What Are Autoimmune Polyglandular Syndromes?

Two or more endocrine gland autoimmune diseases can occur in the same patient, and some are also combined with other autoimmune diseases, known as polyendocrine autoimmune syndrome (APS).

Basic Information

English name

polyglandular-autoimmune syndrome

Visiting department

Endocrinology

Common causes

Autoimmune regulatory gene (AIRE) mutations, X-linked immune disorders, etc.

Common symptoms

Intractable constipation, hypothyroidism, spleen, diarrhea, hepatitis, myasthenia gravis, glutenic bowel disease, etc.

Causes of polyendocrine gland autoimmune syndrome

APS is mainly divided into the following types:

1.type

APS- mainly occurs in early childhood and is caused by mutations in the autoimmune regulatory gene (AIRE). May have the following clinical manifestations: cutaneous mucosal candidiasis, hypoparathyroidism, Addison's disease, ectodermal dysplasia, hypogonadism, malignant anemia, type 1 diabetes, refractory constipation, hypothyroidism, no Spleen, diarrhea, hepatitis, etc.

2. Type II

APS- is more common and refers to the occurrence of 2 or more of the following diseases in the same individual: autoimmune hypothyroidism, type 1 diabetes, Addison's disease, vitiligo, pernicious anemia, hair loss, IgA deficiency, Graves disease, pathogens Hypogonadism, myasthenia gravis, glutenic bowel disease, etc.

3. Other APS

X-linked immune dysfunction polyendocrine adenopathy enteropathy syndrome can manifest as early-onset type 1 diabetes, bowel disease, hypothyroidism, lymphadenopathy, hemolytic anemia, and thrombocytopenia. Type B insulin resistance syndrome is caused by anti-insulin receptor antibodies and can be combined with autoimmune thyroid disease and secondary amenorrhea. In POEMS syndrome, 20-50% may have diabetes, and 55-70% suffer from primary hypogonadism.

Clinical manifestations of multiple endocrine gland autoimmune syndrome

The clinical manifestation of patients with polyglandular defect syndrome is the sum of the individual glandular defect manifestations. Individual glands were destroyed in no particular order.

Type I, usually in children or before the age of 35. Hypoparathyroidism is most common, followed by adrenal failure. Chronic mucosal candidiasis is common and diabetes rarely occurs. Usually autosomal recessive.

Type gland failure is generally seen in adults, peaking at the age of 30, involving the adrenal gland and thyroid (Schmidt syndrome) and islets, producing insulin-dependent diabetes mellitus (IDDM). Anti-target organ antibodies are often present, especially anti-P450 cytochrome adrenocortical enzymes. Some patients begin to have symptoms and signs of hyperthyroidism.

Polyendocrine gland autoimmune syndrome

Blood biochemical examination

Adrenal insufficiency can be combined with hyponatremia and mild hyperkalemia. Hypocalcemia and hyperphosphatemia may occur when parathyroidism is combined. Blood sugar is often low, and the glucose tolerance curve is low.

2. Hormone determination

Cortisol, urinary UFC, and ACTH levels increased in patients with primary hypocortical function. Patients with hypoparathyroidism have no detectable or significant reduction in blood thyroid hormone (PTH). In patients with primary hypogonadism, blood follicle stimulating hormone (FlH) increases luteinizing hormone (LH), and estradiol (E ₂ ) and testosterone levels are reduced or undetectable.

3. Pituitary hormone stimulation target gland test.

4. Determination of anti-endocrine gland antibodies in blood

Determination of anti-adrenal antibody, anti-islet cell antibody, anti-insulin antibody, islet 63.49ku (64kd) antibody, parathyroid antibody, anti-thyroid antibody, anti-gastric cell antibody and internal factor antibody are helpful for the diagnosis of the cause.

5. CT or MRI.

Diagnosis of multiple endocrine gland autoimmune syndrome

Based on the above clinical manifestations and laboratory test results, the diagnosis is not difficult.

Treatment of polyendocrine gland autoimmune syndrome

The main measure of treatment is hormone replacement therapy to correct insufficient hormone secretion.

Hypothyroidism treatment

(1) General treatment Supplement iron, vitamin B ₁₂ and folic acid.

(2) Replacement therapy TH replacement therapy. Levothyroxine (LT ₄ , Letex, Troxal) was taken orally, and the dosage was adjusted for long-term maintenance after 2 to 3 months based on thyroid function measurement. Dry thyroid: Taken orally, adjust dosage according to nail function measurement for long-term maintenance after 2 to 3 months.

(3) Treatment of myxedema coma Intravenous injection of LT ₃ . The patient was taken orally when he was awake. Those without injection were given T ₄ tablets or dry thyroid, administered by gastric tube, and changed to conventional replacement therapy after awakening. Appropriate body fluids and etiological treatment.

2. Treatment of secondary hypogonadism

Male patients can be treated with gonadotropins, such as human chorionic gonadotropin or human menopausal gonadotropin. During testosterone replacement therapy, you should pay attention to side effects of the drug, such as aromatizing testosterone in the body to estradiol, changing the ratio of serum testosterone to estradiol, breast tenderness or feminization of male breasts can occur; exogenous testosterone can inhibit gonadotropins Hormone release and testicular spermatogenesis should be used with caution in patients with non-fertile secondary hypogonadism. Liver function and red blood cells should be tested regularly during treatment.

However, multiple defects (such as insufficient adrenal cortex combined with diabetes) can complicate treatment. A patient with endocrine dysfunction should observe the appearance of another glandular defect in subsequent years. Gonad failure is ineffective with gonadotropin treatment, and chronic mucosal skin candidiasis is usually insensitive to treatment. Early in endocrine failure, the immunosuppressive amount of cyclosporine may be beneficial to some patients.