What Doctor Treats Cushing’s Disease? Finding the Right Specialist for Your Care

Cushing’s disease, a condition stemming from prolonged exposure to excessive cortisol, can present a complex diagnostic and treatment journey. If you or someone you know is grappling with symptoms suggestive of this condition, a crucial first question is likely: what doctor treats Cushing’s disease? Understanding the right medical expertise to seek is paramount for effective diagnosis and management. This article delves into the specialization required for Cushing’s disease, the diagnostic process, and the array of treatments available, ensuring you’re well-informed on your path to recovery.

Diagnosing Cushing’s Disease: The Role of an Endocrinologist

Pinpointing Cushing’s disease can be intricate, particularly when it arises from the body’s overproduction of cortisol. Many conditions share overlapping symptoms, making accurate diagnosis a detailed process. The cornerstone of diagnosing and treating Cushing’s disease lies with a specialist known as an endocrinologist.

Endocrinologists are physicians who specialize in the endocrine system, which comprises glands that produce hormones. Hormones are vital chemical messengers that regulate numerous bodily functions. Since Cushing’s disease is fundamentally a hormonal disorder involving cortisol, an endocrinologist’s expertise is indispensable.

Initially, your primary care physician might suspect Cushing’s disease based on your symptoms and medical history. However, due to the complexity of the condition and the need for specialized testing and interpretation, referral to an endocrinologist is the standard practice.

Initial Assessment and Physical Examination

The diagnostic journey often begins with a thorough physical exam conducted by the endocrinologist. They will look for telltale physical signs of Cushing’s syndrome, which can include:

• Moon face: A rounding of the face due to fat accumulation.
• Buffalo hump: Fatty deposits on the upper back and base of the neck.
• Skin changes: Thin skin, easy bruising, and purplish stretch marks (striae) on the abdomen, thighs, arms, and breasts.

These physical signs, combined with your reported symptoms, provide initial clues that guide further diagnostic testing.

Laboratory Tests: Measuring Cortisol Levels

If Cushing’s syndrome is suspected, the endocrinologist will order specific tests to measure cortisol levels in your body. These tests are crucial for confirming the diagnosis and identifying the source of excess cortisol production.

• Urine and Blood Tests: These are fundamental tests to quantify hormone levels, specifically cortisol. A 24-hour urine collection might be required to measure the total amount of cortisol excreted in urine over a day. Blood tests will measure cortisol and adrenocorticotropic hormone (ACTH) levels, which helps differentiate between different types of Cushing’s syndrome. ACTH is a hormone produced by the pituitary gland that stimulates the adrenal glands to produce cortisol.

  • Cortisol Suppression Tests: Your endocrinologist may also employ suppression tests, which involve administering synthetic hormone medications to either stimulate or suppress cortisol production. These tests help assess the responsiveness of your body’s cortisol regulation system. For example, the dexamethasone suppression test is commonly used to see if cortisol production can be suppressed, as it should be in healthy individuals.

• Saliva Test: Cortisol levels naturally fluctuate throughout the day, typically decreasing in the evening. The salivary cortisol test measures cortisol levels in saliva collected late at night. Elevated nighttime salivary cortisol levels can be a strong indicator of Cushing’s syndrome. This test is convenient and can often be done at home.

Imaging Studies: Locating Tumors

Once Cushing’s syndrome is confirmed biochemically, the next step is to determine the underlying cause. Often, Cushing’s syndrome is caused by tumors. Imaging tests play a pivotal role in locating these tumors.

• CT and MRI Scans: These advanced imaging techniques are used to visualize the pituitary and adrenal glands. A CT scan or MRI of the pituitary gland can detect pituitary adenomas, which are benign tumors and the most common cause of Cushing’s disease (a specific form of Cushing’s syndrome). Similarly, CT or MRI scans of the adrenal glands can identify adrenal tumors, which can also cause Cushing’s syndrome.

• Inferior Petrosal Sinus Sampling (IPSS): This highly specialized test is employed when it’s suspected that Cushing’s syndrome is caused by a pituitary adenoma producing ACTH, but the pituitary MRI is inconclusive. IPSS helps distinguish between a pituitary source of excess ACTH and an ectopic source (ACTH-producing tumor in another part of the body, such as the lungs).

  During IPSS, catheters are inserted into veins in the groin or neck and guided to the inferior petrosal sinuses, which are veins draining the pituitary gland. Blood samples are drawn from these sinuses and simultaneously from a peripheral vein (usually in the forearm). ACTH levels are measured in both sets of samples, before and after stimulating the pituitary gland with a hormone called CRH. Significantly higher ACTH levels in the petrosal sinus samples compared to the peripheral sample indicate that the excess ACTH is originating from the pituitary gland, confirming Cushing’s disease.

