Medical Rarity `24

MAY

Medical Rarity: The Biggest Risk of all

The breast cancer risk for an average woman is 12%. It is estimated that a lifetime risk for a woman with CS to get breast cancer is 50-85%. Quite high odds right there. It’s our biggest risk. So, although a shock, in some ways it was not a surprise when I had a mammogram call back earlier this year.

Every dr manages the Cowdens risk differently, they all have their own guidelines, but I have the following schedule that I organised for myself. Every January I have a mammogram and every June I have ultrasounds. That way my breasts get thoroughly checked every 6 months. I had the January 2024 mammogram and just under 4 weeks later, a phone call from BreastScreen Qld came inviting me back as they had spotted “irregularities”. 

It should be noted that irregularities can be anything from a cyst, a lump, cancer or simply a dodgy scan. I got the call telling me of my ‘irregularities” on the Thursday and on the Friday morning I went back for my follow up check.

Thankfully mine turned out to be nothing to worry about but the fact that BreastScreen Queensland were so quick off the mark with follow ups boosted my confidence. My 6 monthly checks will continue, and I will deal with something when or if it rises up. Breast cancer may never rear its ugly head with me, but 6 monthly checks will ensure it’s caught early if it does. That’s all I can do.

APRIL

Medical Rarity: Thyroid – one year on 

On April 28th it will be one year since I had 1/2 my thyroid removed. However, it started long before that. In October of 2020, I noticed a lump in my neck. Just small at the time, but enough to make me have an issue with swallowing.  Off I went to the GP. Three fine needle aspirations later, all with “inconclusive” results, lead to a ‘watch and wait’ plan.

I was then sent to an endocrinologist who made the decision that the thyroid needed removing, he wanted it all out. I was then sent to the surgeon who disagreed with him and said, “I’m only removing the dodgy half.” April 28th, 2023, I was in Noosa Private Hospital having a hemi-thyroidectomy. Once done and dusted there were a few aftereffects.

  • I had to sleep sitting up for 5 days to allow swelling to go down. (I’m a flat sleeper so that wasn’t easy!)
  • I had the mother of sore throats that seemed to last months.
  • I had a tickly cough that lasted a while.
  • The pitch of my voice had changed and took almost 12 months to return to what I considered normal. Let’s just say I went from singing Kate Bush high pitches to being more a Mark Knopfler low tones kinda girl!

But 12 months on, here I am. I still have 1/2 a thyroid so there was no need for thyroxine. My scar was beautiful done (Thank you Dr Donovan) and my thyroid levels are perfect. I’ve been signed off by the endocrinologist and have my regular thyroid ultrasound every year.

MARCH

Medical Rarity: Endometrial Cancer

Although I never knew it at the time, my first interaction with Cowden’s syndrome was a 2013 diagnosis of endometrial cancer. Here’s what happened.

Back in 2006, my paternal nan passed away from ovarian cancer. Then, her daughter found that she had ovarian cancer and breast cancer. Sadly, we lost her too. Due to the fact that there were 2 generations with ovarian cancer, it was time to make some choices. The next generation was 7 grandsons and me, the only one with ovaries in that generation!  So, I made the conscious decision to have my ovaries removed, to take away the risk.

During that surgery, a routine uterine biopsy/scraping was completed, and it was found to be positive for endometrial cancer. I’d had no symptoms. This preventative surgery had ended up locating something. I then needed a full hysterectomy. Luckily the cancer was found at stage 1. I routinely underwent checks with the oncologist while in remission and four years later I was officially declared cancer-free.

That was (unbeknownst to me) my first interaction with a Cowden’s  syndrome cancer.

FEBRUARY

Medical Rarity: Cowdens and me

While last month I examined what Cowdens Syndrome is, this month I am going to overlay those symptoms onto my health and tell you what ones I am dealing with.

Some may say this is personal information to share but with the rarity of cowdens being what it is, if I can help one person by sharing…then it’s a job done.

  1. Thyroid – The first issue I noted was a lump in my throat. This wasn’t related to cowdens at the beginning as I hadn’t been diagnosed. I had three fine needle aspirations to see what was going on. All were inconclusive. A decision was made to ‘watch and wait’. Eventually the lump grew and became a goitre. I had issues swallowing and found I had a long-term cough from trying to constantly clear my throat. I was referred to an endocrinologist who suggested a full thyroidectomy. My surgeon said no and did a hemi-thyroidectomy. He didn’t see the point in removing the healthy half. What was removed was benign (non-cancerous)
  2. Gastroenterological symptoms – In January 2022 it was discovered I had blood in the bowels. I’d had no symptoms. My first colonoscopy in March of 2022 showed I had polyps in the hundreds. Since then, I have had 4 more colonoscopies, all clearing out about 100 polyps at a time. I have seen a gastro surgeon on recommendation for removal of my entire bowel. However, it is a life changing surgery that does not negate the cancer risk, so I have said no at this time. Every polyp that’s been removed so far has been benign.
  3. Skin Manifestations: I can add in keloid scars, white lumps and bumps on hands, face, legs and feet. A few skin bumps have been removed. All benign.
  4. Large Head – Ever since I was a child, I have had a large head. No hats would fit me. My mum had to cut the neckline of jumpers to get them over my head. Now I know why. It’s a classic Cowdens sign. An average female head is 57cm. Mine is bigger….by 6cm.
  5. Breast Abnormalities – Focal benign echogenic lesions noted (lipoma) as well as coarse calcifications. A small cyst and intramammary lipomas noted. That’s my checklist here or so I thought….I was called back after a mammogram. The first time that this has happened and very scary. As a nurse, it’s worse. We know more. While they found nothing new, it was a potential breast cancer scare that I didn’t need.
  6. Kidney abnormalities possible echogenic focus in (r) kidney- cortisol scar or AML
  7. Liver – Hemangioma in liver. Noted to be benign in nature.
  8. Endometrial cancer – malignancy Diagnosed 2013, and cancer free since 2017.
  9. Genetics – Cowden syndrome is primarily caused by mutations in the PTEN gene, located on chromosome 10. Following testing, it was shown I have that mutation.

