Bay Biosciences provides high quality, clinical grade bio-specimens, cryogenically preserved sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid samples from patients diagnosed with Addison’s Disease.
The sera (serum), plasma and PBMC biofluid specimens are processed from patient’s peripheral whole-blood using customized collection and processing protocols. The Addison’s Disease bio-specimens are collected from unique patients diagnosed with reactive arthritis and are provided to a valued pharmaceutical customer for research, diagnostics, discovery and drug development.
Detailed clinical data, Addison’s Disease patients history, symptoms, complete blood count (CBC), elevated biomarker levels, genetic and metabolic information, histopathological findings, annotations associated with Addison’s Disease specimens is provided to a valued customer for research, development and drug discovery. The Addison’s Disease sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid are processed from patients peripheral whole-blood using customized collection and processing protocols.
Addison’s Disease Overview
Addison’s disease, also known as primary adrenal insufficiency and hypocortisolism, is a rare long-term endocrine disease characterized by inadequate production of the steroid hormones cortisol and aldosterone by the two outer layers of the cells of the adrenal glands causing adrenal insufficiency.
The adrenal glands are located on top of the kidneys. These glands produce many of the hormones that the body needs for normal functions. Addison’s disease occurs when the adrenal cortex is damaged, and the adrenal glands don’t produce enough of the steroid hormones cortisol and aldosterone. Cortisol regulates the body’s reaction to stressful situations. Aldosterone helps with sodium and potassium regulation. The adrenal cortex also produces sex hormones (androgens).
Causes of Addison’s Disease
Addison’s disease is caused by damage to the adrenal glands, resulting in not enough of the hormone cortisol and, often, not enough aldosterone as well. Your adrenal glands are part of the endocrine system. They produce hormones that give instructions to virtually every organ and tissue in the body.
The adrenal glands are composed of two sections. The interior (medulla) produces adrenaline-like hormones. The outer layer (cortex) produces a group of hormones called corticosteroids. Corticosteroids include:
- Glucocorticoids: These hormones, which include cortisol, influence your body’s ability to convert food into energy, play a role in your immune system’s inflammatory response and help your body respond to stress.
- Mineralocorticoids: These hormones, which include aldosterone, maintain your body’s balance of sodium and potassium to keep the blood pressure normal.
- Androgens. These male sex hormones are produced in small amounts by the adrenal glands in both men and women. They cause sexual development in men, and influence muscle mass, sex drive (libido) and a sense of well-being in both men and women.
There are two major classifications for Addison’s disease:
- Primary Adrenal Insufficiency
- Secondary Adrenal Insufficiency
Primary Adrenal Insufficiency
Primary adrenal insufficiency occurs when your adrenal glands are damaged so severely that they can no longer produce hormones. This type of Addison’s disease is most often caused when your immune system attacks your adrenal glands. This is called an autoimmune disease. In an autoimmune disease, your body’s immune system mistakes any organ or area of the body for a virus, bacteria, or another outside invader.
Other causes of primary adrenal insufficiency include:
- Prolonged administration of glucocorticoids (e.g. prednisone)
- Infections in your body
- Cancer and abnormal growths (tumors)
- Certain blood thinners used to control clotting in the blood
Secondary Adrenal Insufficiency
Secondary adrenal insufficiency occurs when the pituitary gland which is located in the brain cannot produce adrenocorticotropic hormone (ACTH). ACTH tells the adrenal glands when to release hormones. It is also possible to develop adrenal insufficiency if you do not take the corticosteroid medications your doctor prescribes. Corticosteroids help control chronic health conditions like asthma.
