Cowden’s Syndrome (CS) and Nutrition

/ whatnothealthcoaching

I am not a doctor or a specialist, but I wanted to bring attention to a genetic syndrome out there that I feel is getting overlooked, based on experiences a lot of medical professionals need this explained to them (or they have to look it up) unless they have a wide variety of knowledge on genetics. And of course want to give some nutritional prospective on the matter as well.

What is it?

Cowden’s syndrome is the mutation to the PTEN gene, patients with CS are at high risk of developing multiple tumors, to the thyroid, breast, and endometrium. 1 As a result of this, patients are at high risk to developing cancer in their lifetime: 7

  • Breast Cancer 85%
    • Thyroid cancer 35%
    • Endometrial cancer 28%
    • Other associated cancers include colorectal cancer, kidney cancer, and melanoma to be developed at early ages. 

How is it tested?

The testing for this genetic disorder is done through DNA testing saliva 8.  I have had a case study where the patient wasn’t tested or considered to even have this until their oncologist saw their medical history while they were fighting breast cancer a second time.  And this patient’s family also had signs of it, but no doctor thought twice about it, until they were tested after the patient came back positive with Cowden’s.

Signs

Cowden syndrome is characterized primarily by multiple, noncancerous growths (called hamartomas) on various parts of the body 1,7About 99% of people who have CS will have benign growths on the skin and/or in the mouth by the end of their 20s. People with CS will also develop growths (polyps) along the inner lining of the gastrointestinal tract.

Other signs and symptoms CS may include (Symptoms will vary from person to person1)1,7

  • Benign diseases of the breast, thyroid, and endometrium; 
    • Rare, noncancerous brain tumor called Lhermitte-Duclos disease.
    • An enlarged head (macrocephaly)
    • Autism spectrum disorder;
    • Intellectual disability

Nutrition

Unfortunately, with Cowden’s syndrome and nutrition, it is very hard to come up with an appropriate plan of attack.  Some patients have it worse than others and some patients are caught early enough to be monitored.  Either way a nutritional side of this will vary from patient to patient, a lot of it will be determined on the course of treatments or procedures they are or will be going through or even how long were they living with complications before diagnosis.   In the matter of the case study I spoke of earlier, the patient had many procedures, treatments and complications from the Cowden’s Syndrome and would most likely have to change a lot of their dietary habits just to get some relief to their body.

As for others, if caught early enough dietary changes may not be needed at all or very little, just close monitoring from doctors and readiness to make the appropriate adjustments to eating habits if and when needed.

Disclosure

If you think you may have this disorder, please, please, please speak with your doctor and a genetic specialist before coming to any conclusions. Remember I am not a doctor or a specialist and I will not pretend to be, but I have studied this genetic syndrome. There is not a lot of good information out there, but I hope that bringing attention to it will result in more people trying to learn and find out more information on it.

References

1. Cowden syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. Nih.gov. Published 2017. https://rarediseases.info.nih.gov/diseases/6202/cowden-syndrome

2. Furosemide: MedlinePlus Drug Information. medlineplus.gov. Accessed July 27, 2021. https://medlineplus.gov/druginfo/meds/a682858.html#special-dietary

3. MyFitnessPal | MyFitnessPal.com. www.myfitnesspal.com. http://www.myfitnesspal.com

4. Hobert JA, Eng C. PTEN hamartoma tumor syndrome: An overview. Genetics in Medicine. 2009;11(10):687-694. doi:10.1097/gim.0b013e3181ac9aea

5. Pilarski R. PTEN Hamartoma Tumor Syndrome: A Clinical Overview. Cancers. 2019;11(6):844. doi:10.3390/cancers11060844

6. NCCN Guidelines Version 2.2015 Cowden Syndrome/PHTS. National Comprehensive Cancer Network; 2015.

7. Pilarski R, Burt R, Kohlman W, Pho L, Shannon KM, Swisher E. Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria. JNCI Journal of the National Cancer Institute. 2013;105(21):1607-1616. doi:10.1093/jnci/djt277

8. Specific Site Analysis of PTEN. Ambry Genetics; 2015.