What Kind of Doctor Should I See for Cushing's Disease?

Cushing’s Disease is a rare hormonal disorder caused by a benign pituitary tumor that leads to the overproduction of adrenocorticotropic hormone (ACTH), resulting in excessive cortisol levels in the body. 

This condition disrupts normal cortisol rhythms and can contribute to serious health complications if not properly managed, including metabolic and cardiovascular issues.

Because it’s relatively rare and can present like diabetes or heart disease, it can be easy to miss. However, proper diagnosis and management of Cushing’s Disease are necessary to support long-term health.  

Specialists such as endocrinologists, neurosurgeons, and radiation oncologists typically diagnose and manage the disease, although the patient may need long-term medical care if chronic complications persist.

This article guides readers on the types of doctors they may consider consulting if they suspect or have been diagnosed with Cushing’s Disease. This process begins with an open and honest conversation with the primary care doctor, who can direct the patient to further care if necessary. 

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What is Cushing’s Disease?

Cushing's disease is a specific form of Cushing’s syndrome caused by a benign pituitary tumor that overproduces adrenocorticotropic hormone (ACTH), leading to excessive cortisol production by the adrenal glands. This condition disrupts normal cortisol rhythms and can contribute to serious complications if left unmanaged. 

While Cushing’s syndrome broadly refers to any cause of prolonged high cortisol levels, Cushing's disease specifically refers to excessive cortisol driven by a pituitary adenoma, making up 80% of endogenous Cushing’s syndrome cases. 

Managing Cushing's disease involves a combination of surgery, medication, and ongoing monitoring. 

Cortisol’s Effects on the Body

Cortisol is a glucocorticoid hormone that regulates metabolism, modulates the immune response, directs the stress response, and is necessary for healthy fetal development. 

However, excessive cortisol can disrupt these functions, leading to muscle weakness, osteoporosis, hyperglycemia, weight gain, hypertension, and increased risk of cardiovascular issues because of the widespread locations and effects of glucocorticoid hormone receptors throughout the body.

Prolonged high cortisol levels also affect brain health and may contribute to neuropsychiatric issues, including emotional instability, depression, anxiety, and cognitive deficits. 

Symptoms of Cushing’s Disease

Common symptoms of Cushing’s disease include central obesity, with fat accumulation in the abdomen, face ("moon face"), and upper back ("buffalo hump"). 

Due to disrupted collagen production, skin changes, such as thinning, slow wound healing, and purple stretch marks, are also prevalent. Patients may experience acne and altered hair growth, particularly in women and prepubertal children. 

Muscle weakness, especially in the limbs, creates a contrast between a large abdomen and thin extremities. 

Elevated cortisol can also lead to mood disturbances, including depression, anxiety, and cognitive impairment, as well as high blood pressure due to fluid retention. 

Metabolic issues like insulin resistance, hyperglycemia, and hyperlipidemia are common, along with bone health problems such as osteoporosis, resulting in fragile bones and back pain. 

Reproductive health may also be affected, with women facing menstrual irregularities and men experiencing decreased libido or erectile dysfunction. 

Other symptoms include increased thirst and urination, headaches, visual disturbances, and decreased immunity, which can mimic conditions like diabetes or cardiovascular disease.

Why Early Diagnosis is Crucial

The earlier Cushing’s disease is identified, the sooner the patient can begin management to support normal cortisol levels. Chronically elevated cortisol levels can contribute to whole-body health complications, many of which persist after management for Cushing’s disease.

Cushing’s disease is associated with cardiovascular, metabolic, respiratory, psychiatric, and skeletal complications, many of which will continue to need long-term management, even after surgical removal of the pituitary tumor. Early identification and management of Cushing’s disease can reduce the severity of these important complications.

Cushing’s syndrome is rare outside of excessive or chronic glucocorticoid use. However, symptom recognition and the diagnostic process can take years, so discussing concerns with your primary care provider is important. 

This timeline is often due to the variability and subtlety of symptoms, which can make diagnosis challenging. However, since symptoms often mimic cardiometabolic conditions like diabetes or heart disease, Cushing’s disease should be considered in patients with unusual or progressive symptoms for their age.

Consulting the Appropriate Medical Provider

Often, patients first discuss their concerns with a primary care provider, who can initiate the referral process to other medical experts for the appropriate testing.

Primary Care Physician (PCP)

For those with undiagnosed chronic conditions like Cushing’s disease, PCPs are essential to initiate diagnosis and care. Their role is to listen, identify underlying causes of symptoms, initiate diagnostic tests, and refer to specialists if needed.

