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ID: 257
Category: Autoimmune Disease
CreatedBy: 1
UpdatedBy: 1
createdon: 27 May 2023
updatedon: 29 Jun 2023

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Author: Khoa Tran
Published May 27, 2023
Updated Jun 29, 2023

Table of contents

Autoimmune Polyglandular Syndrome

Etymology and Pronunciation

autoimmune (aw-toh-ih-myoon)
autos (αὐτός) - Greek for "self" or "the same"
immunis - Latin for "exempt" or "free from"

polyglandular (PAH-lee-glan-juh-ler)
poly - Greek for "many"
gland - Refers to an organ or tissue in the body that secretes substances, such as hormones or enzymes, into the bloodstream or body cavities

syndrome (SIN-drohm)
syn - Greek for "together"
dromos (δρόμος) - Greek for "a running" or "a course"
syndrome - A syndrome refers to a group of "symptoms" rather than any individual symptom

History of Autoimmune Polyglandular Syndrome

In 1886, James W Ogle first reported the association between Addison's disease and diabetes mellitus, but it was attributed to tuberculosis-related adrenal gland destruction. Over the next 75 years, only a few cases mentioned this association.

In 1926, Michael Benno Schmidt described two patients with Addison's disease and chronic lymphocytic thyroiditis, even though they did not display signs of thyroid dysfunction. This combination later became known as Schmidt's syndrome.

In 1931, the relationship between Addison's disease, hyperthyroidism, and diabetes mellitus was revealed. It was discovered that the pancreas could be involved in the same pathological process that affected the adrenal and thyroid glands.

During the 1950s and 1960s, significant discoveries advanced our understanding of autoimmune diseases. In 1956, autoantibodies were found in patients with Hashimoto's thyroiditis and Graves' disease. That same year, it was demonstrated that lymphocytic thyroiditis could be induced in animals by immunization with autologous thyroid extracts.

In 1959, the association between Addison's disease and diabetes mellitus was extensively reviewed. Autopsy findings revealed adrenal atrophy and lymphocytic infiltration, suggesting an autoimmune nature of Addison's disease.

In 1974, Type 1 diabetes mellitus was recognized as an autoimmune disease when circulating autoantibodies to pancreatic islets were discovered in patients with Type 1 diabetes mellitus and other autoimmune endocrinopathies.

In 1985, autoantibodies targeting thyroid peroxidase were identified in patients with thyroid microsomal antibodies. This led to the identification of numerous autoantigens involved in organ-specific autoimmune diseases.

In 1980, Miriam Neufeld and Robert M. Blizzard classified autoimmune polyglandular syndromes (APS) into four distinct types based on clinical grounds. Type 2 APS, also known as Schmidt's syndrome, was characterized by the obligatory occurrence of autoimmune Addison's disease along with thyroid autoimmune diseases and/or Type 1 diabetes mellitus.

In 1997, researchers isolated a novel gene called AIRE (autoimmune regulator), which plays a role in regulating gene expression. Mutations in this gene were found to be responsible for the development of APS1.

One significant discovery that helped clarify the syndrome was the development of immunoassays in the 1950s and 60s. These tests allowed researchers to measure the levels of specific hormones and antibodies in the blood, which led to the identification of different autoimmune conditions. Additionally, advances in molecular biology and genetics helped uncover the genetic basis of some types of the syndrome. 

More recently, studies using next-generation sequencing technologies have helped identify additional genetic mutations associated with autoimmune polyglandular syndrome, allowing for more accurate diagnoses and better understanding of the underlying mechanisms. However, there is still much to be learned about this complex disease.

Modern Understanding of Autoimmune Polyglandular Syndrome

Autoimmune polyglandular syndrome (APS) is a rare condition that affects the endocrine system, which is responsible for the production and regulation of hormones.  The condition typically appears in adulthood and can cause a range of symptoms related to hormone imbalances.

People with APS are affected by the immune system attacking their own cells and tissues. In some cases, this can cause damage to the glands that secrete hormones, resulting in a range of conditions known as autoimmune endocrinopathies. These conditions may include hypothyroidism, hyperthyroidism, type 1 diabetes, Addison's disease, and others.

Given that the endocrine system controls a wide range of bodily functions, people with APS may exhibit a range of symptoms. These can include fatigue, weight loss or gain, nausea, vomiting, diarrhea, dizziness, low blood pressure, and more.

Diagnosing APS can be challenging, as symptoms may vary from person to person and may take time to develop. However, a medical professional may be able to diagnose the condition by performing blood tests, evaluating hormone levels, and examining the patient's medical history.

Causes of Autoimmune Polyglandular Syndrome

Autoimmune polyglandular syndrome (APS) is a rare medical condition that is caused by an overactive immune system. The condition develops when the immune system mistakenly attacks healthy cells of the body, which can lead to damage and dysfunction of different organs and tissues in the body. 

