APECED?

APECED stands for Autoimmune Polyendocrinopathy-Candidiasis-Ectodermic dystrophy. There are many other names for this syndrome including:

• Autoimmune Polyendocrinopathy or Autoimmune Polyendocrine syndrome (APS1)
• Autoimmune Polyglandular Disease Type I
• Autoimmune-Polyendocrinopathy-Candidias
• Polyglandular Autoimmune Syndrome (Type 1, 2 and 3)

APECED syndrome is classified as a very rare genetic syndrome by the National Organisation for Rare Disorders (www.rarediseases.org). APECED involves the autoimmune system and is a combination of several distinct disorders. It is defined as the subnormal functioning of several endocrine glands at the same time (concurrently).

There are two types of APECED, type 1 and 2. Type 2 typically occurs in adults. Type one affects children and adults younger than 35. This is the type that James has and therefore I will be concentrating on this type.

It is characterized by below normal secretion of the parathyroid gland (hypoparathyroidism, occurs in 79% of cases) and the failure of the adrenal cortex to secrete normal volumes of hormones (72% of cases). A persistant fungal infection (mucocutaneous candidiasisis) is common and chronic.

Other diseases that are associated with APECED are:

• hypothyroidism
• hypogonadism and infertility
• diabetes mellitus (type 1)
• vitiligo (depigmentation of the skin)
• alopecia (baldness)
• malabsorption
• pernicious anemia
• chronic active (autoimmune) hepatitis

APECED inherits in an autosomal recessive fashion and is due to a defect in AIRE (“autoimmune regulator”), a gene located on the 21st chromosome.