I’ve been asked if I would have preventative surgeries. For example: bowel surgery, mastectomy etc. my answer is always no. With cowdens I do have a higher chance of having breast cancer at some stage in my life, but lopping off healthy tissue comes with its own risks. This is my Cowden Syndrome story of symptoms. Every January and June I have scans and every August I have a colonoscopy. It’s a fun life.

JANUARY

Medical Rarity: What is Cowdens disease?

Cowden syndrome is a rare genetic disorder characterised by the development of multiple noncancerous, tumour-like growths called hamartomas. This condition is primarily caused by mutations in the PTEN gene, which plays a crucial role in regulating cell growth and division. Cowden syndrome is also classified as a type of PTEN hamartoma tumour syndrome (PHTS), a group of disorders that share a common genetic basis.

Clinical Features:

One of the hallmark features of Cowden syndrome is the presence of multiple hamartomas, which can affect various organs, including the skin, mucous membranes, gastrointestinal tract, thyroid, breast, and central nervous system. These hamartomas are usually noncancerous, but their growth and presence can cause significant medical problems and complications.

Skin Manifestations:

Individuals with Cowden syndrome frequently exhibit skin abnormalities. These can include trichilemmomas, which are small, benign tumours arising from the outer root sheath of hair follicles. Other skin findings may include papillomatous papules, acral keratoses, and lipomas.

Oral and Mucosal Manifestations:

Mucosal lesions are also common in Cowden syndrome and may involve the oral cavity, gastrointestinal tract, and genitourinary system. Papillomatous papules, mucosal neuromas, and benign tumours may be observed in these areas.

Breast Abnormalities:

Women with Cowden syndrome have an increased risk of developing breast cancer. The presence of breast hamartomas, fibrocystic changes, and other breast abnormalities may necessitate careful monitoring and early intervention.

Thyroid Abnormalities:

Thyroid disorders are prevalent in Cowden syndrome, with an elevated risk of thyroid cancer. Thyroid nodules and goiter are common findings, and regular thyroid surveillance is recommended for individuals with this syndrome.

Gastrointestinal Involvement:

Hamartomatous polyps in the gastrointestinal tract, particularly the colon and small intestine, may occur in Cowden syndrome. Regular colonoscopies and gastrointestinal screenings are essential for early detection and management.

Central Nervous System Involvement:

While less common, Cowden syndrome can involve the central nervous system, leading to conditions such as Lhermitte-Duclos disease, which is characterised by hamartomatous growths in the cerebellum.

Genetics:

Cowden syndrome is primarily caused by mutations in the PTEN gene, located on chromosome 10. The PTEN gene encodes a protein that acts as a tumour suppressor, helping to regulate cell division and prevent the formation of tumours. When mutations occur in this gene, the normal control over cell growth is disrupted, leading to the development of hamartomas.

Cowden syndrome follows an autosomal dominant inheritance pattern, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to be affected. In some cases, the mutation may occur spontaneously, without being inherited.

Diagnosis and Management:

Diagnosing Cowden syndrome involves a combination of clinical evaluation, genetic testing, and imaging studies. The presence of characteristic features, such as skin and mucosal lesions, along with a family history of the syndrome, may prompt further investigation. Genetic testing, specifically for mutations in the PTEN gene, is a key component of the diagnostic process. Once a diagnosis is confirmed, a comprehensive management plan is essential to address the diverse manifestations of the syndrome.

Medical Surveillance:

Regular surveillance is crucial for individuals with Cowden syndrome to detect and manage potential complications early. This may include dermatologic examinations, thyroid ultrasounds, breast imaging, and gastrointestinal screenings.

Preventive Measures:

Given the increased risk of certain cancers, preventive measures such as prophylactic mastectomy, bowel surgery and thyroidectomy may be considered in some cases. However, these decisions are highly individualised and require careful consideration of the patient’s overall health and preferences.

To conclude, Cowden syndrome is a rare and complex genetic disorder with a range of clinical manifestations affecting multiple organ systems. Advances in genetic testing have improved our ability to diagnose this condition, allowing for early intervention and medical surveillance.

While there is currently no cure for Cowden syndrome, a multidisciplinary approach involving dermatologists, geneticists, oncologists, and other specialists can help manage the diverse aspects of this syndrome and improve the quality of life for affected individuals.