What is it about ?
APECED syndrome (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) is an inherited disease of the immune system in which the immune system attacks cells in the glands. The glands are organs that produce hormones (thyroid, pancreas, adrenals, ovaries, etc.). In APECED syndrome, several of these glands are affected separately or simultaneously. This can give rise to various clinical pictures, depending on the glands involved. These immune problems prevent the body from fighting superficial fungal infections of the skin or mucous membranes (candida).
What is its frequency?
This disease is very rare. There are said to be 400 cases worldwide. These problems can in theory occur in all population groups, but to date they are most often seen in people from Finland or Sardinia and in people of Judeo-Iranian descent.
How to recognize it?
APECED syndrome often manifests itself at a young age (in childhood or adolescence). The disease can present in a very variable way and does not progress in the same way. As a result, the diagnosis is often made late, and sometimes even missed.
The characteristic is the combination of different clinical pictures which are in fact unrelated to each other. For example, people with APECED syndrome have fungal infections of the mouth or skin and have at least one gland that is not or not functioning well. Possible symptoms are: calcium deficiency due to parathyroid problems, low blood pressure or hypoglycemia due to adrenal gland problems, hypothyroidism, fertility problems, skin problems such as discoloration of the skin (vitiligo), loss of hair, anemia, hepatitis, eye problems, red rash with fever and possibly joint pain, chronic diarrhea or severe constipation …
In addition to recurrent fungal infections, there is often a deformity of the nails, which are fragile and have small holes, and poor formation of tooth enamel (adult teeth).
How is the diagnosis made?
If APECED syndrome is suspected, your doctor will take a blood test to check for the presence of certain types of antibodies. Blood tests can also detect deficiencies in certain hormones, which is important for treatment and monitoring.
What can the doctor do?
The doctor will refer you to an endocrinologist (specialist in hormone-producing organs), but will continue to monitor you regularly with blood tests. There is no comprehensive treatment for all symptoms. That is why each new symptom and each new condition is treated separately.
Fungal infections of the mouth should be carefully monitored and treated. They can indeed cause the appearance of cancer in the long term. If an ulcer in the mouth does not heal within a week, the doctor may take a tissue sample (biopsy); it may be useful to contact a doctor specializing in mouth, jaw and face surgery (stomatologist).
Life expectancy is normally normal with good follow-up and appropriate treatment and provided that the patient and his family learn to manage this syndrome well.
Source