Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Evidence: Antibody
Names
Autoimmune polyendocrine syndrome Type 1
Autoimmune polyglandular syndrome Type 1
Whitaker syndrome
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
APECED
APS-1
Description
APECED is a rare autoimmune condition that is caused by a genetic variant that prevents the destruction of antibodies in the thymus gland. As a result, those antibodies attack healthy tissue in a number of glands, leading to the symptoms. There are three components of APECED: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency.
Patient Groups
Bloggers
None
Prevalence
Rare, affects 1 in every 2-3 million newborns.
Typical Age of onset
The disease is genetic, so it is present at birth. Symptoms usually begin to appear in early childhood and continue to manifest in early adolescence.
Symptoms
Mucocutaneous candidiasis: infections of the skin, nails, oral, anal, and genitals, particularly mucus membranes. This symptom tends to manifest at the age of 1 to 3 years old.
Hypoparathyroidism: numbness or tingling surrounding the mouth area and fingertips, muscle cramps, and seizures. Around 1/3 of those diagnosed with APECED present this symptom at the age of 5 and is most prevalent in females.
Adrenal insufficiency: fatigue, abdominal pain, dizziness, weight loss, and hyperpigmentation. This symptom tends to manifest at ages 5-15.
Abnormalities (ectodermal dystrophy) of the nails, dental enamel, hair loss (alopecia), corneas (keratopathy), and skin (vitiligo–areas of depigmentation of the skin)
