Polyglandular disorder and Carcinoid syndrome

Question 1

APS1

Answer 1

What are the main symptoms and presentation of APS1?

APS1: Addison’s, HypoParathyroidism, Pernicious anemia (parietal cells), HypoGonadism. usually presents as part of

APS1 = APECED, autoimmune polyendocrinopathy, candidiasis, and ecodermal dystrophy.

Chronic mucocutaneous candidiasis occurs first, at a young age. Before 4 years. By years 4-5, hypoparathyroidism emerges, followed by Addisons (adrenal insufficiency)

CMC: - Oral candidiasis – Candidal esophagitis esophageal stricture or squamous cell carcinoma – Perianal candidal eczema – intestinal mucosal candidiasis – Infection of skin of the hands ,face and nails – Candidal vulvovaginitis (after puberty)

Question 2

APS 1, 2, 3

Answer 2

Both:

• T1DM.
• Hypogonadotropic hypogonadism
• (hepatitis, keratoconjunctivitis, periodic rashes with fever, chronic diarrhea, celiac disease, severe obstipation, alopecia, or vitiligo

APS – I.

• Early beginning (childhood)
• CMC
• Hypoparathyroidism
• Addisons
• pituitary defects
• autoimmune gastritis, pernicious anemia
• Mutation of AIRE gene
• Immune deficiency (CMC)

APS – II.

• Later beginning (adults)
• Addisons
• T1DM
• Autoimmune Thyroiditis
• vitiligo/alopecia
• atrophic gastritis/pernicious anemia
• myasthenia gravis
• hypophysitis
• celiac disease
• No mutation of AIRE
• HLA Mutation
• No Immundeficiency
• No MCM

APS 3

• Autoimmune thyroid disease plus other autoimmune disease
• Sjogrens
• SLE
• Myasthenia gravis
• Celiac disease
• Often in a mild, subclinical form.

Turner syndome has autoimmune thyroiditis in 30% and is part of the APS 3 DDx.

Question 3

Carcinoid syndrome symptoms

Answer 3

group of symptoms related to carcinoid tumors, occurs in about 5%. Caused by Histamine, Serotonin, Bradykinin excreted by the tumor.

Causes bouts of:

• Flushing
• Diarrhea
• Nausea and Vomitting
• Abdominal pain
• Bronchoconstriction and dyspnea
• Restrictive cardiomhyopathy,
• Triscuspid insufficiency, and Pulmonary Stenosis TIPS, Right sided hypertrophy and
• Pellagra-like skin leasions due to altered vitamin metabolism or low Vitamin B3 due to tumor consumption.
  
  • allopecia, hair loss
  • red skin lesions on hands and body

Question 4

Carcinoid syndrome diagnosis

Answer 4

24 hour urine collection and measure levels of 5-HIAA, serotonin degradation produce. This is confirms carcinoid synd.

somatostain-receptor scintography, with radiolabeled octreotide

MRI, CT

Endoscopy

Echocardiogram for right sided valvular lesions

Question 5

Carcinoid syndrome treatment and prognosis

Answer 5

Carcinoids are slow growing tumors that take a long time to metastasize.

Intraluminal carcinoids do not cause carcinoid usually until they are very large, as they are secreting things into the lumen and it gets digested by first pass liver metab, so they ahve a worse prog.

5 year survival is ~90%

Main treatment is surgical resection and chemo if it has lymph spread or metastasis.

Prophylactic octeotride aka somatostatin inhibits their histamine/serotonin/bradykinin release, and is requred before surgical resection to prevent massive release and carcinoid crisis/distributive shock.

Loperamide to treat the diarrhea

Question 6

Carcinoid tumor locations by frequency

Answer 6

40% in small intestine

Next the Stomach or Colon

Then trachea/bronchioles

Lastly the lung parenchyma.