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What is APECED?

APECED, or Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, is a rare genetic disorder affecting the immune system. It leads to hormonal imbalances, fungal infections, and dental enamel defects. Understanding APECED is crucial for early diagnosis and management. Intrigued by how this condition impacts lives? Discover the personal stories and medical insights that bring APECED's challenges to light. What could this mean for future treatments?
Bryan Cowing
Bryan Cowing

APECED stands for autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. This disease prevents the immune system in the human body from fighting off infections. APECED is a genetically inherited disease that affects Finns, Iranian Jews, and Sardinians more than any other race. APECED can be identified by its many specific symptoms involving the glands and skin.

The first and most prevalent symptom of APECED is hypoparathyroidism. This symptom causes a decreased level of calcium in the blood and results in tingling of the fingertips, lips and toes. Other signs of hypoparathyroidism include dry skin, hair and nails. While hypoparathyroidism can be caused by a number of different health problems, it is one of the main symptoms used to diagnose the presence of APECED.

The body has two adrenal glands that when properly functioning release hormones that help regulate metabolism, physical development and stress.
The body has two adrenal glands that when properly functioning release hormones that help regulate metabolism, physical development and stress.

Another symptom of APECED is frequent yeast infections. While this type of infection is most commonly associated with women, men with APECED are affected by it, as well. Yeast infections can occur in the mouth and groin area as well as the vagina. Many people experience yeast infections from time to time, but recurring yeast infections are often a symptom of an autoimmune disorder such as APECED.

The most prevalent symptom of APECED is hypoparathyroidism, which may cause nausea and vomiting.
The most prevalent symptom of APECED is hypoparathyroidism, which may cause nausea and vomiting.

Adrenal insufficiency is the third most common symptom of APECED. The adrenal glands are above the kidneys. They are responsible for producing steroids that regulate the organs and help the body process sodium and potassium. A person suffering with adrenal insufficiency may be plagued by frequent thirst, weakness and muscle fatigue.

There are specific symptoms that indicate APECED in children. The most obvious symptom in children includes problems with many glands in the body. The adrenal and sex glands are affected by noticeable symptoms that cause physical problems such as underdeveloped testes and baldness. Infants and children with APECED can also develop frequent infections and inflammation of the cornea and whites of the eye. Children with APECED will also have underdeveloped tooth enamel that can lead to pain and frequent cavities.

APECED is a genetically inherited disorder, and there is no cure available as of 2010. The current treatment for APECED involves treating the symptoms of the disease. Doctors most often work with the patients to treat infections and replace the hormones that are inhibited by under-functioning glands. A diagnosis of APECED is not a death sentence, but treating the symptoms of the disorder is vital for maintaining quality of life. For this reason, most people diagnosed with APECED stay in close contact with a family doctor or specialist.

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    • The body has two adrenal glands that when properly functioning release hormones that help regulate metabolism, physical development and stress.
      By: Sebastian Kaulitzki
      The body has two adrenal glands that when properly functioning release hormones that help regulate metabolism, physical development and stress.
    • The most prevalent symptom of APECED is hypoparathyroidism, which may cause nausea and vomiting.
      By: Piotr Marcinski
      The most prevalent symptom of APECED is hypoparathyroidism, which may cause nausea and vomiting.