If you're experiencing unexplained symptoms, discuss them with your doctor. Expect a thorough review of your symptoms and medical history, focusing on weight changes, muscle weakness, skin changes, bone density loss, infections, hyperglycemia, hyperlipidemia, hypertension, and mood and cognitive shifts.

The doctor will review medication use, including chronic glucocorticoids or drugs like megestrol acetate, and inquire about herbals like licorice or topical glucocorticoids. Family and medical history will also be considered, particularly regarding endocrine issues.

A physical exam will check for key signs such as:

• Easy bruising

• Facial redness

• Muscle weakness

• Reddish-purple striae (stretch marks) over 1 cm wide

• In children, weight gain with slowed growth can be an important sign of Cushing’s syndrome. 

Other, less specific signs include: 

• A dorsocervical fat pad (a fat buildup between the shoulders and neck)

• Facial fullness

• Obesity

• Thin skin

• Peripheral edema (fluid retention)

• Acne

• Hirsutism (excessive coarse hair growth in women in areas like the face and chest)

• Poor skin healing

• Early-onset hypertension (high blood pressure)

Recent labs may show hypokalemia (low potassium), impaired glucose tolerance (high blood sugar, insulin resistance, or possibly diabetes), and dyslipidemia (high cholesterol).

Expect your primary care provider to share their insights and discuss whether a specialist referral is needed. If there's any uncertainty about the root cause of your condition, a referral is usually made for further evaluation.

Endocrinologist

Most commonly, a PCP will refer a patient to an endocrinologist if there is any concern for Cushing’s disease. 

What is an Endocrinologist?

An endocrinologist is a medical doctor who specializes in diagnosing and treating disorders of the endocrine or hormone, systems.  Endocrinologists commonly treat conditions such as diabetes, thyroid disorders, osteoporosis, adrenal disorders, and hormone imbalances, as well as less common conditions like Cushing’s disease.

Because of their highly specialized training, an endocrinologist is the best medical professional to diagnose and manage a complex condition like Cushing’s disease. They have the expertise to know which tests to order and how to interpret them to arrive at the correct diagnosis accurately. 

An endocrinologist will tailor an individual’s treatment plan based on the underlying cause; this may include referrals to additional specialists if needed.

How Will an Endocrinologist Diagnose Cushing’s Disease?

To begin the diagnostic process for Cushing’s disease, an endocrinologist will order screening tests like the 24-hour urinary free cortisol to detect elevated cortisol levels, the late-night salivary cortisol to assess loss of the normal circadian rhythm, or the dexamethasone suppression test to evaluate the body’s cortisol response. 

If initial tests suggest high cortisol, confirmatory tests follow. These may include a midnight serum cortisol test, a plasma ACTH test, the low-dose dexamethasone test with CRH stimulation, or the desmopressin test to confirm Cushing’s.

Initial workup indicating hypercortisolemia may be followed by imaging to assess for a hormone-producing tumor.

MRI is recommended for detecting small pituitary tumors in suspected ACTH-dependent Cushing's disease. If no tumor is found, further testing is needed. 

Adrenal CT scans are suggested for ACTH-independent Cushing's to identify adrenal tumors or hyperplasia and can also locate small ACTH-producing tumors. PET scans are used when ectopic ACTH production is suspected but not detected by CT or MRI, particularly for small neuroendocrine tumors. 

Bilateral Inferior Petrosal Sinus Sampling (BIPSS) differentiates between pituitary and ectopic ACTH sources when imaging is inconclusive. Higher ACTH levels in blood from the petrosal sinuses point to a pituitary source.

What Treatments Will an Endocrinologist Recommend for Cushing’s Disease?

Treatment for Cushing’s disease typically involves surgical intervention, a transsphenoidal adenomectomy to remove the pituitary tumor.

Radiation therapy is an option for patients unresponsive to surgery or with recurrent disease. 

Medications are also considered and can include:

• Steroidogenesis inhibitors (ketoconazole, metyrapone, mitotane) for those unable to undergo surgery or awaiting radiation

• Pituitary-directed drugs (cabergoline, pasireotide) 

• Glucocorticoid antagonists (mifepristone) for persistent disease

• Combination therapy may be necessary in severe cases

Even after hypercortisolism is managed, ongoing monitoring is essential for persistent issues like hypertension, diabetes, and cardiovascular problems. Depending on the chronic conditions caused by Cushing’s disease, the patient may again be referred to the appropriate specialists for long-term management.

