Autoimmune polyendocrine syndromes (APS)

Question 1

What is the alternative name for APS-1?

Answer 1

APECED

APS-1 stands for Autoimmune Polyglandular Syndrome type 1

Question 2

What is the genetic basis for APS-1?

Answer 2

Mutations in the AIRE gene

Question 3

What is the inheritance pattern of APS-1?

Answer 3

Autosomal recessive

Question 4

What is the main age of onset for APS-1?

Answer 4

Childhood to early adolescence

Question 5

List three core endocrine components affected in APS-1

Answer 5

• Hypoparathyroidism
• Adrenal insufficiency (Addison’s disease)
• Chronic mucocutaneous candidiasis

Question 6

What are other possible manifestations of APS-1?

Answer 6

• Hypogonadism
• Vitiligo
• Alopecia
• Pernicious anemia
• Hepatitis
• Keratoconjunctivitis
• Malabsorption

Question 7

What is the primary diagnosis method for APS-1?

Answer 7

Clinical presentation and genetic testing for AIRE mutations

Question 8

How frequent is APS-1?

Answer 8

Rare

Question 9

What is the management approach for APS-1?

Answer 9

Hormone replacement therapy and management of infections

Question 10

What is the prognosis for APS-1?

Answer 10

Variable, depending on disease severity and treatment compliance

Question 11

What is the alternative name for APS-2?

Answer 11

Schmidt Syndrome

Question 12

What is the genetic basis for APS-2?

Answer 12

Polygenic, involving multiple genetic factors

Question 13

What is the inheritance pattern for APS-2?

Answer 13

Not clearly defined, often seen in families

Question 14

What is the main age of onset for APS-2?

Answer 14

Adulthood

Question 15

List three core endocrine components affected in APS-2

Answer 15

• Adrenal insufficiency (Addison’s disease)
• Autoimmune thyroid disease (Hashimoto’s thyroiditis or Graves’ disease)
• Type 1 Diabetes Mellitus

Question 16

What are other possible manifestations of APS-2?

Answer 16

• Hypogonadism
• Celiac disease
• Vitiligo
• Alopecia
• Pernicious anemia

Question 17

What is the primary diagnosis method for APS-2?

Answer 17

Clinical presentation and detection of specific autoantibodies

Question 18

How frequent is APS-2?

Answer 18

More common than APS-1 but still relatively rare

Question 19

What is the management approach for APS-2?

Answer 19

Hormone replacement therapy for affected glands

Question 20

What is the prognosis for APS-2?

Answer 20

Variable, better with early diagnosis and treatment

Question 21

What is the genetic basis for APS-3?

Answer 21

Polygenic, involving multiple genetic factors

Question 22

What is the inheritance pattern for APS-3?

Answer 22

Not clearly defined, often seen in families

Question 23

What is the main age of onset for APS-3?

Answer 23

Adulthood

Question 24

List three core endocrine components affected in APS-3

Answer 24

• Autoimmune thyroid disease (Hashimoto’s thyroiditis or Graves’ disease)
• Celiac disease
• Vitiligo

Question 25

What are other possible manifestations of APS-3?

Answer 25

• Alopecia
• Pernicious anemia
• Type 1 Diabetes Mellitus

Question 26

What is the primary diagnosis method for APS-3?

Answer 26

Clinical presentation and detection of specific autoantibodies

Question 27

How frequent is APS-3?

Answer 27

Less common and less well-defined compared to APS-2

Question 28

What is the management approach for APS-3?

Answer 28

Hormone replacement therapy for affected glands

Question 29

What is the prognosis for APS-3?

Answer 29

Variable, better with early diagnosis and treatment

Question 30

PIC

Answer 30