There are also many other causes of secondary adrenal insufficiency, including:
- Tumors
- Medications
- Genetics
- Traumatic brain injury
Signs and Symptoms of Addison’s Disease
Addison’s disease symptoms usually develop slowly, often over several months. Often, the disease progresses so slowly that symptoms are ignored until a stress, such as illness or injury, occurs and makes symptoms worse. Signs and symptoms may include:
- Extreme fatigue
- Weight loss and decreased appetite
- Darkening of the skin (hyperpigmentation)
- Low blood pressure, even fainting
- Salt craving
- Low blood sugar (hypoglycemia)
- Headaches
- Nausea, diarrhea, or vomiting (gastrointestinal symptoms)
- Abdominal pain
- Muscle or joint pains
- Irritability
- Depression or other behavioral symptoms
- Body hair loss or sexual dysfunction in women
Acute Adrenal Failure
Sometimes the signs and symptoms of Addison’s disease may appear suddenly. Acute adrenal failure (Addisonian crisis) can lead to life-threatening shock. Following are the signs and symptoms of acute adrenal failure:
- Severe fatigue and weakness
- Confusion
- Pain in the lower back or legs
- Severe abdominal pain, vomiting and diarrhea leading to dehydration
- Reduced consciousness or delirium
Complications of Addison’s Disease
Addisonian crisis
Untreated Addison’s disease patients may develop an Addisonian crisis as a result of physical stress, such as an injury, infections or illness. Normally, the adrenal glands produce two to three times the usual amount of cortisol in response to physical stress. With adrenal insufficiency, the inability to increase cortisol production with stress can lead to an Addisonian crisis. An Addisonian crisis is a life-threatening situation that results in low blood pressure, low blood levels of sugar and high blood levels of potassium (hyperkalemia) and low sodium (hyponatremia).
Diagnosis of Addison’s Disease
After the patients complete medical history is taken and observation of the signs and symptoms, following are some of the diagnostic tests performed to diagnose Addison’s disease:
- Blood test: Tests can measure your blood levels of sodium, potassium, cortisol and adrenocorticotropic hormone (ACTH), which stimulates the adrenal cortex to produce hormones. A blood test can also measure antibodies associated with autoimmune Addison’s disease.
- ACTH stimulation test: ACTH signals the adrenal glands to produce cortisol. This test measures the level of cortisol in the blood before and after an injection of synthetic ACTH.
- Insulin-induced hypoglycemia test: This test may be performed if adrenal insufficiency is suspected as a result of pituitary disease (secondary adrenal insufficiency). The test involves checking the blood sugar (blood glucose) and cortisol levels after an injection of insulin. In healthy people, glucose levels fall and cortisol levels increase. In certain situations doctors may do alternative tests for secondary adrenal insufficiency, such as a low-dose ACTH stimulation test, prolonged ACTH stimulation test or glucagon stimulation test.
- Imaging tests: A computerized tomography (CT) scan of the abdomen may be performed to check the size of your adrenal glands and look for other abnormalities. An MRI scan may also be performed of the pituitary gland if testing indicates you might have secondary adrenal insufficiency.
Risk Factors of Addison’s Disease
Patients may be at a higher risk for Addison’s disease if they have the following conditions:
- Cancer
- Patients on anticoagulants (blood thinners)
- Chronic infections like tuberculosis
- Surgery to remove any part of your adrenal gland
- Having an autoimmune disease, like type-1 diabetes or Graves disease
Treatment of Addison’s Disease
Treatment of Adison’s disease depends on what’s causing the condition, medications may be prescribed to regulate the adrenal glands. Patients are given hormone replacement therapy to correct the levels of steroid hormones that the body is not producing.
Some options for treatment include oral corticosteroids such as:
- Hydrocortisone (Cortef), prednisone or methylprednisolone to replace cortisol. These hormones are given on a schedule to mimic the normal 24-hour fluctuation of cortisol levels.
- Fludrocortisone acetate to replace aldosterone.
Addison’s disease patients will need to get plenty of salt (sodium) in the diet, especially during heavy exercise, when the weather is hot or if when they have gastrointestinal upsets, such as diarrhea.
Temporary increase in your medication dosage may also be suggested by your doctor if your body is stressed, such as from an operation, an infection or a minor illness. If the patients are sick with vomiting and cannot hold down oral medications, they may be given intravenous corticosteroids injections.
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