(APS)

Acronym for Autoimmune PolyEndocrinopathy Candidasis Ectodermal Dystrophy

APECED type 1 : [MIM 240 300]

(polyglandular syndrome type 1)

Prevalence < 1.106 but the prevalence is higher in some groups in Finland, Sardinia and in the Jewish population in Iran. Autosomal recessive transmission of a mutation of the AIRE gene (21q22.3) which codes for a regulating protein of autoimmunity in the thymus. A deficiency in this protein results in the presence, in the blood, of T regulator lymphocytes (Treg) capable of interacting with specific antigens of the patient.

Clinical signs are highly variable:

▪  autoimmune involvement:

-        hypoparathyroidism, before the age of 10 years, 80 % of all cases

-        adrenal insufficiency, 78 % of cases

-        autoimmune hepatitis

-        celiac disease

-        atrophic gastritis with Biermer's anemia

▪ ectodermal involvement:

-        areas of skin depigmentation (vitiligo)

-        dystrophy of the nails

-        anomalies of dental enamel

-        areas of alopecia

-        involvement of the cornea

▪  mucocutaneous candidosis: recurring thrush in the early months of life, infection of the mucosae and the nails.

Increased risk of oropharyngeal  and gastric cancers ?

Treatment: symptomatic for the hormonal deficiencies, fluconazole for the candidosis .

APECED type 2 or Schmidt syndrome [269 200 MIM]

Estimated prevalence of about 14-20 cases /106 with a significant female preponderance (4/1). Autoimmune disease of unknown origin that usually starts between 30 and 40 years of age. Endocrine glands are mainly involved. The clinical manifestations are highly variable:

-        adrenal failure

-        hypothyroiditis followed by hypothyroidism or hyperthyroidism

Sometimes: diabetes mellitus, hypoparathyroidism, hypogonadism, pernicious anemia by deficiency in vitamin B12, celiac disease, vitiligo.

Anesthetic implications: 

substitutive opotherapy for the hormonal deficiencies

References : 

-        Puzenat E, Pepin L, Bertrand A-M, Pelletier F et al. 
Polyendocrinopathie auto-immune de type 1 ou syndrome APECED.
Ann Dermatol Vénéréol 2010 ; 137 :794-8.

Updated: March 2018