Patient perspective | Cushing’s – patient no.2

Clinical Skills Pro Free PACES revision

Patient perspectives can be very useful learning opportunities.

We know not every patient walks through the door with a textbook set of signs and symptoms, and hearing directly from patients about the progression of their condition can give us a greater understanding of complications.  We can also use these insights to gain empathy about the frustrations and struggles different patient groups may endure – in this case a patient with Cushing’s disease.

My journey started in 2012 when I visited my ENT consultant complaining about compromised taste and smell, and as I’d had previous sinus surgery he ordered an MRI. The result of this showed clear sinuses but a 1mm pituitary adenoma. I was referred to an Endocrinologist who ordered various tests which claimed that the pituitary wasn’t secreting excessive hormones. I would be reviewed on a yearly basis.

In February 2014 I had a total knee replacement; the other one had been replaced previously. I had already been diagnosed with osteoarthritis & rheumatoid arthritis was confirmed by a hand ultra sound scan although blood results were negative for the RA factor.

Following my knee surgery it was noted that my BP was elevated. I had been diagnosed with hypertension several years previous and was already on hypotensives. For several months my BP was monitored by my GP and more medication introduced however the BP was fairly resistant to medication. I frequently stated that this wasn’t normal for me; I ate healthily, (my husband being an insulin dependent diabetic) exercised, didn’t smoke and drank little alcohol. Eventually I was referred back to my endocrinologist who at that time was slow to respond. In the end it was my rheumatologist who felt that I exhibited signs of Cushing’s . She started the process of testing. My weight had increased but I felt that was due to not being able to exercise so much since the knee replacement. I have always been fit, walking the dogs for an hour plus each day; holidays were hill walking and swimming.

My endocrinologist took over the testing process and Cushing’s was confirmed in November 14. However it took a while to see the neurosurgeon who required more testing; he also wanted to do the surgery with an ENT surgeon due to my previous sinus surgery. Eventually it was scheduled for September 15, the surgeons were only allocated 2 days a month for theatre time.

I had gained nearly 2 stone in weight, not as much as some people. My muscles had become very weak and I had to resort to using a mobility scooter to get out as I couldn’t walk very far. I was on four different medications for my BP, I was being investigated for sleep apnoea prior to the surgery. I was diagnosed with sleep apnoea in November 15, stopping breathing 72 times an hour; I now use a CPAP machine.

Surgery went well although initially my cortisol levels were still quite high so they weren’t convinced that the surgery had been successful, however the levels did come down. Recovery is very slow, you’re not given enough information about the recovery, initially I had thought that the tumour would be removed and I would recover quickly. This hasn’t been the case. I am now nearly a year post op,  my BP is still elevated, I haven’t lost weight either. I am still struggling with muscle weakness even though I am actively trying to exercise with hydrotherapy. I take 20mgs of replacement hydrocortisone, taking it trying to mimic the circadian cycle.  A day curve showed that I needed replacement HC. I am due to have more tests soon to see what is going on, he plans to do saliva tests throughout the day.

Although my endocrinologist is good (he thinks outside of the box) I have had the greatest support via the internet community, learning far more there than from any doctor. Most of the groups are US based but the UK based Facebook group has 103 members which just goes to show that it isn’t as rare as we’re led to believe and that people are looking for support!  

We have another perspective on Cushing’s disease here written by another patient. On this post we have included some notes on the condition that you will find useful for you revision.

We are going to publish more patient perspectives with revision notes soon so please follow our blog or sign up to our newsletter to keep up to date with new posts. If you or anyone you know would like to contribute their story then please email us at [email protected] to find out more. All information is treated confidentially.

Patient perspective: Cushing’s disease

Patient perspectives can be very useful learning opportunities.

We know not every patient walks through the door with a textbook set of signs and symptoms, and hearing directly from patients about the progression of their condition can give us a greater understanding of complications.  We can also use these insights to gain empathy about the frustrations and struggles different patient groups may endure – in this case a patient with Cushing’s disease (not Cushing’s syndrome!) describes how her weight gain may be assumed to being due to overeating by many health professionals without consideration of other diagnoses.

A Cushing’s disease patient perspective

My story is that in 2011 I had a few falls which was very unusual. Presumably from one of these falls I developed a prolapsed disc in my neck, and tore the tendon across my left shoulder, giving me excruciating pain. The GP just gave me more painkillers, I was taking amitriptyline, diclofenac, codeine and paracetamol and was getting little if any pain relief. I was offered acupuncture by a Chinese doctor, which at last gave me some relief.

