Managing Type 2 Diabetes

Insights into Managing Type 2 Diabetes

Adults with type 2 diabetes are over twice as likely to die from heart disease as those without diabetes. But studies about how tightly to manage blood pressure and lipid levels have been inconclusive. Two related clinical trials will now help guide doctors.

The landmark Action to Control Cardiovascular Risk in Diabetes (ACCORD) clinical trial is one of the largest studies ever conducted in adults with type 2 diabetes who are at especially high risk of cardiovascular events, such as heart attacks, stroke or death from cardiovascular disease. The multicenter clinical trial tested 3 strategies to lower the risk of major cardiovascular events: intensive control of blood sugar, intensive control of blood pressure and treatment of multiple blood lipids.

ACCORD researchers from 77 medical centers in the United States and Canada studied over 10,000 participants between the ages of 40 and 79 who had type 2 diabetes for an average of 10 years. The participants had pre-existing cardiovascular disease, evidence of subclinical cardiovascular disease, or at least 2 cardiovascular disease risk factors in addition to diabetes. All the participants were enrolled in the ACCORD blood sugar treatment clinical trial and maintained good control of blood sugar levels during the study. In addition, participants were enrolled in either the blood pressure trial or the lipid trial and were treated and followed for an average of about 5 years. The study was sponsored primarily by NIH's National Heart, Lung and Blood Institute (NHLBI).

Results of the ACCORD blood sugar clinical trial were reported in 2008. That trial found that intensively lowering blood sugar to near-normal levels brought a higher risk of death for participants than standard blood sugar control.

The latest results appeared online in 2 reports on March 14, 2010, in the New England Journal of Medicine. In the blood pressure trial, researchers randomly assigned over 4,700 participants with elevated blood pressure to a target systolic blood pressure of either less than 140 mmHg (the standard group) or a normal level of less than 120 mmHg (the intensive group). A variety of medications was used to reach blood pressure goals. The study found that lowering blood pressure to normal levels doesn’t significantly reduce the risk of cardiovascular events overall, although it may reduce the risk of stroke.

In the lipid trial, researchers compared the cardiovascular effects of a statin (simvastatin) to combination therapy of a statin and a fibrate (fenofibrate) in over 5,500 participants. Both statins and fibrates are used to treat abnormal levels of blood lipids. Statins lower LDL, or "bad" cholesterol, and are proven to lower cardiovascular disease risk in people with diabetes. Fibrates primarily lower fats in the blood known as triglycerides and raise HDL, or "good," cholesterol.

Combination therapy appeared to be safe, but didn’t lower the risk of heart attack, stroke or death from cardiovascular disease more than statins alone. "Although our analysis suggests that certain patients may benefit from combination therapy, this study provides important information that should spare many people with diabetes unneeded therapy with fibrates," says Dr. Henry Ginsberg of Columbia University, lead author of the lipid trial.

"ACCORD provides important evidence to help guide treatment recommendations for adults with type 2 diabetes who have had a heart attack or stroke or who are otherwise at especially high risk for cardiovascular disease," says acting NHLBI director Dr. Susan B. Shurin.

It's important to note that the treatments used in the standard control groups have previously been shown to be effective. The findings don’t detract from the fact that controlling blood pressure and LDL cholesterol levels can reduce cardiovascular risk—not only for people with diabetes, but for everyone.

NIH

What is X-linked adrenoleukodystrophy?

X-linked adrenoleukodystrophy is a disorder that occurs most often in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. People with this disorder often have progressive destruction of the fatty covering (myelin) that insulates nerves in the brain and spinal cord. They may also have a shortage of certain hormones caused by damage to the outer layer of the adrenal glands (adrenal cortex). This hormonal deficiency is known as adrenocortical insufficiency.

There are three distinct types of X-linked adrenoleukodystrophy: a childhood cerebral form, an adrenomyeloneuropathy type, and a type called Addison disease only.

