Polyglandular Autoimmune Endocrine Disorders

What is polyglandular autoimmune syndrome ?

Failure of multiple endocrine organs is not uncommon and is called by several names, including:

• polyglandular autoimmune syndrome
• autoimmune endocrine failure syndrome
• autoimmune polyendocrine syndrome
• immunoendocrinopathy syndrome

For reasons of brevity the abbreviation PGA will be used to denote the condition in this document.

Autoimmune endocrine failure syndromes include endocrine disorders such as diabetes and other non-endocrine problems.  Any of them can show up, in any order, in any member of an affected family.

What are the features of this condition?

This syndrome might include any of the following disorders:

• Type 1 Diabetes
• ovarian failure (early menopause)
• Addison's disease (adrenal gland failure)
• Pernicious Anaemia (associated with Vitamin B12 deficiency)
• Hypothyroidism (underactive thyroid gland), hyperthyroidism (overactive thyroid gland function), and thyroiditis (inflammation of the thyroid gland).
• Pituitary gland failure (Hypopitiutarism)
• Parathyroid gland failure
• Candidia infections of the skin and mucus membranes
• Vitiligo (white depigmented patches on the skin)
• Alopecia Totalis (loss of body hair)
  

What are the different types of polyglandular autoimmune syndrome ?

Two varieties of the syndrome have been described : Type 1 and type 2

Features common to both types:

• Type 1 Diabetes

• Vitiligo

• premature menopause

• Addison's disease

• Pernicious Anemia

• Hypothyroidism, hyperthyroidism,and thyroiditis

• Parathyroid gland failure

• Alopecia

Certain other conditions are characteristic of either type 1 or type 2 PGA

Note: All those with PGA type 2 have adrenal insufficiency and 50% have type 1 diabetes. Type 1 is usually apparent in childhood whereas type 2 has a peak onset in middle age. Decades may arise between the onset of one disease and the onset of the second in the same patient.

If someone has several of these conditions, or if one member of a family has one of these conditions, and another family member has another, it's very likely that they may have antibodies against other endocrine tissues. If a biopsy of affected tissue were obtained, it will show lymphocytic infiltration (ie. a collection of cells which fight inflammation). Regrettably this infiltration is involved in the occurrence of disease in the endocrine glands.

How does one get PGA ?

PGA is an inherited disorder. The two types have differing ways of inheritance. Type 1 is inherited in an autosomal recessive manner whereas type 2 is linked to the inheritance of HLA antigens on chromosome 6. A detailed discussion of these methods of inheritance is beyond the scope of this document.

What should I do?

If you, or a family member, have several of these conditions, there's no specific therapy that's different than if you had only one of them. There are, however, several points to be made:

• You and your physician should watch for the possibility of developing another of the disorders. This will require specialist follow up with regular endocrine tests.
• You and your family should be aware of the possibility of developing any of the disorders in any family member.
• Antibody levels could be measured for several of the disorders: thyroid antibodies are the most commonly available.
  

I have this condition should my family be screened ?

Yes. Endocrine tests and follow up may be necessary.

What is the risk of my children having this condition ?

The risk is not fully known as yet but obviously type 1 will be apparent at an early age. A specialist paediatric endocrinologist will advise.

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Ó NHS Tayside; 2006; version 1.0

Disclaimer; no liability whatsoever is accepted for information given and all such information, especially with regard to drug usage (UK version provided), must be checked with a person’s health provider.