Ruling Out Other Conditions

It’s crucial to note that symptoms of Cushing’s syndrome can mimic other conditions. The endocrinologist will also work to rule out other potential diagnoses, such as:

• Polycystic Ovary Syndrome (PCOS): A hormonal disorder common among women of reproductive age, which can share symptoms like weight gain and menstrual irregularities.
• Depression and Mental Health Conditions: Certain psychiatric conditions can present with symptoms similar to Cushing’s, such as fatigue and mood changes.
• Eating Disorders: Some eating disorders can also cause hormonal imbalances and physical changes that might resemble Cushing’s.
• Alcoholism: Chronic alcohol abuse can sometimes lead to pseudo-Cushing’s syndrome, a condition that mimics Cushing’s syndrome due to alcohol’s effects on cortisol levels.

A thorough evaluation by an endocrinologist is essential to differentiate Cushing’s syndrome from these and other conditions.

Treatment Options for Cushing’s Disease: A Multifaceted Approach

Once Cushing’s disease is diagnosed and the cause is identified, typically by an endocrinologist, a tailored treatment plan will be developed. The primary goal of treatment is to reduce the body’s cortisol levels and alleviate symptoms. The best approach depends on the underlying cause and severity of the condition.

Reducing Glucocorticoid Medication

The most common cause of Cushing’s syndrome is the prolonged use of glucocorticoid medications, such as prednisone. If this is the case, the endocrinologist will work to gradually and safely reduce the dosage of these medications. It’s critical not to stop or reduce glucocorticoids abruptly, as this can lead to adrenal insufficiency, a dangerous condition where the body doesn’t produce enough cortisol. The endocrinologist will carefully taper the medication while managing the underlying condition for which it was prescribed.

Surgical Intervention: Tumor Removal

For Cushing’s disease caused by tumors, surgery is often the primary treatment. The type of surgery depends on the location of the tumor.

• Pituitary Tumor Surgery: Pituitary adenomas are usually removed by a neurosurgeon, often using a minimally invasive procedure called transsphenoidal surgery. In this procedure, the surgeon accesses the pituitary gland through the nasal passages, avoiding the need for a brain incision. This approach is generally safe and effective for removing pituitary tumors. The neurosurgeon works closely with the endocrinologist in the pre-operative and post-operative phases of care.

• Adrenal Tumor Surgery: Tumors in the adrenal glands can also cause Cushing’s syndrome. General surgeons or surgical oncologists who are experienced in adrenal surgery typically perform adrenal tumor removal. Adrenalectomy, the surgical removal of the adrenal gland, can often be done using minimally invasive techniques, such as laparoscopy, which involves smaller incisions and faster recovery.

• Ectopic ACTH-Secreting Tumor Surgery: In rare cases, ACTH-producing tumors can develop in other organs, such as the lungs, pancreas, or thyroid. The surgical approach for these ectopic tumors depends on their location and can involve various surgical specialists depending on the organ involved (e.g., thoracic surgeon for lung tumors).

Radiation Therapy: Targeting Pituitary Tumors

If pituitary surgery is not completely successful in removing the tumor, or if surgery is not an option, radiation therapy may be considered. Radiation oncologists administer radiation therapy to target and shrink pituitary tumors. Radiation can be delivered in small doses over several weeks (fractionated radiation therapy) or in a single, high dose (stereotactic radiosurgery). Radiation therapy works gradually and its effects on cortisol levels may take months or years to become fully apparent.

Medications: Controlling Cortisol Production

Medications play a crucial role in managing Cushing’s disease, especially when surgery and radiation are not effective or are not immediate options. Endocrinologists prescribe and manage these medications, which work to control cortisol production at the adrenal gland or block the effects of cortisol in the body.

• Adrenal Enzyme Inhibitors: Medications like ketoconazole, metyrapone, osilodrostat, and levoketoconazole directly inhibit enzymes involved in cortisol synthesis in the adrenal glands, thus reducing cortisol production.

• ACTH-Lowering Medications: Pasireotide is a medication that can lower ACTH production from pituitary tumors, consequently reducing cortisol levels.

• Cortisol Receptor Blocker: Mifepristone works differently by blocking the action of cortisol at its receptors in tissues. It doesn’t decrease cortisol production but lessens its effects on the body, particularly useful in managing diabetes or high blood sugar associated with Cushing’s.

Medical therapy is often used in combination with other treatments or as a standalone option when surgery or radiation is not feasible. It’s important to note that medications are generally not a cure for Cushing’s disease but help manage the condition and its symptoms.

Hormone Replacement Therapy

Following surgery, especially bilateral adrenalectomy (removal of both adrenal glands) or pituitary surgery, the body may not produce sufficient cortisol or other hormones. In such cases, hormone replacement therapy becomes necessary. Endocrinologists manage hormone replacement, typically involving cortisol replacement (hydrocortisone) and sometimes aldosterone replacement if the adrenal glands were removed. This replacement is often lifelong after bilateral adrenalectomy. After pituitary surgery, cortisol replacement may be temporary while the body recovers its natural cortisol production, guided by regular blood tests and endocrinologist monitoring.

Lifestyle Adjustments and Supportive Care

Recovering from Cushing’s disease is a gradual process. Lifestyle adjustments and supportive care are vital components of overall management, complementing medical treatments.