Children with the cerebral form of X-linked adrenoleukodystrophy experience learning and behavioral problems that usually appear by the age of 10. Over time the symptoms worsen, and these children may have difficulty reading, writing, understanding speech, and comprehending written material. Additional signs and symptoms of the cerebral form include aggressive behavior, vision problems, and impaired adrenal gland function. The rate at which this disorder progresses is variable; however, total disability within several years is not uncommon.

Signs and symptoms of the adrenomyeloneuropathy type appear between early adulthood and middle age. Affected individuals develop progressive stiffness and weakness in their legs (paraparesis), experience urinary and genital tract disorders, and often show some degree of brain dysfunction. Most people with the adrenomyeloneuropathy type also have adrenocortical insufficiency.

When adrenocortical insufficiency occurs without any other symptoms it is sometimes called Addison disease. People with X-linked adrenoleukodystrophy whose only symptom is adrenocortical insufficiency are said to have the Addison disease only form. Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. Most people initially diagnosed with the Addison disease only form of X-linked adrenoleukodystrophy eventually develop all the signs of adrenomyeloneuropathy by the time they reach middle age.

For reasons that are unclear, different types of X-linked adrenoleukodystrophy can be seen in affected individuals within the same family.

How common is X-linked adrenoleukodystrophy?
The prevalence of X-linked adrenoleukodystrophy is approximately 1 in 20,000 individuals worldwide. This condition occurs with a similar frequency in all populations.

What genes are related to X-linked adrenoleukodystrophy?
Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting molecules into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules. Inside peroxisomes, ALDP is thought to play a role in the breakdown of certain fats (very long-chain fatty acids or VLCFAs).

ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the breakdown of very long-chain fatty acids is disrupted, causing abnormally high levels of these fats in the body. The accumulation of very long-chain fatty acids may be toxic to the adrenal cortex and the myelin membranes that surround many of the nerves in the brain and spinal cord.

Read more about the ABCD1 gene.

How do people inherit X-linked adrenoleukodystrophy?
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. Because females have two copies of the X chromosome, one altered copy of the gene in each cell usually leads to less severe symptoms in females than in males, or may cause no symptoms at all.

Many females who carry one altered copy of the ABCD1 gene do not have any features of X-linked adrenoleukodystrophy; however some females with one altered copy of the gene have medical problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. In affected women, the disorder is usually similar to the adrenomyeloneuropathy type, although it may occasionally impair adrenal gland function. Less commonly, affected females have signs of the childhood cerebral form of this condition
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What is X-linked adrenal hypoplasia congenita?

X-linked adrenal hypoplasia congenita is a disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body.

One of the main signs of this disorder is adrenal insufficiency, which occurs when the adrenal glands do not produce enough hormones. Adrenal insufficiency typically begins in infancy or childhood and can cause vomiting, difficulty with feeding, dehydration, extremely low blood sugar (hypoglycemia), and shock. If untreated, these complications are often life-threatening.

Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive tissues, undescended testicles (cryptorchidism), delayed puberty, and an inability to father children (infertility). Together, these characteristics are known as hypogonadotropic hypogonadism.

The onset and severity of these signs and symptoms can vary, even among affected members of the same family.

How common is X-linked adrenal hypoplasia congenita?

X-linked adrenal hypoplasia congenita is estimated to affect 1 in 12,500 newborns.

What genes are related to X-linked adrenal hypoplasia congenita?

Mutations in the NR0B1 gene cause X-linked adrenal hypoplasia congenita. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions.

Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.

How do people inherit X-linked adrenal hypoplasia congenita?

This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.

In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a NR0B1 mutation may experience adrenal insufficiency or signs of hypogonadotropic hypogonadism such as underdeveloped reproductive tissues, delayed puberty, and an absence of menstruation.

nih

Anabolic-androgenic steroids

Anabolic-androgenic steroids (AAS) are synthetically produced variants of the naturally occurring male sex hormone testosterone. “Anabolic” refers to muscle-building, and “androgenic” refers to increased male sexual characteristics. “Steroids” refers to the class of drugs. These drugs can be legally prescribed to treat conditions resulting from steroid hormone deficiency, such as delayed puberty, as well as diseases that result in loss of lean muscle mass, such as cancer and AIDS.

