Addison’s Disease (Primary Adrenal Insufficiency)

Endocrine diseases Adrenocortical insufficiency

Addison’s Disease (Primary Adrenal Insufficiency)

IMPORTANT INFORMATION

The information on the Rare Awareness Rare Education (RARE) Portal is intended for educational purposes only and does not replace professional advice.

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Please seek support from qualified healthcare professionals to learn more about the most suitable care and support options for you.

For more information on this disease, please refer to RVA Partner, Australian Addison’s Disease Association Inc.¹

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.

Contributors

Information for this page has been supplied by Australian Addison’s Disease Association Inc.¹

Emergency Management

There may be special considerations for the emergency management of individuals living with Addison’s disease presenting to emergency departments.

Individuals with Addison’s disease may experience an adrenal crisis, which is a medical emergency. It requires immediate medical attention and administration of hydrocortisone injection and potentially other treatment.^1-3 An endocrinologist should be consulted as soon as possible and admission to an intensive care unit may be required.³ Symptoms may include, but are not limited to, sudden weakness, abdominal pain, vomiting, dizziness, confusion, low blood sugar and low blood pressure.^1,2In addition, patients often have comorbidities that should be considered during emergency treatment of an adrenal crisis.

Information about ambulance protocols for adrenal insufficiency, provided by individual state and territory ambulance services, are listed at Australian Addison’s Disease Association Inc.: Ambulance Protocols.

For individuals with Addison’s disease, it is important to have an up-to-date emergency plan and knowledge of administering emergency medication.³It is recommended that individuals wear a MedicAlert bracelet or pendant and have ambulance cover.³Below are resources that may be useful in preparing for, and to be used in, emergency situations:

Endocrine Society of Australia: Adrenal Insufficiency Resources includes a sick day management plan and a steroid card for use in emergency situations.
Australian Addison’s Disease Association Inc. also has resources to help individuals with Addison’s disease deal with the onset of an adrenal crisis.

Clinical Care Guidelines

Clinical Practice Guideline: Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline was developed in 2015 by a task force which included an Australian-based specialist.

Addison disease – diagnosis and initial management³ is a 2010 focus article in the Australian Family Physician, a peer-reviewed journal of The Royal Australian College of General Practitioners (RACGP).

Synonyms

Addison disease, Autoimmune Addison disease; Autoimmune adrenalitis; Classic Addison disease; Primary Addison disease

ORPHA:85138

ICD-11: 5A74.0

Summary

Addison’s disease, also known as primary adrenal insufficiency, is a condition that affects the adrenal glands of the endocrine system involved in the production of hormones.^1,4 In Addison’s disease, the adrenal glands do not produce any, or enough, cortisol and aldosterone hormones that are important for regulating body processes such as metabolism and blood pressure.⁵ This is most commonly due to an autoimmune condition, in which the body is attacking its own adrenal glands; however, there can be other causes resulting in the adrenal glands not functioning properly. Addison’s disease differs from secondary adrenal insufficiency (where it is the pituitary gland that is directly affected, causing the adrenal gland not to release cortisol).^1,2

Symptoms of Addison’s disease may include, but are not limited to, fatigue, weakness, nausea, loss of appetite, abdominal pain, salt cravings and darkening of the skin or mucous membranes.^1,4 Symptoms often develop slowly over time⁴ and are often mistaken for more common conditions.⁶A life-threatening complication of Addison’s disease is acute adrenal failure, known as adrenal crisis or Addisonian crisis, and requires immediate medical treatment.^2,3 Adrenal crisis can be brought upon by factors (such as stress, dehydration, trauma or infection) that affects cortisol levels. It can also occur if an individual with adrenal insufficiency does not receive appropriate treatment or misses a dose of their medication.^1-3

Useful Links for Professionals

Australian Addison’s Disease Association Inc.: For Medical Professionals

The Royal Australian College of General Practitioners (RACGP) – Australian Family Physician (AFP): Addison disease – diagnosis and initial management

The Royal College of Pathologists of Australasia (RCPA): Adrenocortical insufficiency

Orphanet: Addison disease

Human Phenotype Ontology: Addison Disease

Symptoms

Symptoms of Addison’s disease may include^1,2:

Loss of appetite, nausea, vomiting, diarrhoea, weight loss, abdominal pain
Fatigue, weakness, headache, dizziness (especially on standing)
Difficulty concentrating, mood swings, depression
Salt cravings and darkening of skin and mucous membranes
Irregular menstruation in women
Low blood pressure

Adrenal crisis can be a life-threatening complication of Addison’s disease and is a medical emergency (requires immediate medical attention).^1-3 Symptoms may include, but are not limited to, altered level of consciousness and confusion, seizures, low blood pressure (hypotension), as well as symptoms indicative of low blood sugar (hypoglycaemia), low blood sodium levels (hyponatraemia) or high potassium levels in the blood (hyperkalaemia), in addition to the other symptoms of Addison’s disease.³

