2. WHAT ISAUTOIMMUNE POLYGLANDULAR
SYNDROMES
• a heterogeneous group of rare diseases characterized by autoimmune
activity against more than one endocrine organ, although non-
endocrine organs can be affected.
3. Classifications
• Autoimmune polyendocrine syndrome type 1,-an autosomal recessive
syndrome due to mutation of the AIRE gene resulting in
hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo,
candidiasis and others.
• Autoimmune polyendocrine syndrome type 2,- an autosomal dominant
syndrome due to multifactorial gene involvement resulting in adrenal
insufficiency plus hypothyroidism and/or type 1 diabetes.
• Immunodysregulation polyendocrinopathy enteropathy X-linked
syndrome (IPEX syndrome) -is X-linked recessive due to mutation of the
FOXP3 gene on the X chromosome. Most patients develop diabetes and
diarrhea and many die due to autoimmune activity against many organs.
Boys are affected, while girls are carriers and might experience mild disease
4.
5. ETIOLOGY
• Each "type" of this condition has a different genetic cause. IPEX
syndrome is inherited in males by an X-linked recessive process. The
FOXP3 gene, whose cytogenetic location is Xp11.23, is involved in
the mechanism of the IPEX condition
7. Diagnosis
Diagnosis for type 1 of this condition for example, sees that the following
methods/tests are available
• Endoscopic
• CT scan
• Histologic test
Differential diagnosis
For this condition, differential diagnosis sees that the following should be
considered:
• CD25 deficiency
• STAT5B deficiency
• Severe combined immunodeficiency
• X linked thrombocytopenia
8. TREATMENT
• Immunosuppressive therapy may be used in type I of this condition.
• Ketoconazole can also be used for type I under certain conditions.
• The component diseases are managed as usual; the challenge is to
detect the possibility of any of the syndromes and to anticipate other
manifestations. For example, in a person with known type 2
autoimmune polyendocrine syndrome but no features of Addison's
disease, regular screening for antibodies against 21-hydroxylase may
prompt early intervention and hydrocortisone replacement to prevent
characteristic crises