How Are AAS Abused?

Some people, both athletes and non-athletes, abuse AAS in an attempt to enhance performance and/or improve physical appearance. AAS are taken orally or injected, typically in cycles rather than continuously. “Cycling” refers to a pattern of use in which steroids are taken for periods of weeks or months, after which use is stopped for a period of time and then restarted. In addition, users often combine several different types of steroids in an attempt to maximize their effectiveness, a practice referred to as “stacking.”

How Do AAS Affect the Brain?

The immediate effects of AAS in the brain are mediated by their binding to androgen (male sex hormone) and estrogen (female sex hormone) receptors on the surface of a cell. This AAS–receptor complex can then shuttle into the cell nucleus to influence patterns of gene expression. Because of this, the acute effects of AAS in the brain are substantially different from those of other drugs of abuse. The most important difference is that AAS are not euphorigenic, meaning they do not trigger rapid increases in the neurotransmitter dopamine, which is responsible for the “high” that often drives substance abuse behaviors. However, long-term use of AAS can eventually have an impact on some of the same brain pathways and chemicals—such as dopamine, serotonin, and opioid systems—that are affected by other drugs of abuse. Considering the combined effect of their complex direct and indirect actions, it is not surprising that AAS can affect mood and behavior in significant ways.

AAS and Mental Health
Preclinical, clinical, and anecdotal reports suggest that steroids may contribute to psychiatric dysfunction. Research shows that abuse of anabolic steroids may lead to aggression and other adverse effects. For example, although many users report feeling good about themselves while on anabolic steroids, extreme mood swings can also occur, including manic-like symptoms that could lead to violence. Researchers have also observed that users may suffer from paranoid jealousy, extreme irritability, delusions, and impaired judgment stemming from feelings of invincibility.

Addictive Potential
Animal studies have shown that AAS are reinforcing—that is, animals will self-administer AAS when given the opportunity, just as they do with other addictive drugs. This property is more difficult to demonstrate in humans, but the potential for AAS abusers to become addicted is consistent with their continued abuse despite physical problems and negative effects on social relations. Also, steroid abusers typically spend large amounts of time and money obtaining the drug: this is another indication of addiction. Individuals who abuse steroids can experience withdrawal symptoms when they stop taking AAS—these include mood swings, fatigue, restlessness, loss of appetite, insomnia, reduced sex drive, and steroid cravings, all of which may contribute to continued abuse. One of the most dangerous withdrawal symptoms is depression— when persistent, it can sometimes lead to suicide attempts.

Research also indicates that some users might turn to other drugs to alleviate some of the negative effects of AAS. For example, a study of 227 men admitted in 1999 to a private treatment center for dependence on heroin or other opioids found that 9.3 percent had abused AAS before trying any other illicit drug. Of these, 86 percent first used opioids to counteract insomnia and irritability resulting from the steroids.

What Other Adverse Effects Do AAS Have on Health?

Steroid abuse can lead to serious, even irreversible health problems. Some of the most dangerous among these include liver damage; jaundice (yellowish pigmentation of skin, tissues, and body fluids); fluid retention; high blood pressure; increases in LDL (“bad” cholesterol); and decreases in HDL (“good” cholesterol). Other reported effects include renal failure, severe acne, and trembling. In addition, there are some gender- and age-specific adverse effects:

For men—shrinking of the testicles, reduced sperm count, infertility, baldness, development of breasts, increased risk for prostate cancer

For women—growth of facial hair, male-pattern baldness, changes in or cessation of the menstrual cycle, enlargement of the clitoris, deepened voice

For adolescents—stunted growth due to premature skeletal maturation and accelerated puberty changes; risk of not reaching expected height if AAS is taken before the typical adolescent growth spurt

In addition, people who inject AAS run the added risk of contracting or transmitting HIV/AIDS or hepatitis, which causes serious damage to the liver.

What Treatment Options Exist?