The exact cause of APS is not yet known, but researchers have identified certain factors that may increase the risk of developing the condition. These risk factors include genetics, viral infections, exposure to environmental toxins, and hormonal imbalances. 

In some cases, APS may be inherited from parents who carry certain genes that affect the immune system. People who are born with certain genetic mutations are at a higher risk of developing autoimmune disorders such as APS. 

Viral infections can also trigger an autoimmune response in the body. Certain viruses can cause changes in the immune system that lead to the development of autoimmune disorders.

Exposure to environmental toxins can also increase the risk of developing APS. Exposure to toxins such as pesticides, mercury, and lead can cause changes in the immune system that trigger autoimmune responses.

Hormonal imbalances such as those seen in certain endocrine disorders can also increase the risk of developing APS. Imbalances in hormones such as insulin, estrogen, and testosterone can affect the immune system and lead to the development of autoimmune disorders.

Treatments for Autoimmune Polyglandular Syndrome

The treatment for this condition depends on the types of glands that are affected and the severity of the symptoms.

One of the most common treatments for autoimmune polyglandular syndrome is replacement therapy for the hormones that are not being produced by the affected glands. For example, if the thyroid gland is affected, a person may need to take synthetic thyroid hormones to replace the hormones that the gland is not producing.

Another treatment for autoimmune polyglandular syndrome involves suppressing the immune system. This can be done with medications such as corticosteroids or immunosuppressive drugs. By suppressing the immune system, these medications can help to reduce the inflammation and damage caused by the immune system attacking the body's own tissues.

In some cases, surgery may be necessary to remove damaged or malfunctioning glands. However, this is generally only done in severe cases where hormone replacement therapy and immune suppression are not effective.

It is important to work closely with a healthcare provider to develop a treatment plan for autoimmune polyglandular syndrome that is tailored to the individual's specific needs and circumstances. Regular monitoring and adjustments to the treatment plan may be necessary to ensure the best possible outcomes.

Lifestyle Changes

While lifestyle changes cannot cure APS, they can help manage symptoms, support overall health, and potentially reduce disease activity. Here are some lifestyle changes that may be beneficial for individuals with APS:

- Balanced and Nutritious Diet: Adopting a balanced and nutritious diet is essential for supporting the immune system and overall well-being. Include a variety of fruits, vegetables, whole grains, lean proteins, and healthy fats in your meals. Consider working with a registered dietitian who specializes in autoimmune conditions to create a personalized dietary plan.
- Regular Exercise: Engaging in regular physical activity can help improve overall health, boost energy levels, and manage stress. Choose exercises that you enjoy and are suitable for your fitness level. Consult with your healthcare provider before starting any new exercise program.
- Stress Management: Chronic stress can exacerbate autoimmune symptoms. Explore stress management techniques such as meditation, deep breathing exercises, yoga, or engaging in hobbies and activities that bring you joy and relaxation. Prioritizing self-care and finding healthy ways to cope with stress can be beneficial.
- Adequate Sleep: Prioritize getting enough quality sleep. Aim for 7-9 hours of sleep per night and establish a consistent sleep routine. Create a sleep-friendly environment by keeping your bedroom cool, dark, and quiet. If you struggle with sleep disturbances, consult with a healthcare professional for guidance.
- Smoking Cessation: If you smoke, quitting is crucial as smoking can worsen autoimmune conditions and increase the risk of complications. Seek support from healthcare professionals, join smoking cessation programs, or consider using nicotine replacement therapies if needed.
- Limit Alcohol Consumption: Excessive alcohol consumption can negatively impact the immune system and overall health. If you drink alcohol, do so in moderation or consider abstaining entirely.
- Regular Medical Check-ups: Regular medical check-ups are essential for monitoring your condition, managing medications, and addressing any emerging issues promptly. Stay in close communication with your healthcare team and follow their recommended screening and preventive care guidelines.
- Support Networks: Connecting with support networks, such as patient support groups or online communities, can provide emotional support, information sharing, and a sense of belonging. Sharing experiences with others facing similar challenges can be empowering and help you navigate life with APS more effectively.

It's important to remember that lifestyle changes should be discussed with your healthcare provider, who can provide personalized advice based on your specific condition and medical history. They can also coordinate care and make appropriate referrals to specialists as needed.

Symptoms

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1266
Weight loss or gain
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1267
Increased thirst
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1268
Butterfly-shaped rash on the face (malar rash)
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1273
Hair loss
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1276
Swelling of the thyroid (goiter)
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1269
Need to urinate/pee frequently
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1270
Low blood sugar (hypoglycemia)
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1271
Joint pain and stiffness
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1272
Tenderness in joints
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1274
Muscle Weakness
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1275
Fatigue

Confirmation Tests

- Blood test (Autoantibody titers)
- Blood test (for Adrenal hormones)
- Blood test (for endocrine levels)

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