familial cyclic vomiting syndrome (subtype)

Summary

Cyclic vomiting syndrome (CVS) is a condition characterized by recurrent, prolonged episodes of severe nausea and vomiting. Episodes of vomiting may last hours or days. Other signs and symptoms during episodes may include intense sweating, paleness, weakness and fatigue, abdominal pain, diarrhea, fever, dizziness, and headache. Most people with CVS are symptom-free in between episodes, but some people have milder symptoms.[1][2][3] The condition can begin at any age, but it most often begins in childhood.[1] A subset of people with CVS also have neurologic or neuromuscular disorders; the condition in these cases is referred to as "CVS plus."[4][5][6]

The underlying cause of CVS is unknown. Data suggest there is a strong genetic component for CVS in children, involving changes (mutations) in mitochondrial DNA.[7][8][5] Researchers believe that the condition primarily affects the brain, causing abnormalities in how the brain and gut interact.[3] Many people with CVS report "triggers" for episodes, such as excitement, stress, infections, eating certain foods, and menstruation.[3] People with a family history of migraines may be more likely to develop CVS.[9]

Treatment strategies for controlling symptoms may include avoiding triggers, medications to prevent or relieve nausea, tricyclic antidepressants, anti-migraine medications, and supplements called coenzyme Q-10 and L-carnitine.[8][3][10][1] While some people with CVS outgrow the condition within a few years, others continue to have episodes through adulthood.[8] Children who outgrow CVS may go on to develop migraines.[3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

 0002027
Anorexia
0002039
Ataxia
0001251
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

 0007018
Autism
0000717
Cardiomyopathy
Disease of the heart muscle
0001638
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

 0100543
Exercise intolerance
Decreased ability to exercise
Inability to exercise

[ more ]

 0003546
Gastrointestinal dysmotility
0002579
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

 0001290
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

 0001510
Hearing impairment
Deafness
Hearing defect

[ more ]

 0000365
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

 0001249
Lethargy
0001254
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

 0000252
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

 0002076
Mitochondrial inheritance
0001427
Motor delay
0001270
Multifactorial inheritance
0001426
Muscle weakness
Muscular weakness
0001324
Muscular hypotonia
Low or weak muscle tone
0001252
Nausea
0002018
Pallor
0000980
Seizure
0001250
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

 0000486
Vomiting
Throwing up
0002013
Do you have updated information on this disease? We want to hear from you.

Treatment

Treatment of cyclic vomiting syndrome (CVS) aims to prevent episodes (prophylactic therapy), stop episodes (abortive therapy), and provide supportive care while symptoms are present (supportive therapy). There is no specific treatment that has been proven effective in controlled trials, but several therapies based on observation and experience (empiric therapies) have been effective in case series. Treatment options for each person may depend on the person's age, whether there is a family history of migraines, the severity of episodes, and how often episodes occur.[8] People with CVS should consult with their doctor about a personalized treatment plan.

Prophylactic therapy options include:[8][11][7]

  • Avoiding triggers of episodes (e.g. certain foods, physical exhaustion, sleep deprivation, or psychological stress).
  • Various medications (usually for patients with more than one episode per month). Examples include cyproheptadine, amitriptyline (a tricyclic antidepressant), various anti-convulsants, propranolol, and erythromycin. There is consensus among experts that amitriptyline should be used as the first treatment for children over 5 years old, and cyproheptadine for children under 5 years old. Approximately 80% of those with a family history of migraines respond well to anti-migraine medications.
  • Supplements called coenzyme Q-10 and L-carnitine. Retrospective studies have shown these to be very effective.

Abortive therapy options include various anti-migraine and anti-nausea medications such as ondansetron, promethazine, prochlorperazine, and a group of drugs used for migraines called triptans (e.g. sumatriptan).[8][11]

Supportive therapy is needed when both prophylactic and abortive therapies are unsuccessful. Supportive care is an extremely important aspect of treatment while a person is having symptoms. This may involve:[8][11][7]

  • Oral fluids if possible.
  • IV fluids if needed.
  • Sedatives or pain medications to allow for sleep and a break from severe nausea.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Cyclic vomiting syndrome. Click on the link to view a sample search on this topic.

          References

          1. Cyclic vomiting syndrome. Mayo Clinic. August 8, 2017; https://www.mayoclinic.org/diseases-conditions/cyclic-vomiting-syndrome/basics/definition/con-20028160?METHOD=print.
          2. Cyclic Vomiting Syndrome. International Foundation for Functional Gastrointestinal Disorders. March 24, 2016; https://aboutkidsgi.org/upper-gi/cyclic-vomiting-syndrome.html.
          3. Cyclic Vomiting Syndrome. National Organization for Rare Disorders (NORD). 2017; https://rarediseases.org/rare-diseases/cyclic-vomiting-syndrome/.
          4. Kumar N, Bashar Q, Reddy N, et al. Cyclic Vomiting Syndrome (CVS): is there a difference based on onset of symptoms pediatric versus adult?. BMC Gastroenterol. May 28, 2012; 12:52. https://www.ncbi.nlm.nih.gov/pubmed/22639867.
          5. Cassandra L. Kniffin. Cyclic Vomiting Syndrome; CVS. Online Mendelian Inheritance in Man (OMIM). October 19, 2005; https://www.omim.org/entry/500007.
          6. Cyclic vomiting syndrome. MedlinePlus Genetics. March, 2014; https://ghr.nlm.nih.gov/condition/cyclic-vomiting-syndrome.
          7. Desilets DJ. Cyclic vomiting syndrome. UpToDate. Waltham, MA: UpToDate; March 31, 2017; https://www.uptodate.com/contents/cyclic-vomiting-syndrome.
          8. Venkatesan T. Cyclic Vomiting Syndrome. Medscape Reference. July 20, 2017; https://emedicine.medscape.com/article/933135-overview.
          9. Cyclic Vomiting Syndrome. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). March, 2014; https://www.niddk.nih.gov/health-information/digestive-diseases/cyclic-vomiting-syndrome.
          10. Bhandari S, Venkatesan T. Clinical Characteristics, Comorbidities and Hospital Outcomes in Hospitalizations with Cyclic Vomiting Syndrome: A Nationwide Analysis. Dig Dis Sci. August, 2017; 62(8):2035-2044. https://www.ncbi.nlm.nih.gov/pubmed/28050780.
          11. Irwin S, Barmherzig R, Gelfand A. Recurrent Gastrointestinal Disturbance: Abdominal Migraine and Cyclic Vomiting Syndrome. Curr Neurol Neurosci Rep. March, 2017; 17(3):21. https://www.ncbi.nlm.nih.gov/pubmed/28283964.

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