Rare Hematology News

Disease Profile

Kawasaki disease

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.

Unknown

Age of onset

Adult

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ICD-10

M30.3

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)

Mucocutaneous lymph node syndrome; Kawasaki syndrome

Categories

Blood Diseases; Heart Diseases; Immune System Diseases;

Summary

?xml:namespace prefix = st1 ns = "urn:schemas-microsoft-com:office:smarttags" /Kawasaki disease is a disease that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki disease begins with a fever that lasts at least five days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes.[1] Sometimes the disease affects the coronary arteries which carry oxygen-rich blood to the heart, which can lead to serious heart problems. Kawasaki disease occurs most often in people of Asian and Pacific Island descent.[2] The cause of Kawasaki disease is unknown.[1][2] An infection along with genetic factors may be involved.[2][3] Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting.[1][2] Prognosis is generally very good, but in cases of heart complications it depends on the severity of the coronary disease.[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
80%-99% of people have these symptoms
Cervical lymphadenopathy
Swollen lymph nodes in the neck
0025289
Cheilitis
Inflammation of the lips
0100825
Conjunctivitis
Pink eye
0000509
Palmoplantar erythema
0025493
Proteinuria
High urine protein levels
Protein in urine

[ more ]

0000093
Recurrent pharyngitis
Recurrent sore throat
0100776
Skin rash
0000988
Vasculitis
Inflammation of blood vessel
0002633
30%-79% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormal heart valve morphology
0001654
Abnormality of nail color
Abnormality of nail colour
0100643
Arthritis
Joint inflammation
0001369
Diarrhea
Watery stool
0002014
Edema
Fluid retention
Water retention

[ more ]

0000969
Fatigue
Tired
Tiredness

[ more ]

0012378
Fever
0001945
Glossitis
Inflammation of the tongue
Smooth swollen tongue

[ more ]

0000206
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number

[ more ]

0001974
Pericarditis
Swelling or irritation of membrane around heart
0001701
5%-29% of people have these symptoms
Abnormal pulmonary Interstitial morphology
Abnormality in area between air sacs in lung
0006530
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat

[ more ]

0011675
Arthralgia
Joint pain
0002829
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Cholecystitis
Gallbladder inflammation
0001082
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure

[ more ]

0001635
Cranial nerve paralysis
0006824
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
0011658
Hepatitis
Liver inflammation
0012115
Irritability
Irritable
0000737
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Meningitis
0001287
Migraine
Intermittent migraine headaches
Migraine headache
Migraine headaches

[ more ]

0002076
Myocarditis
Inflammation of heart muscle
0012819
Nausea and vomiting
0002017
Ptosis
Drooping upper eyelid
0000508
Sterile pyuria
0100586

Cause

The cause of Kawasaki disease (KD) is unknown. The disease results when cells move into the tissues and buildup there, leading to vascular damage, but what causes the cell buildup in the first place is unknown. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been identified, and the role of genetics is not well understood.[2][4]

Genetic factors appear to be important to this disorder, as suggested by the increased frequency of the disease in Asian and Asian-American populations and among family members of an affected child. A number of gene variants (polymorphisms) are associated with an increased risk of developing (susceptibility) KD, and some of these variants are also associated with coronary artery lesions and aneurysm formation.[12298]

Other theories suggest that the disease is caused by a response from the body's immune system.[5]

KD is not contagious; it cannot be passed from one person to another.[2] Other risk factors include being a male gender, being between six months and five years of age, and having a family history of KD.[5]

Treatment

Intravenous gamma globulin is the standard treatment for Kawasaki disease and is administered in high doses. Children with Kawasaki disease usually improve significantly within 24 hours of treatment with IV gamma globulin (IVIG). Aspirin is often given in combination with the IV gamma globulin as part of the treatment plan in the beginning of the disease.[1] Additional treatments include glucocorticoids, which may reduce the level of inflammatory markers and fever more rapidly, and decrease the rate of initial treatment failure in certain high-risk patients.[3] You can read about complications, treatment, and prevention of Kawasaki disease on the American Heart Association website.

Management Guidelines

    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

        • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
        • The Centers for Disease Control and Prevention (CDC) provide more information on reporting cases of Kawasaki syndrome. Click on the CDC link to view this information.

          National Center for Zoonotic, Vector-Borne, Enteric Diseases (NCZVED)
          1600 Clifton Road, NE
          MS D-76
          Atlanta, GA 30329-4018

        • The Vasculitis Foundation offers information on Kawasaki disease to assist patients, family members, and medical professionals in learning more about the condition.
        • KidsHealth created by The Nemours Foundation's Center for Children's Health Media provides information in both English and Spanish about this condition. Click on the link to access the information page on Kawasaki disease.
        • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
        • Genetics Home Reference (GHR) contains information on Kawasaki disease. This website is maintained by the National Library of Medicine.
        • The National Heart, Lung, and Blood Institute (NHLBI) has information on this topic. NHLBI is part of the National Institutes of Health and supports research, training, and education for the prevention and treatment of heart, lung, and blood diseases.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
          • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
          • 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. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Kawasaki disease. Click on the link to view a sample search on this topic.

            Videos/Presentations

            • Dr. Adriana Tremoulet spoke on Kawasaki Disease (KD), in her lecture "Kawasaki Disease: New Horizons" at the NIH Clinical Center in November 2016. Dr. Tremoulet is an associate professor and associate director at the Kawasaki Disease Research Center at the University of California San Diego Rady Children's Hospital. While the lecture is aimed at medical professionals, it may be of interest to anyone who seeks detailed information on KD.

              References

              1. Starkebaum GA. Kawasaki disease. MedlinePlus. April 20, 2013; https://www.nlm.nih.gov/medlineplus/ency/article/000989.htm.
              2. Kawasaki disease. National Heart Lung and Blood Institute Web site. September 20, 2011; https://www.nhlbi.nih.gov/health/health-topics/topics/kd/.
              3. Sundel R. Kawasaki disease: Initial treatment and prognosis. UpToDate. 2016; https://www.uptodate.com/contents/kawasaki-disease-initial-treatment-and-prognosis.
              4. Kawasaki disease. Genetics Home Reference (GHR). September 2015; https://ghr.nlm.nih.gov/condition/kawasaki-disease.
              5. Sundel R. Kawasaki disease: Epidemiology and etiology. UpToDate. 2016; https://www.uptodate.com/contents/kawasaki-disease-epidemiology-and-etiology?source=see_link.
              6. What is Kawasaki disease?. American Heart Association. 2015; https://www.heart.org/idc/groups/heart-public/@wcm/@hcm/documents/downloadable/ucm_300320.pdf.

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