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Is Noonan Syndrome A Progressive Disease & Alternative Treatments For It?

While Noonan syndrome is not alarming, yet, if you have this disorder you may be subjected to related diseases, including cardiovascular problems, bleeding conditions, and certain types of the tumor at some point in the course of your lifespan.

It has a higher prevalence in children. Clinical reports state that one in 1,000 newborns is affected by this condition.

Is Noonan Syndrome A Progressive Disease?

A medical study was conducted on over 100 individuals affected with Noonan syndrome in the age group of 12-71 years. Transformations in PTPN11 (a protein code gene that regulates a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation) were identified in 35% of probands. During the investigation, about 10 patients died due to the progression of cardiovascular disease.

Pulmonary stenosis affected 73 patients; 42 subjects needed no intercession, nine Noonan syndrome patients experienced balloon pulmonary valvuloplasty and over 20 clinical valvuloplasties. Similarly, feeding disorders were noticed in infants and these children failed to grow and gain weight at the expected rate (failure to thrive). In addition, these infants had a delay to start speaking.

Are there any treatments or therapies to treat this condition? Let us see the treatment of Noonan Syndrome.(1,2)

Alternative Treatments For Noonan Syndrome

As Noonan syndrome shoots from a genomic fault, there are no alternative treatments for it. Therapy intends to cope with the related symptoms and problems, so it differs for everyone. Treatment of Noonan Syndrome is often dependent on several aspects of the disease:

Preventing Serious Heart Problems – Heart disease is a leading trigger of mortality, but it’s not unavoidable. Fortunately, there are several factors you can accomplish to lower the risks of getting heart ailment. In addition, early diagnosis and management can prevent long-term health consequences.

Growth Hormone Complication – Noonan Syndrome clients with PTPN11 mutation had reduced concentrations of insulin-like development component 1 (IGF-1) than individuals with no PTPN11 mutation. Several affected kids have a comparatively typical growth rate (velocity) before adolescence. However, later they are likely to show abnormalities and experience delayed growth.

Treatment For Bleeding And Bruising- Some affected individuals have excessive bruising, nosebleeds, or prolonged bleeding after injury or surgery. Women with Noonan syndrome experience excessive bleeding during menstruation. During such instances, avoid aspirin or aspirin-containing products and follow medication prescribed by your doctor.(3,4)

Promising New Therapy For Noonan Syndrome Infants

In the latest research, scientists and investigators at Université de Montréal confirm that a MEK inhibitor called trametinib can reverse hypertrophic cardiomyopathy (HCM) and valvular obstruction in individuals with this condition.

A per Dr. Andelfinger, Trametinib therapy is the initial methodology precisely aimed at the molecular cause of RASopathies. The results of this therapy paved the way for larger trials and eventually showed improvement and normalization of laboratory values.(5)

Diagnosis Of Noonan Syndrome

The most ultimate data of Noonan syndrome is a genetic experiment. However, in some instances, genetic testing does not yield accurate results when the subject has characteristic abnormalities. During such conditions, laboratory tests and heart function test is believed to provide proven evidence.

Laboratory Test – Noonan syndrome can be validated through a blood work for the numerous genetic mutations.

Heart Function Tests- This test determines pulmonary hypertension as well as the other heart defects that are associated with Noonan syndrome.

Genetic Testing – It is a procedure that reads the instruction that makes up the genes known to play a role in the development of Noonan syndrome.

If there’s an indication of heart complications, a physician who specializes in heart ailments (cardiologist) can evaluate the kind and acuteness of the disease and suggest treatments.


Also Read:

Sheetal DeCaria, M.D.
Sheetal DeCaria, M.D.
Written, Edited or Reviewed By: Sheetal DeCaria, M.D. This article does not provide medical advice. See disclaimer
Last Modified On:December 20, 2019

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