There has been very little research on treatment for AAS abuse. Current knowledge derives largely from the experiences of a small number of physicians who have worked with patients undergoing steroid withdrawal. They have learned that, in general, supportive therapy combined with education about possible withdrawal symptoms is sufficient in some cases. Sometimes, medications can be used to restore the balance of the hormonal system after its disruption by steroid abuse. If symptoms are severe or prolonged, symptomatic medications or hospitalization may be needed.

How Widespread Is AAS Abuse?

Monitoring the Future Survey
Monitoring the Future is an annual survey used to assess drug use among the Nation’s 8th-, 10th-, and 12th-grade students. While steroid use remained stable among all grades from 2007 to 2008, there has been a significant reduction since 2001 for nearly all prevalence periods (i.e., lifetime,** past-year, and past-month use) among all grades surveyed. The exception was past-month use among 12th-graders, which has remained stable. Males consistently report higher rates of use than females: for example, in 2008, 2.5 percent of 12th-grade males, versus 0.6 percent of 12th-grade females, reported past-year use.

NIDA

Cancer of the Adrenal Cortex

The adrenal cortex is the outside layer of the adrenal glands. The adrenal glands are a pair of organs near the front side edge of the kidney; their function is to produce hormones such as glucocorticoid and epinephrine. Cancers in this area are classified as carcinomas and adenomas. Adenomas are generally benign, whereas adrenocortical carcinomas frequently secrete hormones and may cause the patient to develop masculine traits, regardless of the patient’s gender. Pediatric patients with adrenocortical carcinoma often have Li-Fraumeni syndrome, an inherited condition that predisposes family members to multiple cancers, including breast cancer, rhabdomyosarcoma, and osteosarcoma (cancer of the bone).

These tumors can involve the kidneys, lungs, bones and brain. Surgical removal should be attempted but may not always be possible if the tumor has spread widely. Additional treatment may include the use of an artificial hormone that blocks the masculinizing effects of the tumor. The prognosis is generally excellent for patients who have small tumors that have been completely removed by surgery, but prognosis can be poor for patients who have large primary tumors or metastatic disease (disease that has spread to other parts of the body) at diagnosis. Tumor stage is an important factor affecting the chance of recovery for children with adrenocortical tumors. When possible, repeat surgery should be done for tumors that come back and for tumors that spread to the inferior vena cava (a large vein that empties into the heart).

National Cancer Institute

Thymomas and Thymic Carcinoma

A cancer of the thymus (an organ in the chest, behind the breastbone) is not considered a thymoma (cancer) or a thymic carcinoma unless there are cancerous changes of the epithelial cells that cover the organ. The term thymoma usually describes cancers that do not have obvious changes in the epithelial cells. Thymic carcinoma has clear-cut changes of the epithelial cells. Other tumors that involve the thymus gland include lymphoma (cancer that arises in cells of the lymphatic system) and germ cell tumors (tumors that begin in cells that give rise to sperm or eggs); these tumors are not true thymomas or thymic carcinomas.

Thymomas and thymic carcinomas are rare in adults as well as children. Various diseases and syndromes are associated with thymomas, including myasthenia gravis, polymyositis, systemic lupus erythematosus, rheumatoid arthritis, thyroiditis, Isaacs syndrome or neuromyotonia (a rare nerve disorder that causes constant muscle stiffness and cramping), and pure red cell aplasia. Endocrine (hormonal) disorders such as hyperthyroidism, Addison’s disease, and panhypopituitarism can also be associated with a diagnosis of thymoma or thymic carcinoma.

Cancer of the thymus may be caused by a specific chromosome change. Every cell in the body contains DNA (genetic material stored inside chromosomes) that determines how the cell looks and acts. Cancer may develop when part of the DNA from chromosome 15 moves to another chromosome, or when chromosome 15 is broken. This type of cancer may appear in the thymus or in other places along the midline of the body, including parts of the airway, the area between the lungs, and the bladder. It usually cannot be cured.

