Haem onc Flashcards
(22 cards)
anemia with high reticylocyte count and previous hospitalisations for abdominal pain and hematuria -> points to sickle cell anemia. risk of pneumococcal sepsis so vaccinations
+ penicillin prophylaxis important!!
elevated MCHC!!!!
prolonged jaundice and hemolytic anemia in an infant. most likely diagnosis?
test to diagnose???
Hereditary spherocytosis!!
causes elevated MCHC!!
Eosin-5-malamide binding!!!! or osmotic fragility
NOT CD protein testing as that is used in PNH
8 yo pale mucous membranes, irritability and listlessness
low serum iron, high TIBC, low transferrin saturation
increased RDW!!!
microcytosis, anisocytosis and hypochromia
most likely diagnosis/
iron deficiency anemia!!
NOT thalessemia as iron is normal or high due to red blood cell turnover!!!!!!
TIBC/transferrin is normal or low and transferrin saturation is normal or high
NOT anemia of chronic disease because iron, TIBC and transferrin saturation will all be low. serum ferritin increased due to inflammation
all cause decreased mcv
splenic sequestration can cause shock!! or hypotension. in addition to anemia, thrombocytopenia
sickle cell patient coming in with macroyctic anemia and takes hydroxyurea and folic acid. most likley cause?
medication adverse effect -hydroxyurea!!!
note methotrexate can also cause macrocytosis as well as lipid abnormalities (liver disease, hypothyroidism)
if patient wasnt taking folic acid, it could have been folate deficiency!!! due to chronic hemolysis
2 yo. right upper eyelid droping and right eye constricted + facial flushing on left side of face only when crying.
MRI reveals cervical paravertebral mass.
most likely diagnosis?
Neuroblastoma!!
tumour arrises from neural crest cells = part of sympathetic ganglia and adrenal medulla
thus most commonly tumour in adrenal medulla
but !! tumour involvement of cervical paravertebral sympathetic chain in this case!!!! can cause horners syndrome
first step in diagnosis = urine and serum catecholamines!!!! -> then tissue biopsy
signs:
- abdominal mass!
- periorbital echymosiss due to mets!!
- spinal cord compression due to epidural invasion
- opsoclonus myoclonus syndrome - jerk eye and limbs!!
NOT lyme disease as although facial droop, pupil constricition and flushing not expected
episodes of hemarthrosis in past. now knee pain for 6 months. cant fully extend it.
pathology?
most likely diagnosis?
hemosiderrin deposition and fibrosis
hemophilic arthropathy!! -> factor replacement helps to prevent
ITP. had tried IVIG and pred. but still has chronically low platelets and mucosal bleeding.
next step in management
splenectomy!!!
NOT anti-D as it is only used first line in patients that are Rh positive.
NOT platelet transfusion as reserved for massive bleeding in ITP
physiologic anemia of infancy occurs due to reduced EPO production. self resolving
recurrent infections (otitis media, pneumonia, herpes), plus eczema, plus thrombpcytopenia (Low but also small platelets) in an infant
low platelet count can cause all types of bleeding eg ICH but in this case was GI bleed
mechanism behind condition - gene mutation affecting what?
cytoskeleton regulation!!!!
Wiskott Aldrich syndrome!!!!
question described ALL and asked a deficiency in what would be seen = platelet production!!!
direct coombs test is negative in HUS! because RBCs are mechanicall destroyed and not destroyed via an autoimmune process.
rather in HUS, hemolytic anemia, renal injury and what is seen?
decreased platelet count!!!!!
thrombocytopenia!!!!
patient with severely restricted diet has leg pain, petiechiae on legs and gingivitis
next step in diagnosis?
ascorbic acid level!!! - low level confirms diagnosis of scurvy!!!
musculoskeletal hemorrhage can cause leg pain and limp
most common complication of sickle cell TRAIT?
painless hematuria!
hyposthenuria may also occur
platelet dysfunction is common in CKD -> easy brusing, mucosal bleeding -> but the COUNT will be normal
sickle cell. acute drop in hemoglobin. low reticulocyte count. SOB and fatigue. most likely diagnosis?
Aplastic crisis!!!! due to parvorivus B19
contrast to aplastic anemia which causes pancytopenia
NOT acute chest syndrome as causes chest pain fever and infiltrates on CXR
acute splenic sequestation crisis also includes hypovolemic shock. after volume resus, next step in management?
packed red blood cell transfusion!!!
to restore circulation
NOT spleenectomy!
bone pain, hepatospleenomegaly, key signs in ALL
patient with spleenectomy. blood film shows round blue inclusions in rbcs. basically howell jolly bodies
what does howell jolly bodies indicate?
persistence of red blood cell precursor nuclei!!
macrocytic anemia + craniofacial abnormalities eg flat nasal bridge cleft palate + triphalangeal thumbs
most likely diagnosis?
Diamond blackfand anemia
NOT fanconi anemia which cause PANCYTOPENIA!! diamond blackfand only affects RBCS!!
fatigue/anemia and brown macules on lips and buccal mucosa
next step in investigation?
upper and lower GI endoscopy!!! screen for cancer
putz jeghers syndrome!!!
macules can also occur on palms and soles
endoscopy as GI polyps are CLASSIC -> ida due to bleeding, abdominal pain if obstructed, rectal prolapse risk
5 YO with anemia and indirect hyperbimirubinemia. (This suggests a pathological hemolytic process - either immmune mediated hemolysis, erythrocyte membrane defects or erythrocyte enzyme deficiencies.) negative Coombs test and Mediterranean background. Most likely cause is?
- enzyme deficiency = G6PD
- Not physiological jaundice as a maximum beak in bilirubin is typically 15 but patient had 20.
