A recent publication from BMC Pediatrics outlines a case study of Kawasaki disease in a group of infants from Italy. Because Kawasaki disease is a rare disease (with only an estimated 3000 new diagnoses in the United States every year), opportunities to study it in children less than a year old can be limited.
About Kawasaki Disease
Kawasaki disease is an acute illness that most often affects children. It’s characterized by the inflammation of mid-size and major arteries throughout the body. Serious cases can involve even the coronary arteries. Patients affected may first present with a prolonged fever, noticeable skin rash, or swollen lymph nodes. They may also develop severe conjunctivitis, and redness of other blood vessel-dense tissues like the palms, lips, and oral tissues.
Without treatment, inflammation of blood vessels can sometimes progress dangerously. About 25% of untreated cases result in severely damaged coronary arteries, which can be a lifelong and life-threatening condition. Currently, treatment is administered in the form of gamma globulin (an immune system protein), sometimes combined with aspirin to lower general inflammation.
The origins of Kawasaki disease remain unclear, however. A singular cause has yet to be definitively identified, but most believe the condition to be linked to over-activity of the immune system.
Mutations of certain genes responsible for regulating immune system function have been linked to increased risk for developing Kawasaki disease, lending strong evidence to an autoimmune mechanism. Mutations of one gene in particular, called ITPKC, are strongly associated with Kawasaki disease. Normally functioning versions of ITPKC are responsible for the production of an enzyme that limits the activity of immune T cells.
In places where access to care is adequate, the prognosis for Kawasaki disease is usually good. However, promptness of care is critical — once coronary arteries are involved, the condition can be fatal, even with treatment.
Infants May Present Challenges in Care
However, new discoveries can add nuance to Kawasaki disease care.
A recent study of 32 Italian infants (aged under 1 year old) with Kawasaki disease found that many did not display “classic” signs and symptoms, making them difficult to conclusively diagnose. In particular, infants with Kawasaki disease were found to be much less likely to develop changes of oral tissues and mucosa than older patients (with only 18.2% of those in the study showing changes versus the 64 to 96.5% reported rate of most patients).
In light of these differences, the study authors recommended that physicians consider Kawasaki disease as a clinical possibility whenever treating an infant running an enduring fever (lasting longer than a few days). Other symptoms, including skin rash and conjunctivitis, were seen more regularly in infants, which might still be useful for confirming a diagnosis.
Because the early detection and treatment of Kawasaki disease is the most important part of a good prognosis, treatment for Kawasaki disease should begin as early as suspected to minimize potential damage to the coronary arteries.
What do you think of the results found by the study? Do you think there is a bias in how we study disease? Share your thoughts with Patient Worthy!
