What is Cushing's Disease?
Over 100 years ago, no one knew what it was...
Cushing's Disease was discovered by the "father of modern neurosurgery", Dr. Harvey Williams Cushing (1869-1939). Born in Cleveland, Ohio, into a family of physicians, he would later attend Harvard Medical School (Cambridge, MA), majoring in cerebral surgery. He completed his residency at John Hopkins Hospital (Baltimore, MD). After two tours of duty and studying in Europe, Dr. Cushing returned to the United States, where he became well-known for his innovative brain surgeries and correlating teachings. He impressed his medical colleagues with his introduction of the blood pressure meter and his use of x-rays to diagnose brain tumors. Shortly after his 1912 publication on the pituitary gland and associated disorders, Dr. Cushing discovered that pituitary adenomas were responsible for the mayhem caused by a group of signs and symptoms (mainly, hypercortisolism) specific to the endocrine disorder later named Cushing's Disease. After retiring as a neurosurgeon, this medical pioneer made his return to education, this time as a professor of neurology at Yale University (Haven, CT). Since Dr. Cushing's death, many of his writings and brain specimens have been put on display at the National Library of Medicine (Bethesda, MD) and Yale University, respectively.
Cushing's Disease is hell...
...to say the least! Cushing's Disease is many things, but easy it is not. This pituitary-related endocrine disease wreaks havoc on every system in the human body, and there are twelve of them! While each Cushing's Disease patient is the victim of hypercortisolism, there are no two patients exactly alike in how or to what degree the disease impairs their body.
From a medical standpoint, Cushing's Disease is hypercortisolism due to an overactive hormone (ACTH) producing pituitary tumor. The majority of pituitary tumors, called adenomas, tend to be benign. Their effects on the body can be severe, especially if they go undiagnosed for several years. Adenomas are named by their size: micro-adenomas are less than 10 millimeters in size, and macro-adenomas are more than 10 millimeters in size. Just to be clear, size doesn't always determine the severity of the disease. There are cases where patients present with all the signs of Cushing's Disease throughout diagnostic testing, only to get to the final "say-so" (an MRI of the brain) and have the results come back negative for an ACTH-producing tumor. (How maddening is that??) This is because some micro-adenomas are microscopic and therefore undetectable through this type of imaging technology. In this case, another means of testing (IPSS - Inferior Petrosal Sinus Sampling) is required to confirm abnormal pituitary cells or a micro-adenoma.
To this day, the cause of Cushing's Disease (or Cushing's Syndrome) is unknown. Despite all of the extensive research, human study, and gathering of tissue and tumor samples, the origin of these endocrine adenomas that overproduce ACTH or cortisol remains a mystery. It is not thought to be a hereditary disease. Because it is so rare, with only 10-15 people per million being affected each year, ongoing research is needed.
Let's jump back a minute to how Cushing's Disease affects all of the human body. Remember - I mentioned there are twelve body systems. Do you know them all?
Now, imagine living every day with an issue in each of these body systems. Doesn't sound pretty, does it? I can honestly say, at my very worst, I experienced problems in all twelve areas.
I have often compared Cushing's Disease to the aftermath of a tornado. All the chaos and wreckage, despair and hopelessness goes on and on, seemingly forever. After the mass destruction that funnel cloud left in its path, imagine the helplessness its victims must feel. How will they even begin to pick up the bits and pieces of their lives, strewn about in such a jumble of debris? Where do they start? Will they ever get back to that harmonious sense of normalcy they once knew as "life"? That's what it feels like to live with Cushing's Disease. It's a perfect storm that brews for awhile, under just the "right" conditions, and when it finally unleashes its rage, its effects can be incredibly devastating.
Cushing's Disease took away the better part of my health at a young age. I believe I suffered unknowingly with the disease for decades. Puberty seemed to happen overnight, I underwent periods of unexplained and disfiguring weight gain for years, my mind played cruel tricks on me, and I always seemed to have an overall sense of malaise during more recent years when I had several diagnoses under my belt. I like to think, if Dr. Harvey Cushing were alive today, I might be one of his most curious of patients, considering all I've been through!
From a medical standpoint, Cushing's Disease is hypercortisolism due to an overactive hormone (ACTH) producing pituitary tumor. The majority of pituitary tumors, called adenomas, tend to be benign. Their effects on the body can be severe, especially if they go undiagnosed for several years. Adenomas are named by their size: micro-adenomas are less than 10 millimeters in size, and macro-adenomas are more than 10 millimeters in size. Just to be clear, size doesn't always determine the severity of the disease. There are cases where patients present with all the signs of Cushing's Disease throughout diagnostic testing, only to get to the final "say-so" (an MRI of the brain) and have the results come back negative for an ACTH-producing tumor. (How maddening is that??) This is because some micro-adenomas are microscopic and therefore undetectable through this type of imaging technology. In this case, another means of testing (IPSS - Inferior Petrosal Sinus Sampling) is required to confirm abnormal pituitary cells or a micro-adenoma.
To this day, the cause of Cushing's Disease (or Cushing's Syndrome) is unknown. Despite all of the extensive research, human study, and gathering of tissue and tumor samples, the origin of these endocrine adenomas that overproduce ACTH or cortisol remains a mystery. It is not thought to be a hereditary disease. Because it is so rare, with only 10-15 people per million being affected each year, ongoing research is needed.
Let's jump back a minute to how Cushing's Disease affects all of the human body. Remember - I mentioned there are twelve body systems. Do you know them all?
- Circulatory (or Cardiovascular) - circulates red and white (lymph) blood throughout the body; consists of the heart (cardio) and blood vessels (vascular).