Thymomas and thymic carcinomas are usually located in the front part of the chest and are usually discovered during a routine chest x-ray. Symptoms can include cough, difficulty with swallowing, tightness of the chest, chest pain, and shortness of breath, although nonspecific symptoms may occur. These tumors generally are slow growing but are potentially invasive, with cancer spreading to distant organs or lymph nodes. Surgery is performed with the goal of a complete removal. Radiation therapy is necessary for patients with invasive thymoma or thymic carcinoma, whether or not there has been surgery. Chemotherapy is usually reserved for patients with advanced- stage disease who have not responded to radiation therapy or steroids. The prognosis for patients with invasive thymoma or thymic carcinoma usually is poor, although significantly higher survival rates have been reported for patients with tumors that have not spread to the surrounding areas.

National Cancer Institute

Thyroid Tumors

Tumors of the thyroid (a gland near the windpipe that produces thyroid hormone, which helps regulate growth and metabolism) are classified as adenomas or carcinomas. Adenomas are benign (noncancerous) growths that may cause enlargement of all or part of the gland, which extends to both sides of the neck and can be quite large. Some of these tumors may secrete hormones. Transformation to a malignant carcinoma (cancer) may occur in some cells, which then may grow and spread to lymph nodes in the neck or to the lungs. See the Multiple Endocrine Neoplasia Syndromes (MEN) and Carey Complex section of this summary for more information.

Thyroid cancers occur less often in children and adolescents younger than 15 years, and more often in those aged 15 to 19 years. Most thyroid cancers occur in girls. This cancer usually appears as a lump or mass in the thyroid with possible swelling of the lymph glands in the neck.

Surgery is the treatment required for all thyroid tumors. This is usually removal of all or nearly all of the thyroid and nearby lymph nodes in the neck. Treatment with a radioactive form of iodine is given after surgery to destroy cancer cells and thyroid tissue that remain. After surgery and treatment with radioactive iodine, hormone replacement therapy must be given to compensate for the lost thyroid hormone. Regular checkups are required to determine whether the cancer has spread to the lungs. Patients with thyroid cancer generally have an excellent survival with relatively few side effects. Thyroid tumors that recur (come back) are usually treated with radioactive iodine. Even patients with tumor that has spread to the lungs may expect no decrease in life span after appropriate treatment.

National Cancer Institute

Adrenocortical Carcinoma

Adrenocortical carcinoma is a rare disease in which malignant (cancer) cells form in the outer layer of the adrenal gland.

There are two adrenal glands. The adrenal glands are small and shaped like a triangle. One adrenal gland sits on top of each kidney. Each adrenal gland has two parts. The outer layer of the adrenal gland is the adrenal cortex. The center of the adrenal gland is the adrenal medulla.

The adrenal cortex makes important hormones that:

• Balance the water and salt in the body.
• Help keep blood pressure normal.
• Help manage the body's use of protein, fat, and carbohydrates.
• Cause the body to have masculine or feminine characteristics.

The adrenal medulla makes hormones that help the body react to stress.

Adrenocortical carcinoma is also called cancer of the adrenal cortex. A tumor of the adrenal cortex may be functioning (makes more hormones than normal) or nonfunctioning (does not make hormones). The hormones made by functioning tumors may cause certain signs or symptoms of disease.

Cancer that forms in the adrenal medulla is called pheochromocytoma.

Having certain genetic conditions increases the risk of developing adrenocortical carcinoma.

Anything that increases your risk of getting a disease is called a risk factor.

Having a risk factor does not mean that you will get cancer; not having risk factors doesn’t mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for adrenocortical carcinoma include having the following hereditary diseases:

• Li-Fraumeni syndrome.
• Beckwith-Wiedemann syndrome.
• Carney complex.

Possible signs of adrenocortical carcinoma include pain in the abdomen and certain physical changes.

These and other symptoms may be caused by adrenocortical carcinoma:

• A lump in the abdomen.
• Pain the abdomen or back.

A nonfunctioning adrenocortical tumor may not cause symptoms in the early stages.

A functioning adrenocortical tumor makes too much of a certain hormone (cortisol, aldosterone, testosterone, or estrogen).