• Gradual Increase in Activity: Start with gentle activities and gradually increase exercise levels as strength and energy improve. Avoid high-impact exercises initially to prevent injuries.
• Balanced Nutrition: Adopt a healthy, balanced diet to aid recovery and manage weight gain associated with Cushing’s. Ensure adequate calcium and vitamin D intake to support bone health, as Cushing’s can weaken bones.
• Mental Health Support: Depression and mood changes are common in Cushing’s disease. Seek support from mental health professionals if you experience these issues. Support groups can also provide valuable peer support and understanding.
• Pain Management: Gentle therapies like warm baths, massage, and low-impact exercises can help alleviate muscle and joint pain that may persist during recovery.

Preparing for Your Appointment with an Endocrinologist

If you suspect you may have Cushing’s disease, preparing for your appointment with an endocrinologist is crucial for making the most of your consultation.

What You Can Do:

• Pre-Appointment Instructions: Inquire if there are any specific preparations needed before your appointment or any tests.
• Symptom List: Write down all your symptoms, even those that seem unrelated. Include changes in appearance, mood, energy levels, and any physical discomforts.
• Personal Information: Note down key personal details, including any changes in your relationships, sex life, or emotional well-being. Bringing a photograph of yourself from before the onset of symptoms can be helpful to visually illustrate changes.
• Medication List: Compile a comprehensive list of all medications, vitamins, supplements, and creams you are currently taking or have taken recently, including dosages and durations. Specifically note any steroid medications you’ve used in the past.
• Bring a Support Person: If possible, have a family member or friend accompany you to the appointment to help remember information and provide support.
• Question List: Prepare a list of questions to ask your endocrinologist. Prioritize your concerns and questions about diagnosis, treatment options, and long-term management.

Questions to Ask Your Endocrinologist:

• What is the likely cause of my symptoms?
• What tests do I need, and what do they involve?
• What are my treatment options, and which do you recommend?
• What are the expected outcomes of treatment? Will my symptoms improve, and will my appearance change back?
• Will treatment impact my emotional well-being?
• What are the potential long-term effects of each treatment option, including fertility?
• How will treatment progress be monitored?
• How will my other health conditions be managed alongside Cushing’s treatment?
• Are there any resources, brochures, or websites you recommend for further information and support?

By being well-prepared and informed, you can actively participate in your care and work collaboratively with your endocrinologist to effectively manage Cushing’s disease and improve your quality of life. Remember, the expertise of an endocrinologist is central to navigating the complexities of Cushing’s disease, from accurate diagnosis to tailored treatment and ongoing management.

References

1. Robertson RP, ed. Cushing disease. In: DeGroot’s Endocrinology: Basic Science and Clinical Practice. 8th ed. Elsevier; 2023. https://www.clinicalkey.com. Accessed Dec. 29, 2022.
2. Ferri FF. Cushing disease and syndrome. In: Ferri’s Clinical Advisor 2023. Elsevier; 2023. https://www.clinicalkey.com. Accessed Dec. 29, 2022.
3. Cushing’s syndrome. National Institute of Diabetes and Digestive and Kidney Diseases. https://www.niddk.nih.gov/health-information/endocrine-diseases/cushings-syndrome. Accessed Dec. 28, 2022.
4. Papadakis MA, et al., eds. Cushing syndrome (hypercortisolism). In: Current Medical Diagnosis & Treatment 2023. 62nd ed. McGraw Hill; 2023. https://accessmedicine.mhmedical.com. Accessed Dec. 29, 2022.
5. Nieman LK, eds. Causes and pathophysiology of Cushing’s syndrome. https://www.uptodate.com/contents/search. Accessed Dec. 28, 2022.
6. Nieman LK, eds. Epidemiology and clinical manifestations of Cushing’s syndrome. https://www.uptodate.com/contents/search. Accessed Dec. 28, 2022.
7. Cushing’s syndrome/disease. American Association of Neurological Surgeons. https://www.aans.org/Patients/Neurosurgical-Conditions-and-Treatments/Cushings-Disease. Accessed Dec. 28, 2022.
8. Tritos NA, et al. Advances in the medical treatment of Cushing disease. Endocrinology and Metabolism Clinics of North America. 2023; doi:10.1016/j.ecl.2020.05.003.
9. Cushing’s syndrome and disease. The Pituitary Society. https://pituitarysociety.org/cushings-syndrome-and-cushings-disease. Accessed Dec. 28, 2022.
10. AskMayoExpert. Cushing syndrome. Mayo Clinic; 2021.
11. Schernthaner-Reiter MH, et al. Acute and life-threatening complications in Cushing syndrome: Prevalence, predictors, and mortality. The Journal of Clinical Endocrinology & Metabolism. 2021; doi:10.1210/clinem/dgab058.
12. Ami TR. AllScripts EPSi. Mayo Clinic. Nov. 11, 2022.
13. Nippoldt TB (expert opinion). Mayo Clinic. Feb. 14, 2023.