Heme/onc zebras Flashcards
Clinical features of HHT or Hereditary hemorrhagic telangiectasia or Osler Weber Rendu syndrome
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
Genetics of hereditary hemorrhagic telangiectasias
rare autosomal dominant disorder
Also increased risk for VTE
hypersensitivity or cutaneous vasculitis is seen with
palpable purpura hematuria or bowel angina and GI bleeding
-starts 7-10 days after exposure to a medication.
Peutz Jegher’s syndrome has
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
tuberous sclerosis has
ashleaf spots
angiofibromas on face and shagreen patches on trunk (brown fibrous plaque on face)
Can have seizures but no epitaxis
von Willebrand dx
doesn’t have seizures or mucocutaneous telangiectasia
SVC syndrome is caused by:
lung, aggressive lymphoma, thymoma and primary mediastinal germ cell tumors
Lead toxicity as seen on peripheral smear
inhibits heme synthesis and causes RNA breakdown causing denatured RNA in RBCS on peripheral smear with basophilic stippling
tuberous sclerosis genetics
autosomal dominant
tuberous sclerosis features
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
management of tuberous sclerosis
seizures and skin findings.
von hippel lindau dx genetics
autosomal dominant dx
von hippel lindau dx characteristics
see hemangioblastomas of CNS, retinal angiomas, pheochromocytomas and pancreatic lesions and renal cysts and RCC.
Peutz Jegher’s syndrome is seen with
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
people who have Peutz Jegher’s syndrome are at increased risk for:
GI and extra gastrointestinal cancers
seen in breast, gynecological system and pancreas
what is seen on the lips of Peutz Jegher’s syndrome?
hamartomatous polyp
Difference between Hereditary Hemorrhagic telangiectasias and Peutz Jegher’s
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.
retroperitoneal fibrosis is
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
medications associated with retroperitoneal fibrosis
most are idiopathic
some drugs are BB, bromocriptine, ergots, malignancy (lymphoma) infections (TB) radiation therapy
dull, non colicky flank pain and occurs in the girdle distribution
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.
retroperitoneal fibrosis fibrosis is with
Abdominal CT scan is preferred along with biopsy to diagnose
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
early retroperitoneal fibrosis.
