Addison's Disease Symptoms: Detecting Adrenal Insufficiency

Detecting Addison’s Disease: Hormonal Imbalance & Health Risks

Addison's disease, also known as primary adrenal insufficiency, is a rare but serious endocrine disorder in which the adrenal glands do not produce enough cortisol and aldosterone. These hormones are essential for regulating blood pressure, metabolism, immune function, and the body’s response to physical and emotional stress.

Globally, Addison’s disease affects an estimated 100 to 140 people per million, making it a condition that is often underrecognised. If left untreated, Addison’s disease can lead to a life-threatening condition called an Addisonian crisis, triggered by stress or injury.

Fortunately, with timely diagnosis and lifelong hormone replacement therapy, individuals with Addison’s can lead healthy, manageable lives while avoiding major complications. Continue reading to learn about the symptoms of Addison’s disease.

What are the symptoms of Addison's disease?

Here are the key symptoms that may indicate Addison’s disease, which can vary in severity and develop gradually over time:

• Chronic Fatigue : Extreme tiredness that does not improve with rest is a key feature of Addison's disease. Low cortisol levels disrupt energy regulation, leaving individuals drained even after minimal activity, affecting both physical and mental stamina.
• Muscle Weakness : Due to low cortisol and unbalanced electrolytes (especially sodium and potassium), muscle weakness is common. Individuals may struggle to perform even simple physical tasks, such as climbing stairs or standing for prolonged periods.
• Unexplained Weight Loss : Weight loss occurs despite any changes to diet. Loss of appetite, hormonal imbalances, and muscle breakdown contribute to reduced body mass, often leading to a gaunt or pale appearance.
• Low Blood Pressure (Orthostatic Hypotension) : Insufficient aldosterone levels result in low blood pressure, especially when standing. This can lead to dizziness, blurred vision, and fainting, as the body struggles to maintain blood volume and sodium balance.
• Salt Cravings : A distinct symptom of Addison's is intense cravings for salty foods. As aldosterone levels drop, the body loses sodium and attempts to restore balance through intense cravings, helping to differentiate Addison's from other illnesses.
• Hyperpigmentation (Darkened Skin) : Elevated ACTH (adrenocorticotropic hormone) levels in Addison's disease stimulate increased melanin production, leading to gradual skin darkening, particularly in areas of friction, such as elbows, knees, and gums. This darkening can resemble a suntan.
• Nausea, Vomiting, and Diarrhoea : Digestive issues, including frequent nausea, vomiting, and diarrhoea, are common. These symptoms contribute to dehydration, electrolyte imbalances, and nutrient loss and may resemble common gastrointestinal conditions, complicating diagnosis.
• Abdominal Pain : Vague and often recurring abdominal discomfort can stem from the hormonal imbalances affecting digestive functions. This pain is usually unexplained and can range from mild to severe, complicating the diagnosis of Addison's disease.
• Mood Changes (Depression/Irritability) : Cortisol and other adrenal hormones influence mood regulation. As these hormones are deficient, individuals may experience irritability, anxiety, or depression, which can significantly impact their emotional well-being and quality of life.
• Low Blood Sugar (Hypoglycaemia) : In children, low cortisol can lead to dangerously low blood sugar levels, causing symptoms such as shakiness, sweating, confusion, and even fainting. The body’s inability to regulate glucose, especially during fasting or stress, is a serious concern.

What are the causes of Addison's disease?

Here are the primary causes that can lead to the development of Addison’s disease, ranging from autoimmune conditions to infections and other underlying health factors:

• Autoimmune destruction
• Tuberculosis (TB)
• Fungal infections
• Opportunistic infections (e.g., CMV, TB) in immunocompromised individuals such as those with HIV/AIDS, or certain medications
• Cytomegalovirus (CMV)
• Adrenal haemorrhage
• Cancer
• Genetic conditions
• Surgical removal of the adrenal glands
• Use of certain medications
• Amyloidosis or sarcoidosis

How is Addison's Disease Diagnosed?

Several tests and evaluations are used to diagnose Addison’s disease, helping to confirm the condition and differentiate it from other disorders with similar symptoms. Listed below are some of the standard diagnostic approaches:

• Morning Serum Cortisol: A low cortisol level (usually <3 µg/dL) measured early morning strongly suggests adrenal insufficiency.
• ACTH Stimulation Test (Synacthen Test):Synthetic ACTH is administered, and cortisol levels are measured before and after. In Addison's, cortisol fails to rise adequately.
• Plasma ACTH Levels: Elevated ACTH levels with low cortisol confirm primary adrenal insufficiency (Addison's disease).
• Electrolyte and Blood Chemistry Panel: Common abnormalities include hyponatraemia (low sodium), hyperkalaemia (high potassium), and hypoglycemia (low blood sugar).
• Adrenal Autoantibody Testing: Detection of 21-hydroxylase antibodies confirms autoimmune adrenalitis, the most common cause of Addison's disease in developed countries.
• Abdominal Imaging: A CT scan of the abdomen can detect adrenal gland abnormalities such as enlargement, calcification (e.g., from tuberculosis), hemorrhage, or atrophy, which help identify the cause of primary adrenal insufficiency.
• Renin and Aldosterone Levels: Measuring plasma renin activity and aldosterone levels helps assess aldosterone deficiency, primarily present in Addison's disease, especially in the primary form.

What are the treatment options for Addison’s disease?

The following are the primary treatment options for managing Addison's disease, aimed at replacing the deficient hormones and preventing complications associated with the condition:

• Glucocorticoid Replacement: Hydrocortisone is the preferred first-line therapy and is typically given in divided doses to mimic natural cortisol secretion. Alternatives like prednisolone or, less commonly, dexamethasone may also be used.
• Mineralocorticoid Replacement: For primary Addison's, fludrocortisone replaces aldosterone to regulate sodium balance, blood pressure, and fluid levels.
• Salt Supplementation: Increased salt intake may be necessary during hot weather, exercise, or excessive sweating to prevent dehydration.
• Stress Dose Adjustments: To prevent an Addisonian crisis, glucocorticoid doses should be temporarily increased during illness or surgery.
• Patient Education: Patients must understand the importance of lifelong hormone replacement therapy and how to adjust medication during stressful situations.
• Emergency Hydrocortisone Injection: Patients are typically given an injectable form of hydrocortisone to carry in case of an adrenal crisis.
• Regular Monitoring and Follow-up: Ongoing blood tests and doctor visits are necessary to monitor hormone levels and adjust dosages.

Managing Addison's Disease and Preventing Complications

Here are some key strategies for reducing the risk of developing Addison’s disease or managing the condition effectively once diagnosed, focusing on early detection and appropriate medical care:

1. Early Detection in High-Risk Populations: Regular screening for individuals with a family history of autoimmune diseases or conditions linked to Addison’s can lead to early detection.
2. Management of Autoimmune Conditions: Treating autoimmune diseases such as type 1 diabetes or thyroid disorders may reduce the risk of developing Addison's.
3. Timely Treatment of Infections: Preventing and treating infections such as tuberculosis can help reduce the risk of secondary adrenal insufficiency.
4. Patient Education on Stress Management: Educating patients on recognising signs of an adrenal crisis and using stress-dose glucocorticoids can help prevent complications.
5. Adherence to Hormone Replacement Therapy: Strict adherence to prescribed medication is crucial in preventing the progression of Addison's and associated complications.
6. Regular Monitoring: Continuous monitoring of adrenal function helps prevent disease worsening and ensures timely medication adjustments.