Hematology q-bank Flashcards
Kasabach-Merritt clinical and lab features
clinical: giant hemangioma and localized intravascular coagulation
laboratory: thrombocytopenia, consumption coagulopathy (low fibrinogen), microangiopathic hemolytic anemia (schistocytes, RBC fragments)
Kasabach-Merritt treatment options (acute & chronic)
acute: platelets, pRBC, FFP, aminocaproic acid
surgical excision, steroids, embolization, radiation therapy, vincristine, cyclophosphamide…
Mortality significant!
Von Willebrand factor
- types and difference & *why it matters re: treatment
type 1: quantitatively reduced –> only responder to DDAVP
type 2: qualitatively abnormal
(2a- abnormal protein, 2b- hyperactive protein, binds platelets at lower concentrations and thus can worsen bleeding with DDAVP)
type 3: absent VWF –> 2&3 bleeds treat with recombo FVIII/VWF or cryo
Where does Wilms tumour metastasize to?
lungs
occasionally liver
Where does osteosarcoma metastasize to?
lungs
bones
Where does neuroblastoma metastasize to?
cortical bone bone marrow liver distant lymph nodes skin dura eyes rarely pulmonary or intracranial
Where does medulloblastoma metastasize to?
leptomeningeal
Hereditary spherocytosis
1) method of transmission
2) clinical features
3) lab features
4) treatment
1) AD 75%, new mutation 25%
2) asymptomatic to severe hemolytic anemia, most commonly hemolytic disease of newborn (anemia & hyperbili), anemia, gallstones, splenomegaly, *susceptibility to aplastic crises
3) MCV normal, MCH normal to increased
4) splenectomy at 5-6yrs if severe, folic acid, vaccines for encapsulated organisms
Advantages of leukodepletion in transfusions?
reduces virus transmission (*CMV)
reduces alloimmunization to HLA antigens
reduces incidence of febrile transfusion reactions
What are the following hemoglobins made of? A A2 F HbH Hb Bart
A - a2b2 A2- a2d2 F- a2g2 HbH- b4 Hb Bart- g4
How many copies of alpha globin?
Describe what happens when they get knocked out & test results.
4 alpha globin copies on chr 16
1 missing: silent carrier
2 missing: alpha-Thalassemia trait, lower Hgb concentration in cells= normal Hgb electrophoresis, mild anemia (microcytic, hypochromic), occ HbH incl bodies. diagnose with molecular testing
3 missing: hemoglobin H disease, moderate anemia, hgb electrophoresis show HbH
4 missing: hydrops fetalis, Hb Bart
G6PD
- mode of inheritance & likely ethnicities
- describe problem
- describe crisis
- most common triggers
- X-linked & Mediterranean, Jews, South Asians
- G6PD works with NADPH to keep glutathione mopping up free oxidants within RBCs, depletion leads to protein & enzyme damage which lead to hemolysis
- hemolysis, jaundice
- Abx (TMP-SMX, nitrofurantoin), antimalarials, methylene blue, ASA, naphthalene, DKA, sepsis, hepatitis…
Cyclophosphamide side effect?
hemorrhagic cystitis
can also be caused by other meds, viruses, radiation, amyloidosis, polyoma BK virus in immunosuppressed
Risk factors for cerebrovascular disease in sickle cell?
as per UTD
prior TIA
low steady state Hgb (high percentage HgbS)
rate of acute chest syndrome
episode of acute chest within last 2 weeks
elevated systolic blood pressure
Diamond Blackfan anemia
- mode of inheritance
- age of presentation
- clinical features
- lab features
- treatment
- AD +/- 50%
- 2-6 months, 90% <1yr
- short stature, dysmorphisms 50%
- normochromic, macrocytic, reticulocytopenia, BM normal, high HgbF, high erythrocyte adenine deaminase
- steroids, transfusions, SCT
Transient Erythroblastopenia of Childhood
- age range
- pathophys
- lab findings
- natural history
most common red cell aplasia in children!
- 6mo to 3yrs, mean age at dx 26months
- ?viral, temporary suppression of erythropoiesis, some neutropenia can occur, thrombocytosis as well
- recover in 1-2 months
How many copies of beta globin?
