Cowdens Syndrome

What is Cowdens?

Cowden’s Syndrome is a condition that is characterized by multiple growths (called hamartomas) on various parts of the body. It is defined as an inherited condition.

People with Cowden’s are at an increased risk of development of certain cancers. The cancers in question are breast, thyroid, endometrial, colorectal and kidney. Most of the cases, are caused by genetic alterations in the PTEN gene.

Cowden’s Syndrome is a rare condition that affects 1 in every 200,000 people. It is not curable, but it is manageable, using close monitoring, testing and liaison with GP and relevant consultants. 


There are many symptoms, covering many body systems, for those with Cowden`s Syndrome. No two Cowden`s clients are ever the same. They all present differently.  As I looked at the symptoms, my  life medical history started to make sense. Let me tell you about my symptoms. 

These are the symptoms that I have. Some of these I have now. Some I have had since birth. Some are from my medical history. However, when they were all gathered together, it was very clear to the geneticist that my diagnosis was the right one.

  • COLORECTAL POLYPOSIS – Growths in the intestines that can be malignant or benign.
  • GOITER – Enlargement of the thyroid gland.
  • MACULES – flat, discolored area of the skin less than 1cm.
  • HAMARTOMATOUS POLYPOSIS – polyps in the gastro-intestinal tract.
  • HEMANGIOMA – benign tumours – mine are on my liver.
  • MACROCEPHALY – Increased head size.
  • SEIZURES – this is a known issue for some Cowden`s. A cause for mine could never be established.

Whats next?

So with all the symptoms I have, as well as the potential risks that Cowden`s  demonstrates, what is my medical plan? What is next?

Plan of action

In accordance with the GP,  the Geneticist recommendations and myself,  we have a course of action. This is a plan that we will start with. Dependant on whether the regular scans show anything, as well as how I am physically, will indicate whether that plan will change.

  • Colonoscopies every 6 months. 
  • Ultrasound of kidneys every 2 years. 
  • Referral to nephrologist (kidney specialist) if needed. 
  • Breast ultrasound yearly. 
  • Breast Mammogram every 2 years. 
  • Referral to breast surgeon to discuss surgery if needed proactively or preventatively. 
  • Thyroid scans every year. 
  • Review with endocrinologist every 3 months. 

Hospitals, Radiology units, Geneticists, Consultants, Surgeons and GPs are my new best friends for the rest of my life  now.

While they do their bit, and I continue with my writing, life isn’t  all bad!