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Addison's disease


Información en español Title




Other Names:
Addison disease; Adrenal hypoplasia; Hypoadrenocorticism familial; Addison disease; Adrenal hypoplasia; Hypoadrenocorticism familial; Adrenal aplasia; Adrenal gland hypofunction See More
Categories:
Autoimmune / Autoinflammatory diseases; Congenital and Genetic Diseases; Endocrine Diseases; Autoimmune / Autoinflammatory diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases See More

Summary Summary


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Addison's disease occurs when the adrenal glands do not produce enough (or any) of the hormones, cortisol and aldosterone. These adrenal gland hormones are necessary for balancing water and energy in the body. Symptoms usually develop slowly over time, and may include fatigue, loss of appetite, abdominal pain, and dark patches of skin. Sometimes symptoms occur suddenly causing a life-threatening condition called acute adrenal failure, also known as an acute adrenal crisis. Symptoms of an acute adrenal crisis include sudden weakness, pain, and fainting. The most common cause of Addison's disease is an abnormal response of the body’s immune system. Injury to the adrenal gland can also cause Addison's disease. Diagnosis is based on the the symptoms, blood and urine tests that evaluate adrenal function, and imaging studies. Treatment is focused on managing the symptoms and includes daily medications that replace the adrenal hormones. Treatment for an adrenal crisis may include intravenous hydrocortisone, fluids, and electrolytes, as well as drugs that normalize blood pressure.[1][2][3]
Last updated: 9/9/2020

Symptoms Symptoms


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The following list includes the most common signs and symptoms in people with Addison's disease. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Symptoms may include:[2][3][4]
  • Fatigue
  • Loss of appetite
  • Abdominal pain
  • Mood or behavior changes
  • Dark patches of skin (hyperpigmentation)
  • Muscle weakness or pain
  • Dehydration
  • Low blood pressure
Symptoms typically start in the late teens or early twenties. An acute adrenal crisis can develop in response to stress. This is a medical emergency which can lead to shock or kidney failure if not treated promptly. Symptoms of a crisis include sudden weakness, severe pain, vomiting, diarrhea, and low blood pressure which can lead to fainting. With treatment, this condition does not change over time and the symptoms can be managed.
Last updated: 9/9/2020

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 53 |
Medical Terms Other Names
Learn More:
HPO ID
100% of people have these symptoms
Decreased circulating cortisol level
Low blood cortisol level
0008163
80%-99% of people have these symptoms
Abdominal pain
Pain in stomach
Stomach pain
[ more ]
0002027
Anorexia 0002039
Constipation 0002019
Diarrhea
Watery stool
0002014
Failure to thrive
Faltering weight
Weight faltering
[ more ]
0001508
Fatigue
Tired
Tiredness
[ more ]
0012378
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Increased circulating ACTH level
High blood corticotropin levels
0003154
Muscle weakness
Muscular weakness
0001324
Nausea and vomiting 0002017
Weight loss 0001824
30%-79% of people have these symptoms
Androgen insufficiency 0008226
Decreased circulating aldosterone level
Low blood aldosterone level
0004319
Decreased urinary potassium 0012364
Hyperkalemia
Elevated serum potassium levels
0002153
Hyperkalemic metabolic acidosis 0005976
Hyperuricemia
High blood uric acid level
0002149
Hyponatremia
Low blood sodium levels
0002902
Increased circulating renin level
Elevated blood renin level
0000848
Normocytic anemia 0001897
Renal salt wasting
Loss of salt in urine
0000127
5%-29% of people have these symptoms
Adrenal calcification 0010512
Adrenal hypoplasia
Small adrenal glands
0000835
Arthralgia
Joint pain
0002829
Celiac disease 0002608
Decreased female libido
Decreased female sex drive
0030018
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
0000823
Dry skin 0000958
Generalized bone demineralization 0006462
Hashimoto thyroiditis 0000872
Hypercalcemia
High blood calcium levels
Increased calcium in blood
[ more ]
0003072
Hypoglycemia
Low blood sugar
0001943
Hypoparathyroidism
Decreased parathyroid hormone secretion
0000829
Orthostatic hypotension
Decrease in blood pressure upon standing up
0001278
Premature ovarian insufficiency
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
0008209
Salt craving 0030083
Seizure 0001250
Sparse axillary hair
Limited armpit hair
Little underarm hair
[ more ]
0002215
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes
[ more ]
0100651
Vertigo
Dizzy spell
0002321
Vitiligo
Blotchy loss of skin color
0001045
1%-4% of people have these symptoms
Primary testicular failure 0008720
Thiamine-responsive megaloblastic anemia 0004860
Thymoma 0100522
Percent of people who have these symptoms is not available through HPO
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
0001000
Abnormality of the cardiovascular system
Cardiovascular abnormality
0001626
Adrenal insufficiency 0000846
Apnea 0002104
Autosomal recessive inheritance 0000007
Cyanosis
Blue discoloration of the skin
0000961
Feeding difficulties in infancy 0008872
Vomiting
Throwing up
0002013
Showing of 53 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021

