Polyglandular disorders. Carcinoid syndrome Flashcards
Polyglandular autoimmune disorder type I: General info
Autoantibodies against more than one endocrine gland. Non-endocrine organs can also be affected.
PGA-I is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) or as Whitaker syndrome. It is associated with candidiasis, hypoparathyroidism, and adrenal failure.
PGA-I diagnosis
The presence of all three components of the disease (candidiasis, hypoparathyroidism, and adrenal failure) is not required for the diagnosis. At least two components must be present. Additional manifestations, including Type 1 DM, pernicious anemia and malabsorption may be present as well
Manifestations of PGA-I
First manifestations usually occur in childhood, the complete evolution of the 3 main diseases take place within the first 20 years of life. Accompanying diseases continue to appear at least until the 5th decade of life.
Candidiasis occurs in those younger than 5, hypoparathyroidism occurs in those which are younger than 10, Addison’s in those which are younger than 15.
PGA-II General information
The most common of the immunoendocrinopathy syndromes. Characterized by the inevitable occurrence of autoimmune Addison’s disease in combination with Thyroid autoimmune disease and Type 1 DM.
Also commonly observed is primary hypogonadism, myasthenia gravis, and Celiac disease.
Combinations of symptoms associated with PGA-II
Most common is Addison’s disease and Hashimoto Thyroiditis. The least common combination is Addison’s, Graves disease and type I DM. The complete triglandular syndrome is often called Carpenter syndrome.
PGA-II Pathophysiology and etiology
Occurs primarily in adulthood, usually around the third and fourth decade of life. Men have shown an increased prevalence of PGA-II. It is associated with HLA-DR3 and/or HLA-DR4 haplotypes. Pattern of inheritance is autosomal dominant with variable expressivity.
Carcinoid syndrome General info
Symptoms occurring secondary to a carcinoid tumor. A carcinoid tumor is a type neuroendocrine tumor which can metastasize to the portal vein so that the concentration of serotonin increases when entering the liver.
Diagnosis of Carcinoid
Symptoms of Carcinoid syndrome occurs when the concentrations of i.e. serotonin reaches such high levels that it overrides the ability of the liver to break it down.
Symptoms include: flushing, diarrhea, heart failure, and bronchial constriction. Diagnosis through 24h urine level.
Treatment Carcinoid syndrome
Octreotide - a somatostatin analogue inhibiting serotonin secretion
