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Cushing's Disease

Understanding how symptoms present, as well as tolerability for surgery, can help shed light on treatment.

Living with Cushing’s disease

Cushing’s disease, although rare, significantly impacts the lives of patients who are diagnosed with this condition. These profiles highlight typical patient concerns, and illustrate common symptoms associated with the manifestation of Cushing’s disease.


Patient

Teresa

Age: 55 years old

Patient Insight

Teresa has expressed embarrassment about her appearance due to weight gain, excessive bruising, hair growth on her face, and sweating. She consistently feels agitated and reports that she is unable to relax.

Treatment Naïve

Teresa has not had surgery; no history of medical treatment for hypercortisolism.

Disease

Cushing’s disease (severe, treatment naïve)

Diagnosed

Within the last year, 11 mm pituitary adenoma confirmed with MRI

Surgery

Not eligible for surgery (physician judgement); tumor extends into the cavernous sinus

Signs and Symptoms

Teresa has several signs/symptoms associated with high cortisol levels:

  • Weight gain (17 lbs. over 6 months without changing diet or lifestyle); dorsocervical and supraclavicular fat deposits; central obesity
  • Osteoporosis
  • Edema in lower legs and ankles; thinning skin; bruises easily
  • Hirsutism
Relevant Laboratory Parameters
  • Current cortisol status: Uncontrolled
  • 24 h UFC: 5.8 × ULN and 6.1 × ULN
  • LNSC: 2 × ULN
  • ACTH: 2 × ULN

Consider management options to control cortisol levels and improve clinical manifestations of hypercortisolism.

Case details adapted from: Frara et al. 2022; Gadelha et al. 2022; Pivonello et al. 2016; Pivonello et al. 2020; Valassi et al. 2022.

Patient

Andrea

Age: 47 years old

Patient Insight

Medical therapy for hypercortisolism was initiated 1 week after surgery. After 6 months on treatment, cortisol levels have reduced but remain persistently uncontrolled. Andrea is also experiencing gastrointestinal side effects that impact his adherence to the prescribed medication.

Treatment

Andrea has not had surgery; no history of medical treatment for hypercortisolism.

Disease

Cushing’s disease (moderate, persistent following surgery)

Diagnosed

Recently diagnosed; BIPSS confirmed pituitary source of ACTH secretion; 4 mm pituitary adenoma identified by MRI

Surgery

Transsphenoidal surgery to remove pituitary tumor; however, cortisol levels remained high and medical therapy was initiated

Signs and Symptoms

Signs and symptoms of hypercortisolism were noted by Andrea for at least 3 years prior to diagnosis: 

  • Increased central obesity and weight gain
  • Rounded face
  • Muscle weakness in upper limbs
  • Increased appearance of striae
  • Hypertension (137/89 mmHg)
  • Hypokalaemia
  • Diabetes
Relevant Laboratory Parameters
  • Current cortisol status: Uncontrolled
  • 24 h UFC: 3.0 × ULN and 3.3 × ULN
  • LNSC: 2 × ULN
  • ACTH: 2 × ULN
  • Potassium: 3.0 nmol/L (normal: 3.6–5.2 nmol/L)
  • HbA1c: 7.1%

Per treatment guidelines, consider adjusting medical therapy to improve adherence, or repeat surgery. If cortisol control remains insufficient, explore radiation therapy options. Bilateral adrenalectomy is a last resort if cortisol remains uncontrolled.

Case details adapted from: Antonini et al. 2022; Castinetti et al. 2021; Clayton et al. 2022; Fookeerah & McLean 2021; Gadelha et al. 2022; Moyers & Tiemensma 2020; Pivonello et al. 2016; Pivonello et al. 2020; Santos et al. 2019; Valassi et al. 2022; Varlamov et al. 2021.

Patient

Mario

Age: 55 years old

Patient Insight

Mario has commented that because of his muscle weakness and tiredness, he is unable to go about his daily life, including playing with his young grandchildren.

Treatment

Despite attempts to optimize medical therapy since his surgery 5 years ago, Mario’s cortisol levels have not been controlled, nor have they stabilized.

Disease

Cushing’s disease (mild, persistent following surgery)

Diagnosed

Diagnosed 5 years ago; BIPSS confirmed pituitary source of ACTH secretion; 8 mm pituitary adenoma confirmed with MRI

Surgery

Transsphenoidal surgery to remove pituitary tumor, but cortisol remained uncontrolled

Signs and Symptoms

Without a consistent reduction in cortisol, Mario has not experienced improvements in his symptoms and comorbidities:

  • Hypertension (160/90 mmHg)
  • Diabetes
  • Increased central obesity with weight gain (24 lbs. since diagnosis)
  • Increased appearance of striae
  • Osteoporosis
  • Muscle weakness in lower limbs
Relevant Laboratory Parameters
  • Current cortisol status: Uncontrolled
  • 24 h UFC: 1.6 × ULN and 1.3 × ULN
  • LNSC: 4 × ULN
  • ACTH: 3 × ULN
  • HbA1c: 6.9%

Per treatment guidelines, consider repeat surgery, radiation, or 
adding/adjusting meds. Bilateral adrenalectomy is a last resort if cortisol remains uncontrolled.

Case details adapted from: Antonini et al. 2022; Castinetti et al. 2021; Clayton et al. 2022; Fookeerah & McLean 2021; Frara et al. 2022; Gadelha et al. 2022; Moyers & Tiemensma 2020;  Pivonello et al. 2016; Kamińska M et al. 2023; Pivonello et al. 2020; Santos et al. 2019; Valassi et al. 2022; Varlamov et al. 2021.

ACTH, adrenocorticotropic hormone; BIPSS, bilateral inferior petrosal sinus sampling; HbA1c, glycated haemoglobin; LNSC, late-night salivary cortisol; MRI, magnetic resonance imaging; UFC, urinary free cortisol; ULN upper limit of normal.

Adult patients with CD who cannot undergo pituitary surgery or for whom surgery has been ineffective?

The information provided is intended for educational purposes. The fictitious case studies do not refer to any portrayed patients but depict the general aspects and manifestations of Cushing’s disease. All photographs are used with permission. No personal medical information is disclosed.

Photo by S. Schirato, sponsored by Recordati AG

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