- Digestive - consists of hollow and solid organs that are responsible for the consumption and metabolism of food, and elimination of waste. Hollow organs include the mouth, esophagus, stomach, entire intestinal tract (including the rectum), and anus. Solid organs include the liver, gallbladder, and pancreas (also part of the endocrine system).
- Endocrine - group of glands within the human body, responsible for the secretion of hormones to stimulate other organs to do their designated jobs. These glands include the pineal, pituitary, thyroid, thymus, adrenal, and sex glands (ovaries and testes), as well as the pancreas (also part of the digestive system).
- Immune - human body's defense mechanism made up of white blood cells, antibodies, chemicals & proteins that help fight infections.
- Integumentary - involves the skin, hair, finger/toe nails, sweat glands & nerve endings.
- Lymphatic - part of the circulatory & immune system, consisting of nodes & vessels; also called the human body's "drainage" system.
- Muscular - muscles provide movement of organs and body parts, and are categorized by three distinct muscle groups: cardiac, skeletal, and smooth. Cardiac muscles are found in the heart, providing rhythmic contractions. Skeletal muscles move under voluntary control, such as bending your elbow or chewing. Smooth muscles move involuntarily, and can be found within walls of the arteries and respiratory passages.
- Nervous - made up of connective fibers and cells that transmit messages between parts of the body and the brain. This complicated system is divided into the Central (brain & spinal cord) and Peripheral (all nervous tissue beyond the brain & spinal cord) Nervous Systems, and is further broken down into the somatic (conscious control - walking/talking) and autonomic (unconscious control - digestion/pupil dilation) nervous systems. This system is also responsible for behavior, feelings, reflexes, and sensory & motor skills.
- Reproductive - male and female external genitalia and internal sex organs used in combination with each other to produce offspring.
- Respiratory - organs and body structures responsible for supplying oxygen to the body; consists of the nose and mouth, throat, lungs and diaphragm. When we inhale, we breathe in oxygen, and we exhale waste in the form of carbon dioxide.
- Skeletal - our body's skeleton, made up of 206 adult bones and its connective tissues (ligaments, tendons, and cartilage).
- Urinary - also known as the renal system, it is responsible for the production, storage, and excretion of waste from the kidneys (urine). Along with the kidneys, this system is made up of the bladder, ureters (tubes that drain urine from the kidneys to the bladder), and the urethra (passage that directs urine from the bladder out of the body).
Now, imagine living every day with an issue in each of these body systems. Doesn't sound pretty, does it? I can honestly say, at my very worst, I experienced problems in all twelve areas.
I have often compared Cushing's Disease to the aftermath of a tornado. All the chaos and wreckage, despair and hopelessness goes on and on, seemingly forever. After the mass destruction that funnel cloud left in its path, imagine the helplessness its victims must feel. How will they even begin to pick up the bits and pieces of their lives, strewn about in such a jumble of debris? Where do they start? Will they ever get back to that harmonious sense of normalcy they once knew as "life"? That's what it feels like to live with Cushing's Disease. It's a perfect storm that brews for awhile, under just the "right" conditions, and when it finally unleashes its rage, its effects can be incredibly devastating.
Cushing's Disease took away the better part of my health at a young age. I believe I suffered unknowingly with the disease for decades. Puberty seemed to happen overnight, I underwent periods of unexplained and disfiguring weight gain for years, my mind played cruel tricks on me, and I always seemed to have an overall sense of malaise during more recent years when I had several diagnoses under my belt. I like to think, if Dr. Harvey Cushing were alive today, I might be one of his most curious of patients, considering all I've been through!
Signs & SymptomsThe following are based on adult patients with chronic issues as listed below. Remember: not all patients present with the exact same symptoms or level of severity!Circulatory SystemEasy bruising/bleeding, hypertension, high cholesterol, stroke, heart attack, hypokalemia resulting in arrhythmia.
Digestive System |
Endocrine SystemWeight gain, hirsutism, male pattern baldness in women, buffalo hump, upper body obesity, diabetes mellitus, insulin resistance, increased thirst & urination, hypothyroidism, high blood sugar.
Immune SystemRecurrent infections, poor wound healing, fatigue, malaise, muscle weakness, diseases such as Lupus.
Integumentary SystemThinning skin, easy bruising/ bleeding, poor wound healing, purple/pink straie, facial/body acne, moon face, red & ruddy face, dry skin, brittle hair and nails, hirsutism, male pattern baldness in women, numbness or tingling of extremities, increased or excessive sweating, acanthosis nigricans.
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Lymphatic SystemMuscular SystemNervous SystemSleep disorders/insomnia, anxiety, depression, irritability, psychiatric issues, extreme cognitive & spatial impairment, headaches, vision problems, sudden lack of coordination, slow reflexes, mood swings, unexplained fear, sense that "something is not right", numbness or tingling of extremities, detecting odd smells (for example: smelling a foul or smoky odor that seemingly has no origin).
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Reproductive SystemDysmenorrhea, amenorrhea, menorrhagia, irregular menstruation patterns, early or late puberty, growth stunt, reduced sex drive, erectile dysfunction, fertility issues, low output of sex hormones (estrogen - females, & testosterone - males), high androgen production in women.
Respiratory SystemDifficulty breathing, sleep apnea, asthma, easily winded upon minimal exertion.
Skeletal SystemWeak bones (especially ribs, spine, hips and shoulders) that are prone to fractures, joint pain, arthritis, osteoporosis, hypocalcemia.
Urinary SystemHypokalemia, increased/recurrent UTIs, electrolyte imbalance, poor filtration leading to sodium or fluid retention.
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