Describe what happens when they get knocked out & test results.
2 beta globin copies
1 missing: beta-thalassemia minor, mild anemia with low MCV and high RBC. Hemoglobin electrophoresis starts normal but by 1 yr HgbA2 +/- HgbF are elevated. No treatment necessary.
2 missing: beta-thal major or Cooley anemia. Transition from HgbF to A cannot occur so by 1 yr have severe microcytic, hypochromic anemia. They have FTT, HSM, CHF, bone marrow expansion for hematopoiesis, need for chronic transfusions and develop iron overload. SCT to fix.
Beckwith-Wiedeman screening for what and how often?
- hypoglycemia, with random and for symptoms during first days of life
- screen for developmental issues
- Wilms tumour and hepatoblastoma: abdominal ultrasound q3 months until 8 years with serum AFP q2-3 months during first 4 years
- nephrocalcinosis, nephrolithiasis and medullary sponge kidney: abdo US q1-2 years with urinary calcium:creatinine ratio
Advantages of irradiated blood?
Further inactivates donor cells to reduce GVHD
Indications for washed pRBCs?
history of hemolytic transfusion reaction
Good prognostic indicators for ALL?
rapid response to therapy
cellular indices like hyperdiploidy, trisomies 4 and 10, t12:21, FAB L1 subtype)
Poor prognostic indicators in ALL?
6
age <1 or >10 philadelphia chromosome t9:22 WBC >50,000 at presentation Mature B-cell leukemia T-cell leukemia Monosomies
Genetic conditions predisposing to childhood leukemia
aim for 5
Ataxia-telangiectasia C(K)linefelters, Kostmann syndrome Down syndrome Diamond-Blackfan anemia nEurofibromatosis1 Fanconi anemia, Li Fraumeni Schwachman-Diamond syndrome SCID PNH Wiskott Aldrich
Maximum amount of cow’s milk?
Dose of treatment iron?
Duration of iron treatment?
<20 oz daily
4-6mg/kg elemental iron
8 weeks after blood values normalize
Anterior mediastinal mass differential diagnosis?
Teratoma Thymoma Thyroid tumour T-cell leukemia Terrible lymphoma
Middle mediastinal mass differential diagnosis?
Lymphoma
Bronchogenic cyst or tumour
Pathognomonic feature of Hodgkin lymphoma
Reed-Sternberg cell
Most common age group and presentation of Hodgkin lymphoma?
15-19 year old
75% present with mediastinal disease
Name the tumour location:
Gaze palsy
Multiple cranial nerve palsies
Upper motor neuron deficits
Brainstem tumour
Name the tumour location:
Focal disorders like motor weakness, sensory changes, speech disorders, seizures and reflex abnormalities
Early hand preference in infants
Supratentorial tumours
Name the tumour location:
Neuroendocrine deficits: DI, galactorrhea, precocious puberty, hypothyroidism
Suprasellar region tumours and third ventricular region tumours
Name the tumour location:
Headache, nausea, vomiting and papilledema
Disorders of equilibrium, gait, coordination
Classically associated with infratentorial tumours
Name the tumour location:
Blurred vision, diploplia and nystagmus
Classically associated with infratentorial tumours
Name the tumour location:
failure to thrive, emaciation, euphoria, increased appetite
Tumour in the diencephalon, just above the brainstem
Name the tumour location:
upward gaze palsy, dissociation of pupillary response to light and accommodation, and failure of ocular convergence
Parinaud syndrome
Pineal gland tumour
ITP therapy options?
3
IVIG - rapid rise within 48hrs, s/e headache and vomiting
Anti-D Therapy - for Rh positive patients, induces mild hemolytic anemia and interferes with platelet destruction, rare life-threatening hemolytic cases have occurred
Prednisone - reeeeally ask yourself if you need to do a bone marrow biopsy to rule out ALL before you start
Indications for splenectomy in ITP?
2
> 4yr old with >1yr and whose symptoms are not easily controlled (that OR Rituximab for chronic ITP)
Life threatening hemorrhage complicating ITP with failure of medical therapy
Risk of transmission of these diseases in blood transfusions? HIV Hep C Hep B Parvo
HBV 1/1-1.3 million
HCV 1/5-7 million
HIV 1/ 8-12 million
1/5-20 thousand
6 year old with eczema, gingival bleeding and recurrent AOMs, pneumonias
- what inheritance?
