GI Zebras Flashcards
Zollinger Ellison syndrome, Peutz Jegher's syndrome, acute intermitten porphyria, MEN1, gastrinomas, carcinoid
pt presents with skin flushing and telangiectasis, diarrhea, and bronchospasm and deramatitis
features of carcinoid syndrome
GI manifestations of Carcinoid syndrome
diarrhea, abdominal cramping
niacin deficiency and dermatitis and diarrhea and dementia
seen with carcinoid syndrome
skin manifestations of carcinoid syndrome
flushing, telangiectasias and cyanosis
pulmonary manifestation of carcinoid syndrome
bronchospasm
cardiac manifestation of carcinoid syndrome
valvular lesions (right > left side)
diagnosis of carcinoid syndromes
elevated 24 hr urinary excretion of 5 HIAA CT/MRI of abdomen and pelvis to localize tumor octreoscan to detect metastasis echocardiogram (see if there is heart disease present)
treatment of carcinoid syndrome
octreotide for symptomatic patients and prior to surgery and anesthesia surgery for liver metastasis.
what is carcinoid tumor?
slow growing neuroendocrine tumors found most commonly in the distal small intestine nad proxmal colon and lung. Can secrete up to 40 products (serotonin, histamine, vasoactive intestinal peptide) Can spread to liver and prevent this hepatic inactivation which can cause carcinoid syndrome] can also see extraintestinal tumors can have direct access to the systemic circulation without immediate hepatic clearance of their products.
what is carcinoid syndrome?
syndrome of espidoic flushing and secretory diarrhea and cutaneous telangiectasis and bronchospasm and tricuspid regurgitation from carcinoid tumors.
what is systemic mastocytosis
increased mast cells and see skin involvement most commonly seen with pruritis and urticaria pigmentosa (yellow red raised papules and nodules in the upper or lower extremities).
What are VIPomas
secrete vasoactive intestinal peptide tp have large volume secretory watery diarrhea and elctrolytes disturbances (hypokalemia, hypochlorhydria) and see flushing in 20% of pts with VIPomas.
What is the carcinoid crisis?
life threatening complication fro ma tumor manipulation (surgery or biopsy or anesthesia) which causes the release of large amounts of active products.
how to prevent carcinoid crisis?
give somatostatin analogs or 5HIAA analogs to provide relief and prevent a carcinoid crisis.
What is pellagra?
diarrhea, dermatitis, and dementia (seen with niacin deficiency) and can see this with deficiency of tryptophan and niacin deficiency when you have wide metastasis of carcinoid tumor.
Drug induced liver injury treatment
if no encephalopathy or coagulopathy need to stop offending drug and watchful waiting.
Most common drugs that cause drug induced liver injuryare:
CNS agents like an antiepileptic or psychotropic drugs (amoxicillin-clavulante drug induced liver injury can occur following cessation of drug
mean onset of juandice from amoxicillin cessation is about
15 days in cases of drug induced liver injury but range is about 2-55 days.
4 D’s of niacin deficiency?
pellagra - see dermatitis, diarrhea, and dementia and this can lead to death.
Zollinger Ellison syndrome
see gastrinomas that secrete gastrin and cause peptic ulcers.
what medical condition is associated with Zollinger Ellison syndrome
MEN1 (20%) of cases
when do we see Zollinger Ellison syndrome
20-50 yrs old with dyspepsia, reflux symtpoms, abdominal pain, weight loss and frank GI bleeding
What is the screening test for Zollinger Ellison syndrome and what is seen on EGD
EGD findings: thickened gastric folds, multiple peptic ulcers, refractory uclers despite PPI and ulcers distal to duodenum in the jejunum. Screening test: check gastrin level. Gastrin level <110 pg/ml rules gastrinoma out
what level of gastrin is highly suggestive of Zollinger Ellison syndrome What to do after high gastrin?
gastrin level >1000 pg/ml need to check gastric pH with pH>4 ruling out gastrinoma pH<4 suggests gastrinoma and requires further testing with a EUS and somatostain receptor sintigraphy and CT or MRI for localization
what if gastrin level is 110-1000?
needs asecretin stimulation test. Negative secretin test rules out gastrinoma, positive test needs localization testing.