Too much cortisol may cause:

• Weight gain in the face, neck, and trunk of the body and thin arms and legs.
• Growth of fine hair on the face, upper back, or arms.
• A round, red, full face.
• A lump of fat on the back of the neck.
• A deepening of the voice and swelling of the sex organs or breasts in both males and females.
• Muscle weakness.
• High blood sugar.
• High blood pressure.

Too much aldosterone may cause:

• High blood pressure.
• Muscle weakness or cramps.
• Frequent urination.
• Feeling thirsty.

Too much testosterone (in women) may cause:

• Growth of fine hair on the face, upper back, or arms.
• Acne.
• Balding.
• A deepening of the voice.
• No menstrual periods.

Men who make too much testosterone do not usually have symptoms.

Too much estrogen (in women) may cause:

• Irregular menstrual periods in women who have not gone through menopause.
• Menstrual bleeding in women who have gone through menopause.

Too much estrogen (in men) may cause:

• Growth of breast tissue.
• Lower sex drive.
• Impotence.

These and other symptoms may be caused by adrenocortical carcinoma. Other conditions may cause the same symptoms. A doctor should be consulted if any of these problems occur.

Imaging studies and tests that examine the blood and urine are used to detect (find) and diagnose adrenocortical carcinoma.

The tests and procedures used to diagnose adrenocortical carcinoma depend on the patient's symptoms. The following tests and procedures may be used:

• Physical exam and history: An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient’s health habits and past illnesses and treatments will also be taken.
• Twenty-four-hour urine test: A test in which urine is collected for 24 hours to measure the amounts of cortisol or 17-ketosteroids. A higher than normal amount of these in the urine may be a sign of disease in the adrenal cortex.
• Low- dose dexamethasone suppression test: A test in which one or more small doses of dexamethasone is given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days.
• High-dose dexamethasone suppression test: A test in which one or more high doses of dexamethasone is given. The level of cortisol is checked from a sample of blood or from urine that is collected for three days.
• Blood chemistry study: A procedure in which a blood sample is checked to measure the amounts of certain substances, such as potassium or sodium, released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.
• Blood tests: Tests to measure the levels of testosterone or estrogen in the blood. A higher than normal amount of these hormones that may be a sign of adrenocortical carcinoma.
• CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.
• MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). An MRI of the abdomen is done to diagnose adrenocortical carcinoma.
• Adrenal angiography: A procedure to look at the arteries and the flow of blood near the adrenal gland. A contrast dye is injected into the adrenal arteries. As the dye moves through the blood vessel, a series of x-rays are taken to see if any arteries are blocked.
• Adrenal venography: A procedure to look at the adrenal veins and the flow of blood near the adrenal gland. A contrast dye is injected into an adrenal vein. As the contrast dye moves through the vein, a series of x-rays are taken to see if any veins are blocked. A catheter (very thin tube) may be inserted into the vein to take a blood sample, which is checked for abnormal hormone levels.
• PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do.

Certain factors affect the prognosis (chance of recovery) and treatment options.

The prognosis (chance of recovery) and treatment options depend on the following:

• The stage of the cancer (the size of the tumor and whether it is in the adrenal gland only or has spread to other places in the body).
• Whether the tumor can be completely removed in surgery.
• Whether the cancer has been treated in the past.
• The patient's general health.

Adrenocortical carcinoma may be cured if treated at an early stage.

National Cancer Institute

Wilson’s Disease

What is Wilson's Disease?

Wilson’s disease (WD) is a rare inherited disorder in which excessive amounts of copper accumulate in the body.  The buildup of copper leads to damage in the kidneys, brain, and eyes.  Although copper accumulation begins at birth, symptoms of the disorder appear later in life.  The most characteristic symptom of WD is the Kayser-Fleisher ring – a rusty brown ring around the cornea of the eye that can best be viewed using an ophthalmologist’s slit lamp. The primary consequence for most of those with WD is liver disease, appearing in late childhood or early adolescence as acute hepatitis, liver failure, or progressive chronic liver disease in the form of chronic active hepatitis or cirrhosis of the liver.  In others, the first symptoms occur later in adulthood and most commonly include slurred speech (dysarthria), difficulty swallowing (dysphagia), and drooling.  Other symptoms may include tremor of the head, arms, or legs; impaired muscle tone, and sustained muscle contractions that produce abnormal postures, twisting, and repetitive movements (dystonia); and slowness of movements (bradykinesia).  Individuals may also experience clumsiness (ataxia) and loss of fine motor skills.  A third of those with WD will also experience psychiatric symptoms such as an abrupt personality change, bizarre and inappropriate behavior, depression accompanied by suicidal thoughts, neurosis, or psychosis.  WD is diagnosed with tests that measure the amount of copper in the blood, urine, and liver.

