Heme/onc zebras

Question 1

Clinical features of HHT or Hereditary hemorrhagic telangiectasia or Osler Weber Rendu syndrome

Answer 1

see mucocutaneous telengiectasis and AVMs everywhere so you see: frequent epistaxis,
Fe anemia and GI bleeding
PVM: cyanosis, dyspnea, paradoxical embolism and cerebral abscess. headaches
epilepsy, ischemic and hemorrhagic stroke
and hepatic AVMS which can cause liver failure with high output heart failure, portal hypertension, biliary disease, or be asymptomatic

Question 2

Genetics of hereditary hemorrhagic telangiectasias

Answer 2

rare autosomal dominant disorder

Also increased risk for VTE

Question 3

hypersensitivity or cutaneous vasculitis is seen with

Answer 3

palpable purpura hematuria or bowel angina and GI bleeding

-starts 7-10 days after exposure to a medication.

Question 4

Peutz Jegher’s syndrome has

Answer 4

1-5 mm flat blue gray to brown spots that resemble freckles and see this on lips, perioral region, hands or buccal mucosa and feet

Question 5

tuberous sclerosis has

Answer 5

ashleaf spots
angiofibromas on face and shagreen patches on trunk (brown fibrous plaque on face)

Can have seizures but no epitaxis

Question 6

von Willebrand dx

Answer 6

doesn’t have seizures or mucocutaneous telangiectasia

Question 7

SVC syndrome is caused by:

Answer 7

lung, aggressive lymphoma, thymoma and primary mediastinal germ cell tumors

Question 8

Lead toxicity as seen on peripheral smear

Answer 8

inhibits heme synthesis and causes RNA breakdown causing denatured RNA in RBCS on peripheral smear with basophilic stippling

Question 9

tuberous sclerosis genetics

Answer 9

autosomal dominant

Question 10

tuberous sclerosis features

Answer 10

see hamartomatous tumors in many organs.
see cystic lung disease
see ash leaf spots and brown fibrous plaque on forehead and angiofibromas

also see pulmonary LAM and retinal hamartomas

Question 11

management of tuberous sclerosis

Answer 11

seizures and skin findings.

Question 12

von hippel lindau dx genetics

Answer 12

autosomal dominant dx

Question 13

von hippel lindau dx characteristics

Answer 13

see hemangioblastomas of CNS, retinal angiomas, pheochromocytomas and pancreatic lesions and renal cysts and RCC.

Question 14

Peutz Jegher’s syndrome is seen with

Answer 14

mucocutaneous pigmentation, family history of early cancers and intussusception of jejunum

can see larger polyps in GI system that can bleed or infarct or ulcerate which cause the intestinal obstruction or intussusception

diagnosed before age 10 yrs

Question 15

people who have Peutz Jegher’s syndrome are at increased risk for:

Answer 15

GI and extra gastrointestinal cancers

seen in breast, gynecological system and pancreas

Question 16

what is seen on the lips of Peutz Jegher’s syndrome?

Answer 16

hamartomatous polyp

Question 17

Difference between Hereditary Hemorrhagic telangiectasias and Peutz Jegher’s

Answer 17

both will have spots on lips

HHT- will have mucocutaneous telangiectasias GI bleeding and AVM in lung, brain, and liver. Brain AVM can cause headaches, seizures, hemorrhage and stroke

Peutz Jegher’s see spots on lips, hands, buccal mucosa and feet. No stroke or seizures or headaches.

Question 18

retroperitoneal fibrosis is

Answer 18

idiopathic but chronic inflammation with fibroblast proliferation leading to chronic periaortitis and involvement of surrounding structures

rare disorder

causing mid to distal ureteral obstruction without usual uretic dilation seen with obstructive uropathy

Question 19

medications associated with retroperitoneal fibrosis

Answer 19

most are idiopathic

some drugs are BB, bromocriptine, ergots, malignancy (lymphoma) infections (TB) radiation therapy

Question 20

dull, non colicky flank pain and occurs in the girdle distribution

Answer 20

late retroperitoneal fibrosis presentation:

Also see progressive ureteral obstruction (mid to distal)

see bilateral clubbing and mild to moderate dilation of the calices without dilation of the mid or distal ureters.

Question 21

retroperitoneal fibrosis fibrosis is with

Answer 21

Abdominal CT scan is preferred along with biopsy to diagnose

Question 22

pain in low back, flank, abdomen pain that is dull
weight loss, malaise anorexia

claudication due to arterial compression
gross hematuria
possible testicular pain
IVC obstruction leading to edema or DVT

Answer 22

early retroperitoneal fibrosis.