Gastrinoma in association with MEN1 responds to
PPI
How to treat sporadic gastrinomas or MEN-1 pts with uncontrolled symptoms on medical therapy?
surgery
Where does gastrinoma commonly occur in the GI tract?
70% in the duodenum and less commonly at hte head of hte pancreas.
Cancer screening recommendations for Peutz Jegher’s Syndrome?
Colonoscopy at 18 yrs, EGD and small bowel series at 8 yrs old. need early mammograms and testicular examination in boys under 12 yrs old
Evaluation of suspected gastrinoma
acute intermittent porphyria
caused by elevated prophobilinogen and alpha aminolevulinic acid in tissues due to a heme pathway enzyme deficiency (hepatic PBG deaminase).
Factors causing AIP are: starvation, stress, infection, ETOH intake, infection, drugs (sulfonamides and hormones) and low carb diet.
Peutz Jegher’s Syndrome or PJS
genetic inheritance
skin manifestations.
rare autosomal dominant disorder with multiple hamartomatous GI polyps and pigmented mucocutaneous papules and seen in both men and women and across races.
Skin lesions are present with 95% at birth and are flat gray to brown spots about 1-5 mm and are on lips, perioral area, buccal mucosa, hands and feet. These are different from freckles.
can have greater risk for small bowel cancer
greater risk for breast, gynecological cancers, pancreatic cancer and risk for GI bleeding and intussuception and small bowel obstruction.
GI complications with Peutz Jegher’s syndrome or PJS.
Can have lots of GI polyps everhwere in small intestine, colon, stomach, and rectum. Can see obstruction (intussusception or occlusion by polyp) around age 10-30 yrs. See abdominal pain and rectal bleeding.
There is also a risk for malignancy with the polyps. Aggressive surveillance is needed.
Colonoscopy at 18 yrs, EGD and small bowel series at 8 yrs old. need early mammograms and testicular examination in boys under 12 yrs old
Greater risk for breast, gynecological and pancreatic cancers.
someone is <40 yrs and unexplained liver dx, test for:
Wilson’s dx. Autosomal recessive metabolic disorder
serum ceruloplasmin measurement as screen. Will be low
confirmation test: 24 hr urine copper excrement - should be high.
acute intermittent porphyria presentation:
recurrent episodes of severe abdominal pain, seen with signs of constipation, signs of ileus (nausea, abdominal distention, decreased bowel sounds due to autonomic neuropathy
See bladder dysfunction resulting in urinary retention, incontinence, dysuria
see dark or reddish urine.
can have sensory neuropathy early on but motor neuropathy and painful flaccid paralysis is a late presentation.
acute intermittent porphyria labs
see reddish or dark urine
hyponatremia - due to SIADH and see increased risk for seizure
Tachycardia and hypertension due to catecholamine release during attack from pain are common
diagnosis of acute intermittent porphyria
elevated urinary porphobilinogen measurement confirms diagnosis. also will see elevated urine heptacrboxyl prophyrin level.
best measured in acute attack.
Treatment of acute intermittent porphyria
symptomatic therapy
glucose loading
IV hemin - reconstitutes regulartoy heme pool in the liver to lower PBG
Future attacks are prevented by avoiding starvation, stress, infection, ETOH intake, drugs (hormones and sulfonamides)
what increases gastrin levels?
PPI so if suspecting gastrinoma, should test before therapy
MEN1 is associated with
3 P’a
pituitary adenoma
parathyroid hyperplasia
pancreatic or gastrinoma
after diagnosing porphyria cutanea tarda what to also check?
rule out hemochromatosis, genetic testing, HIV, and hep C and hepatic tumors wiht U/S
Treatment: reduce sun exposure , eliminate risk factors, phlebotomy for iron overload and if needed administration of antimalarial agents.
