230 lbs later...

Answer to Mystery Diagnosis #6:

Cushing’s Syndrome

Cushing syndrome is a hormone disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol.  Cortisol is produced by the adrenal gland and is a steroid hormone that helps the body react to physical and emotional stress, metabolize food, and regulate blood pressure. 

Many people can develop Cushing’s because of glucocorticoids, steroid hormones that are chemically similar to cortisol.  People take glucocorticoids to treat asthma, rheumatoid arthritis, lupus, and other inflammatory diseases.  Other people develop Cushing’s because their body produces too much cortisol or by tumors that produce cortisol or adrenocorticotropic hormone (ACTH) or corticotropin-releasing hormone (CRH). 

Signs and Symptoms:

·         Weak muscles

·         Changes in the skin (such as skin that is oily and frail)

·         Changes in mood (such as irritability, anxiety, and depression)

·         Extra fat on back of neck and upper back (buffalo hump)

·         Backaches

·         Loss of muscle tone

·         Hair loss

·         Hair growth that is not normal (such as facial hair in women)

·         High blood pressure

·         High blood sugar levels

·         Obesity (weight gain located on abdomen)

·         Bone loss

·         Headache

Detection:

Cushing’s syndrome can be difficult to diagnose.  A cortisol test, which may be done on a blood or urine sample, is the easiest form to detect Cushing’s. 

Treatment:

Treatment of Cushing’s Syndrome depends on the cause. 

·         Reducing corticosteroid use

·         Surgery (to remove tumor)

·         Radiation therapy

·         Medications: Nizoral, Lysodren, and Metopirone

In Charlotte’s case she had a tumor in her pituitary gland that was causing overproduction of ACTH.  Charlotte saw an Endocrinologist that did blood tests and detected her tumor.  Her tumor was removed and Charlotte has returned to normal, losing about 40 lbs so far. 

Cushing’s syndrome is an extremely rare; an estimated at 13 cases per million individuals.  Cushing’s affects adults between the ages of 20 to 50. 

Works Cited: 

"Cushing's Syndrome-Topic Overview." WebMD - Better Information. Better Health. Web. 28 Nov. 2011. <http://www.webmd.com/a-to-z-guides/cushings-syndrome-topic-overview?page=2>.

"CUSHINGS SYNDROME -- WHAT IT IS AND SYMPTOMS - Topic." Forums. Web. 28 Nov. 2011. <http://community.discovery.com/eve/forums/a/tpc/f/5241904768/

m/50919420001>.

Staff, Mayo Clinic. "Cushing's Syndrome: Causes - MayoClinic.com." Mayo Clinic. Web. 28 Nov. 2011. <http://www.mayoclinic.com/health/cushings-syndrome/DS00470/DSECTION=causes>.

230 lbs later...

Mystery Diagnosis #6

Charlotte was a healthy, attractive, active 31 year-old woman.  Charlotte had long blonde hair and was a size 2 all her life.  Suddenly, out of the blue Charlotte noticed she was beginning to put on weight.  In less than 3 weeks Charlotte gained about 15 lbs and doctors recommended that she keep exercising and dieting.  Charlotte is told that nothing is wrong; however, her body keeps expanding.  When Charlotte gains weight it was mostly in her stomach and upper abdomen.  She gained 100 lbs in only one year.  Charlotte also began to notice her hair was falling out, she had increased fatty tissue around her neck,  and her skin was frail and oily.  Charlotte also found herself not being able to sleep at night, feeling restless.  Charlotte continued to cut down her calories and upped her cardio; however, the weight gain still continued.  


Charlotte, desperate for answers saw a total of 15 highly recommended physicians and specialists.  Still, no one could find an answer.  Charlotte was even labeled a hypochondriac.  Seven years and 230 lbs later, Charlotte decided to take matters into her own hands.  She finally found her answer.

Clinical Manifestations 

Signs and Symptoms:

·         Extreme weight gain

·         Insomnia

·         Oily and frail skin

·         Hair loss

·         Increased fat around the neck 

What do you think?

Zzzzzzzz’s

Answer to Mystery Diagnosis #5:

  

Addison’s Disease

          Addison’s disease is a disorder that occurs when the adrenal glands do not produce an adequate amount of the hormone cortisol (and in some cases the hormone aldosterone).  Addison’s disease affects both men and women equally and people of all ages.  It is characterized by fatigue, weight loss, weakness and low blood pressure (hypotension).  Addison’s disease affects about 1 in 100,000 people. 

 

          The hormone cortisol has many vital tasks that helps the body; maintain blood pressure and heart function, respond to stress, slow the immune system’s inflammatory response, balance the effects of insulin, maintain proper arousal and sense of well-being, and regulates metabolism of proteins, carbohydrates, and fats. 

          The hormone aldosterone helps the body maintain blood pressure and water and salt balance.  When aldosterone levels are low, the kidneys are unable to regulate salt and water balance causing blood volume and blood pressure to drop. 

  

Signs and Symptoms:

·         Muscle weakness

·         Fatigue

·         Weight loss and decreased appetite

·         Darkening of your skin (hyperpigmentation)

·         Low blood pressure, even fainting

·         Salt craving

·         Low blood sugar (hypoglycemia)

·         Nausea, diarrhea or vomiting

·         Muscle or joint pains

·         Irritability

·         Depression

Treatment:

·         The treatment for Addison’s disease involves taking hormones to replace the insufficient amount being produce by the adrenal glands. 

o   For cortisol replacement – hydrocortisone tables

o   For aldosterone replacement –  Florinef (fludrocortisone acetate)

Addison’s disease affects about 1 in 100,000 people.  If left untreated it can cause an “Addisonian crisis” that can be fatal.  “Addisonian crisis” is when a constellation of symptoms cause a severe adrenal insufficiency.  

 JFK is one of the best-known Addison’s disease sufferers.  

Works Cited

"Addison's Disease Causes, Symptoms, Diagnosis, and Treatment on MedicineNet.com." Web. 14 Nov. 2011. <http://www.medicinenet.com/addison_disease/article.htm>.

Staff, Mayo Clinic. "Addison's Disease: Causes - MayoClinic.com." Mayo Clinic. Web. 14 Nov. 2011. <http://www.mayoclinic.com/health/addisons-disease/DS00361/DSECTION=causes>.

Zzzzzzzz’s

Mystery Diagnosis #5

  

Jake, a 13 year old boy went to his pediatrician with a chief complaint of fatigue.  Jake stated that he had been feeling extreme fatigue for a couple of months.  Jake also has been suffering from chronic diarrhea, loss of appetite, and unintentional weight loss.  Jake’s mother stated that he has been moving sluggish and wanted to rule out mono.  Upon physical exam Jake dark patchy skin on his knees and elbows.  Jake was also hypotensive (low blood pressure). 

Similar darkening of skin that Jake has.

Signs and Symptoms:

·         Fatigue

·         Muscle weakness

·         Lack of appetite

·         Unintentional weight loss

·         Diarrhea

·         Dark patchy skin

·         Hypotension

What do you think Jake has?

Hint: He does not have mono.