Early the next year I went to her to get help to improve mobility in my left arm. She told me I had to see a GP that day as the oedema in my legs and feet was very bad. Unexpectedly when I told the receptionist what the problem was, she told me to come in 1/2 hour. The GP I saw just happened to be a hospital trainer and said I think you have Cushing’s disease! I did not even know I was unwell and had certainly never heard of Cushing’s Disease. However I became quite unwell quite quickly after that with many nasty physical symptoms kicking in. I have a very good endocrinologist who apparently said to himself the first time he saw me – “If this lady does not have Cushing’s disease, I am going to pack up my job and go home!!”

I had surgery in Wessex Neuro Unit, Southampton, for a macro adenoma in 2012, and again a week later. I was then left with 3 bits of tumour – one bit too high to get at transphenoidally (the surgeon had intended to re-operate above the eyebrow, but had to re-operate again transphenoidally, so obviously decided to leave it as I was having radiotherapy anyway). Another bit is wrapped around the carotid artery and the other one is on the pituitary stem, so I had radiotherapy in late 2012.

I therefore struggle with seeing that so many people do not get the quick diagnosis I received. I have realised that my GP’s know nothing about Cushing’s, my endocrinologist knows a bit more, but as even he only sees a Cushing’s disease patient about every 2 years I do not feel that is enough to understand the disease. I now run a patient support group and have realised that we all have different experiences and symptoms with the same illness. I am not surprised it is difficult for doctors to understand and diagnose it.

It is a dreadful disease and now 4 years later, I feel unwell a lot of the time, and am unable to do very much. I am 67 but felt I was fairly fit and healthy until hit with this. Left untreated it definitely damages our organs, so early diagnosis is very important.

You are welcome to share my story, if you wish. However, it is not at all typical as I was diagnosed before I knew I had a problem, but so many others have to wait years, getting sicker and sicker being told to go and lose weight or that it is just in their mind, there is nothing wrong! There are also many mis-diagnoses along the way, such as depression, PCOS etc.

I just wish they could find better diagnostic tools.

Cushing’s disease revision notes.

We are grateful to patient E for sharing her story about her diagnosis of Cushing’s disease with us.  Her story is not unusual.

In the revision notes below we review the pathology of Cushing’s disease:

Cushing’s disease is not the same as Cushing’s syndrome (CS). It is characterised by an abnormally high level of cortisol in blood due to an ACTH secreting pituitary tumour. Rarely ACTH producing tumours may grow elsewhere in the body, when they are called ectopic tumours.

Clinical Features

Clinical features of Cushing’s disease include the symptoms resulting from excess hormone in blood as well as compressive effects of the pituitary tumour (if large enough). Common clinical features in the disease are:

  • Change in physical appearance
  • Moon facies
  • Buffalo hump
  • Easy bruising of skin
  • Abdominal striae (purplish stretch marks)
  • Weight gain (in abdominal area only. Limbs tend to be thin)
  • Plethora (red cheeks)
  • Increased hair growth on legs, face, neck and chest
  • Generalized weakness and fatigue
  • Muscle wasting in upper thigh making getting up from chair difficult
  • Menstrual disorders
  • Reduced sex drive
  • Reduced fertility
  • Hypertension (uncontrollable)
  • Diabetes mellitus (severe)
  • Behavioral changes and mood disturbances
  • Vision loss (macroadenomas)
  • Loss of acuity
  • Color perception affected
  • Hypopituiarism (macroadenoma)
  • Reduced sex hormones, LH and FSH
  • Elevated Prolactin levels (stalk effect)

Diagnosis

Due to slow evolution of symptoms and signs it is often difficult to diagnose the disease in early stages. Furthermore, elevations in hormones occur in cycles and periods making diagnosis complicated. A detailed history, a thorough physical examination and tests are crucial to reach a diagnosis. Investigations that can be carried out include:

  • Hormone testing
  • 24 hour urine free cortisol measurement
  • Cortisol saliva testing
  • Blood ACTH
  • MRI- detects adenoma in 70% of cases
  • Inferior petrosal sinus sampling (IPSS)-if MRI fails then IPSS is conducted. It distinguishes ACTH producing tumor in pituitary from a tumor elsewhere in the body

Management

Management of Cushing’s disease requires a team of experts and treatment options available for the disease include:

  • Surgery
    • Surgical removal is a long-term solution
    • Cure rate for small tumors – 80-85%
    • Endoscopic technique is very effective
  • Medication
    • Drugs don’t lower ACTH production and don’t shrink tumor but inhibit cortisol production by adrenals
    • Necessary before surgery (ill patients)
    • Indicated if surgery fails
  • Radiation therapy
    • Effective for controlling growth if surgery fails
    • Stereotactic radiosurgery
    • Delayed pituitary failure may occur several years later as a consequence
  • Other options
    • Cortisol replacement by hydrocortisone or prednisolone after surgery.

We are going to publish more patient perspectives with revision notes soon so please follow our blog or sign up to our newsletter to keep up to date with new posts. If you or anyone you know would like to contribute their story then please email us at [email protected] to find out more. All information is treated confidentially.