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)


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 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.