Autoimmune Polyglandular Syndrome Type 2 a.k.a. Schmidt Syndrome

What is autoimmune polyglandular syndrome type 2 (APS2)?

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 2 (APS2), also commonly known as Schmidt syndrome, is a collection of conditions that affects many organs in the body. When this occurs, glands that are supposed to secrete essential hormones stop producing the normal amount of those hormones. APS2 has three characteristic symptoms, but there are many other conditions that may appear alongside them. This disease is the most common of the autoimmune polyglandular syndromes. It affects women more often than it does men, and is usually diagnosed in adulthood, around ages 30 to 40. Studies suggest that APS2 affects between 14 to 20 people per million. To read about autoimmune polyglandular syndrome type 1 and type 3, click here and here, respectively.

What are the symptoms of autoimmune polyglandular syndrome type 2?

There are many symptoms associated with this disorder; therefore, it is important to note that symptoms can vary greatly from person to person. The major and most prominent symptoms include:

Adrenocortical insufficiency (Addison’s disease): The adrenal glands (located above the kidneys) do not produce enough hormones. This lack of hormones can cause low blood pressure, dehydration, muscle cramps, weakness, faintness, diarrhea, nausea, vomiting, changes in skin color, and a small heart.
Hypothyroidism: 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.
Diabetes type 1: This type of diabetes usually starts in childhood. 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.

Other complications may include the following:

Problems with other endocrine glands
Malnutrition
Celiac disease, a intestinal malabsorption disorder caused by gluten intolerance. Symptoms include weight loss, chronic diarrhea, abdominal cramping, bloating and distortion, intestinal gas, and muscle wasting
Grave’s disease, which negatively impacts the thyroid gland, enlarges the thyroid gland, and causes the eyeballs to protrude
Hypoparathyroidism, which occurs when the parathyroid glands in the neck do not function at the level they should be. This can cause muscle cramps and spasms, rigidity, headaches, excessive nervousness, and seizures
Gonadal failure, in which the gonads (the testes or the ovaries) do not function properly
Vitiligo, which leads to “white spots,” or an absence of pigmentation, on the skin
Pernicious anemia, which causes fatigue, weakness, rapid heartbeat, indigestion, abdominal pain, angina, and anorexia
Myasthenia gravis, a chronic neuromuscular disease that causes weakness and abnormally rapid muscle fatigue

What causes autoimmune polyglandular syndrome type 2?

The exact cause of APS2 is currently unknown. It usually results from one or more abnormal autoimmune responses. Autoimmune responses occur when the body attacks its own tissues. The reason they occur is unclear. Most cases of this disease are sporadic, but some researchers believe there is a combination of genetic and environmental factors that influence the likelihood of developing it.

How is autoimmune polyglandular syndrome type 2 diagnosed?

Diagnosis for APS2 is determined through diagnoses of its component disorders. It includes, but is not limited to, the following tests:

For Addison’s disease:
- Clinical evaluation
- Blood test
- ACTH stimulation test
- Insulin-induced hypoglycemia test
- CT scan
For Hypothyroidism:
- Blood tests that measure the thyroid’s hormone levels
For Diabetes type 1:
- Glycated hemoglobin (A1C) test, which tests the patient’s average blood sugar
- Random blood sugar test
- Fasting blood sugar test

What are the treatments for autoimmune polyglandular syndrome type 2?

APS2 treatment currently targets the specific component diseases that appear in each patient. Treatment includes, but is not limited to:

For Addison’s disease:
- Hormone replacement therapy, either via oral medications or injections
- Ample amounts of sodium
For Hypothyroidism:
- Daily hormone replacement therapy, through oral medication
For Diabetes Type 1:
- Insulin therapy
- Monitoring of blood glucose levels
- Eating healthy
- Regular exercise