Untreated chronic Addison’s disease can lead to symptoms such as memory impairment, confusion, apathy, depression, psychosis and even death.^1,3

Cause/Inheritance

Addison’s disease occurs when the adrenal glands stop producing the hormones, cortisol and aldosterone (primary adrenal insufficiency).⁴ This is most commonly due to an autoimmune condition, however there may be other causes in which the adrenal gland is affected, such as cancer, injury, infection or surgery. Addison’s disease could also be a feature of genetic conditions, such as congenital adrenal hyperplasia and adrenoleukodystrophy.²

Diagnosis

Diagnosis of Addison’s disease may be made based on medical history, physical examination and a blood test.³ The blood test is usually performed in the early morning as cortisol levels decrease over the day. Individuals with Addison’s disease often have low cortisol, low aldosterone, high adrenocorticotropic hormone (ACTH), low blood sugar, low sodium, high potassium and high renin levels.^1-3

A corticotropin stimulation test (or Synacthen test), to identify low cortisol response to administration of synthetic ACTH, may also be used as a diagnostic tool for adrenal insufficiency.^3,7 It should only be performed under controlled circumstances in a hospital setting.³

Imaging of the adrenal glands may also be performed.^1,4

Differential diagnosis should be performed to exclude the diagnosis of secondary adrenal insufficiency.⁶

Treatment

Treatment of Addison’s disease involves long-term steroid replacement therapy, which is given orally as a tablet.^1-3 It is crucial for individuals with Addison’s disease to adhere to their therapy to reduce the possibility of adrenal crisis. Regular blood tests and specialist reviews are essential to optimise the required dose of steroids^1-3, which may change over time, particularly with growing children.³

In the case of adrenal crisis, medical treatment, such as an administration of intravenous (IV; injection into veins) hydrocortisone, should be given immediately as it is a medical emergency.^1-3

It is important for doctors to ensure that their patients have an up-to-date emergency plan and know how to recognise the signs of an adrenal crisis as well as what to do in an emergency.³ Individuals living with Addison’s disease should always have a ready-to-use and non-expired vial of emergency hydrocortisone. It is also recommended to wear a MedicAlert bracelet or pendant and have ambulance cover.³

It is best to speak with your medical team to learn more about the possible management strategies for Addison’s disease and its associated symptoms.

Clinical Care

Healthcare professionals involved in the treatment of Addison’s disease may include general practitioners (GP), physicians, endocrinologists, and endocrine nurses. The need for different healthcare professionals may change over a person’s lifetime and extend beyond those listed here.^1,4

The Endocrine Society of Australia – Search For An Endocrinologist – clinical endocrinologists (that are members of the Endocrine Society of Australia) are listed by state, suburb and areas of interest.

Research

Please visit Australian Clinical Trials to learn about clinical trials for Addison’s disease in Australia; there may not be any clinical trials currently available.

Information regarding clinical trials for Addison’s disease in other countries can be found at ClinicalTrials.gov; there may not be any clinical trials currently available.

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Rare Disease Organisation(s)

Australian Addison’s Disease Association Inc.RVA Partner Australian Organisation
Website: https://addisons.org.au
Phone: +61 (0) 455 534 472
Email: [email protected]
Contact form: https://addisons.org.au/contact-us/

The goal of Australian Addison’s Disease Association Inc. is to provide valuable information and resources for those with Addison’s disease and adrenal insufficiency as well as their carers, medical practitioners and the wider community. The Association also offers a network of support for those medically diagnosed with Addison’s disease/adrenal insufficiency.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance.

Please visit the National and State Services pages.

Mental Health

Please visit the ‘Mental Health’ sections listed on the National and State Services pages.

Other

Further information on Addison’s disease can be found at:

References

Australian Addison’s Disease Association Inc. Accessed 23 August 2023. https://addisons.org.au/
Australian Addison’s Disease Association Inc. Addison’s Disease & Adrenal Insufficiency: Diagnosis & Treatment. 4p. https://addisons.org.au/wp-content/uploads/2018/11/ADDI0001_A4_4Page-Brochure_Final.pdf
O’Connell S., Siafarikas A. Addison disease – Diagnosis and initial management. Australian Family Physician. 2010;39(11). https://www.racgp.org.au/getattachment/29c07376-17dc-49b7-845d-f7aa753f6438/Addison-disease.aspx
Genetic and Rare Diseases (GARD) Information Center. Addison disease. Accessed 23 August 2023. https://rarediseases.info.nih.gov/diseases/5740/addison-disease
Adrenal glands. Accessed 23 August 2023. https://www.healthdirect.gov.au/adrenal-glands
Addison disease. Accessed 23 August 2023. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85138
The Royal College of Pathologists of Australasia. Adrenocortical Insufficiency. Accessed 30 August 2023. https://www.rcpa.edu.au/Manuals/RCPA-Manual/Clinical-Problems/A/Adrenocortical-insufficiency

Page Last Updated

30/01/2024 10:20

Endocrine diseases Adrenocortical insufficiency