Neurosurgeon

A neurosurgeon specializes in performing surgeries on the nervous system, including the brain and spinal cord. In Cushing's Disease, they perform the transsphenoidal adenomectomy to remove the pituitary tumor (adenoma) causing excess cortisol production.

Removing the tumor is often the best option to support normal cortisol levels and reduce associated symptoms. Surgery is typically the first-line treatment when the tumor is accessible and the patient's condition is stable.

Typically, in transsphenoidal surgery, the tumor is removed through the nasal cavity. This approach is minimally invasive and has a high success rate in experienced hands. 

Radiation Oncologist

A radiation oncologist specializes in using radiation therapy to treat cancer and other conditions. In Cushing's Disease, they are essential when surgery isn't fully effective or possible, using targeted radiation to address residual tumor cells and support cortisol production management.

Radiation therapy options include stereotactic radiosurgery, which delivers precise, high-dose radiation to the tumor with minimal impact on surrounding tissues, and conventional radiation therapy, which uses lower doses over several sessions to address residual tumor cells.

Endocrine Surgeon

An endocrine surgeon specializes in surgeries on endocrine glands, such as the adrenal glands. For Cushing’s syndrome caused by adrenal gland issues, they may perform an adrenalectomy to remove one or both adrenal glands to support cortisol production management.

Adrenal surgery, or adrenalectomy, is necessary when an adrenal tumor causes Cushing's syndrome or when other treatments have failed to manage cortisol production. It's also considered in cases of severe disease where rapid reduction of cortisol levels is critical.

Patients typically require lifelong hormone replacement therapy to compensate for the loss of adrenal gland function, ensuring they maintain proper hormonal balance and avoid complications.

Other Specialists You May Need

Patients in long-term recovery from Cushing’s disease may need additional medical support. The following specialists often become part of the patient’s long-term medical team:

Cardiologist: Cushing’s disease can create long-term cardiovascular complications that persist beyond surgical, radiation, or medical treatment. A cardiologist manages cardiovascular complications such as hypertension and heart disease, which are common in patients with Cushing's disease due to prolonged exposure to high cortisol levels.

Dermatologist: a dermatologist treats skin-related symptoms, including thinning skin, acne, and easy bruising, which are direct effects of excess cortisol.

Psychiatrist or Psychologist: many patients with Cushing's disease experience psychological effects like depression and anxiety that may persist after cortisol levels normalize. A psychiatrist or psychologist can provide necessary interventions to improve mental well-being.

Nutritionist: a nutritionist develops a tailored diet plan to help manage weight, blood sugar levels, and overall health during and after treatment, which can be challenging due to the metabolic disturbances caused by Cushing's disease.

Importance of a Multidisciplinary Approach to Cushing’s Disease

Collaborative Care: a team of specialists working together ensures comprehensive care for Cushing’s Disease by addressing the wide range of symptoms and complications associated with chronically high cortisol. 

Each specialist contributes their expertise to create a holistic and effective treatment plan, from hormonal balance to cardiovascular health and mental well-being.

Coordinating Between Specialists: in a patient’s overall treatment plan for Cushing’s Disease, each specialist plays a distinct role—whether it’s managing hormone levels, cardiovascular health, skin conditions, or psychological support. 

Effective communication among healthcare providers ensures that all treatments are aligned and that the patient receives cohesive and integrated care.

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Key Takeaways

Key Specialists in Treating Cushing’s Disease include:

• Endocrinologist: specializes in diagnosing and managing hormone-related disorders, often leading the treatment plan for Cushing’s Disease.

• Neurosurgeon: performs transsphenoidal adenomectomy to remove the pituitary tumor, a primary treatment for Cushing’s Disease.

• Radiation Oncologist: provides targeted radiation therapy when surgery isn't fully effective or possible.

• Endocrine Surgeon: handles adrenalectomy when Cushing’s syndrome is caused by adrenal tumors.
  

Consulting the right specialists early is necessary for timely and effective management of Cushing’s Disease. Often, it is a visit with the primary care provider that initiates the required diagnosis and management through appropriate referrals. 

Then, an endocrinologist is essential for accurate diagnosis, while a neurosurgeon, radiation oncologist, and/or endocrine surgeon provide targeted treatments.

After Cushing’s disease is managed and cortisol levels normalize, additional specialists may join an individual’s healthcare team to manage chronic complications. 

With the right medical team, Cushing’s Disease can be managed effectively. Each specialist plays a part in diagnosis, treatment, and long-term care. Patients should feel reassured that a multidisciplinary approach offers the best chance for successful management and recovery from this complex condition.