Cause Cause


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In most cases, Addison's disease is caused by an autoimmune reaction that leads to damage to the adrenal cortex (the outer part of the adrenal gland). Less common causes of Addison's disease include repeated infections (such as fungal infections, tuberculosis, or HIV), cancer that spreads to the adrenal glands, trauma, and amyloidosis. Rarely, Addison’s disease runs in families and may be due to a genetic predisposition.[2]
Last updated: 9/9/2020

Diagnosis Diagnosis


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Addison's disease is diagnosed based on symptoms, a clinical exam, and laboratory tests that evaluate adrenal function. In addition, imaging studies such as a chest X-ray and/or a CT scan may be used to look at the size and characteristics of the adrenal gland.[3][4]
Last updated: 9/9/2020

Treatment Treatment


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Treatment for Addison's disease is focused on managing the symptoms. Treatment may include daily medicines that replace the adrenal hormones. Treatment for an adrenal crisis may include intravenous hydrocortisone, fluids, and electrolytes, as well as drugs that normalize blood pressure. People with Addison's disease should carry a medical ID that states the disease and emergency instructions.[2][3]

Specialists involved in the care of someone with Addison's disease may include:
  • Endocrinologist
  • Radiologist
  • Immunologist
Last updated: 9/9/2020

Statistics Statistics


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It has been estimated that about 6 people per 1,000,000 per year develop Addison's disease. The total number of people with this condition at any given time is estimated to be 4-11 per 100,000.[3]
Last updated: 9/9/2020
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
  • The Hormone Health Network has a physician referral directory comprised of endocrinologists who specialize in specific endocrine diseases, including adrenal diseases.
  • The Pituitary Network Association provides a list of pituitary specialists.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Secondary adrenal insufficiency needs to be eliminated. Causes include pituitary tumors, lymphatic hypophystitis, pituitary tuberculosis and sarcoidosis, all of which are differential diagnoses. Infiltrative disorders and other causes of CPAI should be excluded and include tuberculosis (see this term), fungal infections and AIDS-associated opportunistic infections. Genetic disorders, tumors, and treatment with certain drugs are other less common causes of CPAI.
Visit the Orphanet disease page for more information.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Addison's disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

  • The Autoimmune Registry supports research for Addison's disease by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

Organizations Organizations


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Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

  • Adrenal Insufficiency United
    Toll-free: 1-855-AIUnite (248-6483)
    E-mail: contact@aiunited.org
    Website: http://aiunited.org/
  • Hormone Health Network
    Toll-free: 1-800-HORMONE (1-800-467-6663)
    E-mail: hormone@endocrine.org
    Website: https://www.hormone.org
  • National Adrenal Diseases Foundation (NADF)
    P.O. Box 566
    Lake Zurich, IL 60047
    Telephone: +1-(847) 726-9010
    E-mail: nadfmail@nadf.us
    Website: https://www.nadf.us
  • Pituitary Network Association
    P.O. Box 1958
    Thousand Oaks, CA 91358
    Telephone: +1-805-499-9973
    Fax: +1-805-480-0633
    E-mail: info@pituitary.org
    Website: https://pituitary.org/

Organizations Providing General Support

  • Alex The Leukodystrophy Charity (Alex TLC)
    45 Peckham High Street
    London, SE15 5EB United Kingdom
    Telephone: 020 7701 4388
    E-mail: info@alextlc.org
    Website: https://www.alextlc.org
  • American Autoimmune Related Diseases Association (AARDA)
    19176 Hall Road, Suite 130
    Clinton Township, MI 48038
    Toll-free: 800-598-4668
    Telephone: 586-776-3900
    Fax: 586-776-3903
    E-mail: aarda@aarda.org
    Website: https://www.aarda.org/
Do you know of an organization? We want to hear from you.

Living With Living With


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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

Learn More Learn More


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These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Mayo Clinic has an information page on Addison's disease.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Adrenal Diseases Foundation provides information about Addison's disease.
  • The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) offers information on this condition. Click on the link to view information on this topic.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The The Cleveland Clinic Web site has an information page on Addison's disease. Click on the Cleveland Clinic link to view this page.
  • You and Your Hormones, an education resource from the Society for Endocrinology, provides information about Addison's disease.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Merck Manual for health care professionals provides information on Addison's disease.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Addison's disease. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References


  1. Addison’s Disease. National Organization for Rare Disorders (NORD). 2018; https://rarediseases.org/rare-diseases/addisons-disease/#supporting-organizations.
  2. Barthel A, Benker G, Berens K, et al. An Update on Addison's disease. Exp Clin Endocrinol Diabetes. 2019; 127(2-03):165-175. https://pubmed.ncbi.nlm.nih.gov/30562824.
  3. Munir S, Waseem M. Addison Disease. StatPearls [Internet] Treasure Island (FL): StatPearls Publishing. July 2020; https://pubmed.ncbi.nlm.nih.gov/28723023.
  4. Betterle C, Presotto F, Furmaniak J. Epidemiology, pathogenesis, and diagnosis of Addison's disease in adults. J Endocrinol Invest. 2019; 42(12):1407-1433. https://pubmed.ncbi.nlm.nih.gov/31321757.
  5. Betterle C, Garelli S, Presotto F, Furmaniak J. From Appearance of Adrenal Autoantibodies to Clinical Symptoms of Addison's Disease: Natural History. Front Horm Res. 2016; 46:133-145.
Do you know of a review article? We want to hear from you.
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You can help advance rare disease research!
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