Type 1 Polyglandular Autoimmune Syndrome

Type 1 polyglandular autoimmune syndrome (PAS) is an autoimmune disorder that has the characters such as endocrine tissues, additional ectodermal disorders and chronic mucocutaneous candidiasis. This autoimmune syndrome affects many of the body’s organs by attacking the tissues and organs due to the immune system malfunctions.

The type 1 polyglandular syndrome is confirmed in a person, if he/she has at least one among the three following diagnostic criteria:

Chronic mucocutaneous candidiasis

Autoimmune adrenal insufficiency

Chronis hypoparathyroidism

In addition to these three basic diseases, the patients may also have to suffer other health issues like alopecia, hypogonadism, chronic hepatitis, erniciose anemia, chronic atrophic gastritis, malabsorption, IMDM, hypophysitis, hypothyroidism, keratoconjunctivitis, vitiligo and erniciose anemia.

Cause

PAS- type 1, which is characterized by an autosomal recessive inheritance, happens when mutation occurs in the AIRE gene that encodes the AIRE protein. The protein, AIRE, probably will act as a transcription factor.

Symptoms

Chronic mucocutaneous candidiasis: The common symptom of type 1 polyglandular autoimmune syndrome is chronic mucocutaneous candidiasis (CMS). Therefore, all the patients, especially children with CMC are advised to examine endocrine functions and immune system. 73 to 100 percent of patients with PAS type 1 are found to be suffered from CMC and it is usually mild in PAS 1 patients, while is chronic in some cases. It usually attacks skin, but commonly spread also to mouth, nails, vagina, intestine and esophagus.

Autoimmune Addison’s disease (AAD): It is found that 72-100 persons, who are suffering from PAS-1, are also victims to AAD. As, the chances for death due to no recognition or delayed diagnosis AAD is high, children, who are in suspicion of PAS-1, should keep regular follow-up.

Hypoparathyreosis: Hypoparathyreosis, which is the endocrine disorder among PAS-1 patients, is found in 76-93 percent of people with PAS-1.

Hypergonadotrophic hypogonadism: This disease is found in 17-50 percent of people, who suffer from type 1 polyglandular autoimmune syndromeand is up to 72 percent of women.

Alopecia: 29-40 percent of PAS-1 patients suffer from alopecia that may afflict on hair, eyelashes, eyebrows, genital pubes and armpit.

Ectodermal dystrophy: Ectodermal dystrophy, which afflicts on nails, tympanic membranes and enamel, is another symptom of PAS-1.

Diagnosis

An exact diagnosis of type 1 polyglandular autoimmune syndromeis the discovery of the AIRE protein, though it is not routinely available. Therefore, the clinical diagnosis, which is based on the above diagnosis criterion, is more acceptable. Children, who suffer from CMC or primary HP, are more susceptible to PAS-1.

Chances

PAS-1 with the incidence of 1:100,000 is a rare disease and it is more commonly seen in some special populations including Sardinians, Finns and Iranian Jews. Even though it usually starts at early childhood, you can expect the symptoms develop throughout the life. P

AS-1 affects both sexes equally.

Treatment

The type 1 Polyglandular autoimmune syndrome has a treatment method that is targeted at the affected organ. It is always better, if the disease is identified and started treatment for the respective auto immunity before any important morbidity may develop. The patient education about the disease, along with the replacement therapy, is also integral to the success of the treatment, as it helps the people to diagnose the disease at the early stage and take the adequate treatment.

Mucocutaneous candidiasis is treated with ketoconazole and fluconazole.

Hypoparathyroidism, which is usually gradual and permanent, needs adequate therapy of vitamin D and oral calcium.

IV calcium gluconate and magnesium may be essential to treat coexisting malabsorption.

Diet

The patients should keep the diet very strictly along with the treatment to overcome the disease. The patients with adrenal insufficiency are better to follow a high-salt diet. Try to keep a diabetic diet, if the patient suffers from coexisting diabetes.

If you find out any of the symptoms of Type 1 autoimmune polyglandular syndrome, which is also known in many other names like APS 1, APS type 1, APECED, AIRE deficiency, PGA 1 etc., don’t hesitate to consult your physicians as soon as possible.