Autoimmune Polyglandular Syndrome Type 3

What is autoimmune polyglandular syndrome type 3 (APS3)?

Autoimmune polyglandular syndromes (APSs), also called autoimmune polyendocrine syndromes, are a group of rare diseases that all involve autoimmune activity against multiple endocrine organs (like the hypothalamus, thyroid, pancreas, reproductive glands, pituitary gland, adrenal glands, pineal body, etc.). In autoimmune diseases, for unknown reasons the body attacks and damages its own tissues. Autoimmune polyglandular syndrome type 3 (APS3) is made up of a group of autoimmune diseases that occur because of the endocrine glands’ failure to produce their hormones. APS3 is characterized by the symptom of autoimmune thyroiditis, along with another autoimmune disease that is organ-specific. There are a variety of diseases that may appear, which are listed below. Notably, APS3 does not involve the adrenal cortex, the outer part of the adrenal gland. The exact prevalence of APS3 in the United States is unknown, but it most often affects women during middle age. To read about autoimmune polyglandular syndrome type 1 and type 2, click here and here, respectively.

What are the symptoms of autoimmune polyglandular syndrome type 3?

Some physicians divide APS3 into three subsections. The symptoms mentioned are discussed below:

APS3A: autoimmune thyroiditis with diabetes type 1
APS3B: autoimmune thyroiditis with pernicious anemia
APS3C: autoimmune thyroiditis with vitiligo, alopecia or another organ-specific autoimmune disease

The major symptom that appears in APS3 is autoimmune thyroiditis, a disorder that causes hypothyroidism. Hypothyroidism is a condition in which the thyroid gland does not make enough thyroid hormone. This leads to symptoms including: enlarged thyroid gland in the neck, fatigue, weakness, sensitivity to the cold, constipation, puffy face, pale and dry skin, coarse and thinning hair, brittle nails, unexplained weight gain, joint pain, depression, excessive and prolonged menstrual bleeding, and poor memory. Other autoimmune diseases that may appear with this condition include the following:

Diabetes type 1: In this disease, the pancreas doesn’t produce the right amount of insulin needed to metabolize (process) sugar, which is what produces energy. Symptoms include frequent urinating, constant hunger and thirst, weight loss, itching skin, impaired vision, weakness, slow-healing wounds, and developmental delay.
Pernicious anemia: A decrease in red blood cells that occurs when intestines don’t absorb vitamin B12. It can cause fatigue, weakness, rapid heartbeat, loss of appetite, pale skin, indigestion, abdominal pain, chest pain, problems concentrating, and anorexia.
Vitiligo: A skin condition that causes uneven “white spots,” or an absence of pigmentation, on areas of the skin, even though the skin feels normal.
Alopecia: Partial or complete hair loss.
Myasthenia gravis: A chronic neuromuscular disease that causes weakness, abnormally rapid muscle fatigue, difficulty breathing and swallowing, impaired vision, and facial weakness and paralysis.
Sjogren’s syndrome: An autoimmune disorder that destroys the glands that produce tears and saliva. This causes symptoms like dry eyes and mouth, itching eyes, mouth sores, teeth decay, gum inflammation, difficulty swallowing, difficulty eating, loss of sense of taste, hoarseness, problems speaking, fatigue, fever, joint pain, gland swelling, skin rash, and nausea.

What causes autoimmune polyglandular syndrome type 3?

The exact cause of APS3 is unknown. It likely involves mutations of multiple genes (polygenic inheritance).

How is autoimmune polyglandular syndrome type 3 diagnosed?

Diagnosis for APS3 is determined through diagnoses of its component disorders. Diagnostic tests include, but are not limited to:

For autoimmune thyroiditis/hypothyroidism:
- Blood tests that measure the thyroid’s hormone levels
- Physical examination
For diabetes type 1:
- Glycated hemoglobin (A1C) test, which tests the patient’s average blood sugar
- Random blood sugar test
- Fasting blood sugar test
For pernicious anemia:
- Complete blood count
- Reticulocyte count
- Schilling test
- Tests that measure: LDH level, MMA level, Vitamin B12 level, and/or levels of antibodies against IF
- Bone marrow examination
For vitiligo:
- Physical examination
- Skin biopsy
For myasthenia gravis:
- Detailed neurological examination
- CT scan
- MRI
- Pulmonary function test
- Nerve conduction studies
- Electromyography (EMG)
For alopecia:
- Blood tests
- Skin biopsy of the scalp
For Sjogren’s syndrome:
- Complete physical exam
- Blood tests
- Biopsy
- X-rays

What are the treatments for autoimmune polyglandular syndrome type 3?

APS3 treatment currently targets the specific component diseases that appear in each patient. It may also be influenced by which specific organ has been affected. Treatment includes, but is not limited to:

For autoimmune thyroiditis/hypothyroidism:
- Daily hormone replacement therapy, through oral medication
For diabetes type 1:
- Insulin therapy
- Monitoring of blood glucose levels
- Eating healthy
- Regular exercise
For pernicious anemia:
- Monthly shots of vitamin B12
- Vitamin B12 supplements
- Changes in diet
For vitiligo:
- Phototherapy
- Laser treatment
- Topical medicines
- Skin graft
- Makeup and skin dye to mask the vitiligo
For myasthenia gravis:
- Lifestyle changes: resting, using an eye patch for double vision, and avoiding stress and heat exposure
- Medication
- Physical therapy
- Surgery
For alopecia:
- Medication to promote hair growth
- Cosmetic wigs
- Hair transplant
For Sjogren’s syndrome:
- Artificial tears or eye-lubricating ointments to treat dry eyes
- Tiny plugs placed in tear drainage ducts
- Medication