- susceptibility to which infection?
Wiskott Aldrich
eczema, thrombocytopenia, recurrent infections particularly with encapsulated organisms
x-linked
What are lethal complications of excessive iron stores?
other effects of excessive iron stores?
- congestive heart failure and lethal arrhythmias
- endocrine dysfunction (hypoT4, hypogonadotropic gonadism, GH deficiency, hypoPTH, DM)
What factors are involved in the intrinsic pathway?
12, 11, 9, 8
contact factors
PTT
What factors are in the extrinsic pathway?
7
tissue factors
PT
What factors are in the common pathway?
10, 5, 2, 1
phospholipids
2=prothrombin
1=fibrinogen
VWD test abnormality?
Maybe none! Otherwise aPTT prolonged
Vitamin K dependent factors?
2, 7, 9, 10
Which organ systems are most commonly involved in Langerhans cell histiocytosis?
BONE (skull, femur, rib, vertebrae) SKIN (brown to purplish papules, resembles candida) liver* spleen* oral mucosa lung bone marrow* CNS *indicates worse prognosis
Baby with petechiae and bruising, CBC shows severe isolated thrombocytopenia. Remainder of investigations normal including mum’s CBC.
Treatment?
If that fails?
- rescue therapy with PLA-1 negative platelets, IVIG if persistent
Neonatal alloimmune thrombocytopenic purpura (NATP)
- can be verified by identifying maternal Ab to paternal platelet antigens
- IVIG +/- steroids to mum in the second trimester if anticipated
- plan c/section
Neonatal ITP treatment?
IVIG +/- steroids
Mum’s and baby’s platelets being attacked, often secondary to SLE or ITP
What is the Mentzer index?
MCV/RBC
if <13 thalassemia more likely
yes! because thalassemias have high RBC, lots of cells, just smaller and less Hgb
Neuroblastoma sites of metastasis?
lymph nodes, long bones, skull, bone marrow, liver, skin
RARE to lungs and brain
Neuroblastoma presenting symptoms?
local disease with mass & metastases
Horner syndrome
Paraneoplastic syndrome: opsoclonus-myoclonus
Catecholamine production: sweating, hypertension
Vasoactive peptide production: secretory diarrhea
Tumour lysis syndrome findings and treatment?
high uric acid, phosphates and potassium
low calcium
Allopurinol to prevent
If TLS established, rasburicase
Favourable prognosis factors in neuroblastoma
4
stage 1, 2A/2B, 4S
age <1 year
No Myc-N amplification
hyperdiploid and favourable histology
chemo man!
C-ears
carboplatin & cysplatin:
nephrotoxic & acoustic nerve damage
chemo man!
V-arms and legs
vincristine:
peripheral neuropathy
chemo man!
B-lungs
bleomycin:
pulmonary fibrosis
chemo man!
D-heart
doxorubin:
dilated cardiomyopathy
chemo man!
C-kidneys
cisplatin & carboplatin:
nephrotoxic and acoustic nerve damage
chemo man!
CY-bladder&urethra
cyclophosphamide:
hemorrhagic cystitis
chemo man!
56 & M for femur
5FU, 6-MP, Methotrexate:
myelosuppression
What is the formula to calculate an exchange transfusion in a polycythemic newborn?
Volume of exchange (mL) = Blood volume (80mL x wt kg) X (observed - desired Hct)/observed Hct
Long-term cyclophosphamide side effect?
cyclophosphamide - infertility
Long-term Hodgkin lymphoma treatment side-effects?
growth retardation thyroid dysfunction (radiation) cardiac toxicity (doxo) secondary malignancy scoliosis impaired growth restrictive lung disease
What is associated with del 11p13 (WT1 and PAX6)
WAGR syndrome
Wilms tumour, aniridia, genitourinary anomalies and mental retardation
What is associated with a WT1 missense mutation?
Denys-Drash syndrome
early onset renal failure with mesangial cell sclerosis, male pseudohermaphrodism