Is there any treatment?

WD requires lifelong treatment, generally using drugs to remove excess copper from the body and to prevent it from re-accumulating.  Zinc salt, which blocks the absorption of copper in the stomach and causes no serious side effects, is often considered the treatment of choice. Penicillamine and trientine increase urinary excretion of copper; however, both drugs can cause serious side effects.  Tetrathiomolybdate is an investigational drug with a lower toxic profile, but it has not been approved by the Food and Drug Administration for the treatment of WD and its long-term safety and effectiveness aren’t known.  A low-copper diet may also be recommended, which involves avoiding mushrooms, nuts, chocolate, dried fruit, liver, and shellfish.  In rare cases where there is severe liver disease, a liver transplant may be needed.  Symptomatic treatment for symptoms of muscle spasm, stiffness, and tremor may include anticholinergics, tizanidine, baclofen, levodopa, or clonazepam.

What is the prognosis?

Early onset of the disease is worse than late onset in terms of prognosis.  If the disorder is detected early and treated appropriately, an individual with WD can usually enjoy normal health and a normal lifespan.  If not treated, WD can cause severe brain damage, liver failure, and death.  The disease requires lifelong treatment.

NINDS

Pituitary Tumors

What are Pituitary Tumors?

The pituitary is a small, pea-sized gland that hangs from the hypothalamus, a structure at the base of the brain, by a thread-like stalk that contains both blood vessels and nerves.  It controls a system of hormones in the body that regulate growth, metabolism, the stress response, and functions of the sex organs via the thyroid gland, adrenal gland, ovaries, and testes. A pituitary tumor is an abnormal growth of cells within the pituitary gland. Most pituitary tumors are benign, which means they are non-cancerous, grow slowly and do not spread to other parts of the body, however they can make the pituitary gland produce too many hormones, which can cause problems in the body. Tumors that make hormones are called functioning tumors, and they can cause a wide array of symptoms depending upon the hormone affected. Tumors that don’t make hormones are called non-functioning tumors. Their symptoms are directly related to their growth in size and include headaches, vision problems, nausea, and vomiting. Diseases related to hormone abnormalities include Cushing’s disease, in which fat builds up in the face, back and chest, and the arms and legs become very thin; and acromegaly, a condition in which the hands, feet, and face are larger than normal. Pituitary hormones that impact the sex hormones, such as estrogen and testosterone, can make a woman produce breast milk even though she is not pregnant or nursing, or cause a man to lose his sex drive or lower his sperm count. Pituitary tumors often go undiagnosed because their symptoms resemble those of so many other more common diseases.

Is there any treatment?

Generally, treatment depends on the type of tumor, the size of the tumor, whether the tumor has invaded or pressed on surrounding structures, such as the brain and visual pathways, and the individual’s age and overall health. Three types of treatment are used: surgical removal of the tumor; radiation therapy, in which high-dose x-rays are used to kill the tumor cells; and drug therapy to shrink or destroy the tumor. Medications are also sometimes used to block the tumor from overproducing hormones. For some people, removing the tumor will also stop the pituitary’s ability to produce a specific hormone. These individuals will have to take synthetic hormones to replace the ones their pituitary gland no longer produces.

What is the prognosis?

If diagnosed early enough, the prognosis is usually excellent. If diagnosis is delayed, even a non-functioning tumor can cause problems if it grows large enough to press on the optic nerves, the brain, or the carotid arteries (the vessels that bring blood to the brain). Early diagnosis and treatment is the key to a good prognosis.

NINDS

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