98 - Bone Marrow Failure Syndrome (AA, MDS)

Question 1

Hypoproliferative anemias can be __, __, __. All of them are characterized by a __ reticulocyte count.

Answer 1

Normochromic, normocytic, or macrocytic

low

Question 2

Define AA (Aplastic Anemia)

Answer 2

Pancytopenia with bone marrow hypocellularity

Question 3

Give 3 examples of genetic AA

Answer 3

1. Fanconi anemia
2. Dyskeratosis congenita
3. Schwachman Diamond syndrome

Question 4

List the different etiology of AA (8)

Answer 4

1. Radiation (occupational, accidental)
2. Chemicals (benzene)
3. Drugs
4. Infections (posthepatitis)
5. Immunologic disease (GVHD, thymoma)
6. Pregnancy
7. PNH
8. Constitutional disorders (Fanconi anemia, dyskeratosis congenita, Schwachman- Diamond syndrome)

Question 5

What is the clinical presentation of Fanconi anemia (3)?

Answer 5

1. Short stature
2. Cafe au lait spots
3. Anomalies (missing thumb, radius G/U tract)

Question 6

What is the Dyskeratosis congenita triad (3+1)?

Answer 6

1. Mucous membrane leukoplakia
2. Dystrophic nails
3. Reticular hyperpigmentation
   * plus AA in childhood

Question 7

What are usually the most common symptoms in AA (2)?

Answer 7

1. Bleeding (easy bruising, oozing of the gums, nose bleeds, heavy menstrual flow)
2. Infections

Question 8

What are the two questions you must ask when AA is suspected?

Answer 8

1. Chemical exposure

2. Preceding infection

Question 9

Name the signs seen in physical examination of an AA patient (3)

Answer 9

1. Petechiae and ecchymoses
2. Rectal bleeding
3. Pallor

Question 10

What do you see in blood smear of AA (4)?

Answer 10

1. Large erythrocytes
2. Very few platelets and granulocytes
3. High MCV
4. Reticulocytes are absent or few

Question 11

What are the two things needed for AA diagnosis?

Answer 11

1. Pancytopenia

2. Fatty BM

Question 12

What are the 4 cases of bone marrow failure syndromes?

Answer 12

AA (aplastic anemia)
MDS (myelodysplastic syndrome )
PRCA (pure red cell aplasia)
myelophthisis

Question 13

What is the most important prognostic factor in AA? the __. When reticulocytes >__, >lymphocytes >__ - good prognosis under __ therapy. Spontaneous resolution is __.

Answer 13

severity of counts
25K
1000
immunosuppressive 
rare

Question 14

When treating AA, all drugs should be __. Treat with __, and support with preventing __ and giving __/__ as needed. __ and __ are not effective

Answer 14

withheld 
infections
blood/platelets
GCSF
EPO

Question 15

The definitive treatment for AA is ___. Survival in young adults- __% , in older patients- consider __.

Answer 15

Stem cell transplantation
90
immunosuppression

Question 16

Immunosuppression for AA consists of __+__. It is recommended for patients that will not go through __ or for __. Relapse and progression to malignancies are __

Answer 16

cyclosporine + ATG
transplantation
bridging
common

Question 17

Pure red cell aplasia involves only the __ count - lack of __ and __ precursor cells.

Answer 17

red
erythrocytes
erythroid

Question 18

PRCA in adults is always __, but the congenital form is usually - __. The pathophysiology is __ and patients react well to __ therapy.

Answer 18

acquired
Diamond–Blackfan anemia
AI
immunosuppressive

Question 19

DDx for PRCA include:

• secondary to ___ malignancy (__/__)
• ___ (rule out with imaging)
• __ and reaction to __
• Chronic ___ infection (typically __ are found in the BM)

Answer 19

hematologic (CLL/large granular lymphocytosis)
thymoma
EPO, drugs
parvovirus B19- pronormoblasts

Question 20

MDS is a group of hematologic syndromes characterized by BM ___ and an inclination to develop __

Answer 20

suppression

AML

Question 21

Unlike AA, MDS is characterized by a high BM __ and __ cells.

Answer 21

cellularity

atypical

Question 22

MDS is defined by

Answer 22

20

AML

Question 23

MDS is more common in __ age, median age of __. more common in __.

Answer 23

old
70
men

Question 24

MDS usually present itself with symptoms of __. If __ or __ loss are present- suspect __ disease

Answer 24

anemia
fever
weight
myeloproliferative

Question 25

MDS physical examination may show __ signs, and in __%- __. Other signs include __ lesions.

Answer 25

anemia
20
splenomegaly
skin

Question 26

Blood smear of MDS is usually characterized by __cytic __, large __ without __.Hypogranulated __ with __ bodies ( light blue-gray, oval, basophilic, inclusions located in the peripheral cytoplasm of neutrophils), and abnormally segmented ___

Answer 26

macrocytic
anemia
platelets
granules
neutrophils 
Döhle bodies 
nuclei

Question 27

BM smear of MDS is usually __/__ cellular but in 20% it will be __. Ring ___ are shown in red count, while white count may show multiple ___ and __. Prognosis is correlated with the amount of __

Answer 27

normo/hyper
hypo
sideroblasts 
myeloblasts 
megakaryocytes
blasts

Question 28

The prognosis of MDS depends on the amount of __ in the BM, the severity of __ and other __.

Answer 28

blasts
cytopenia
diseases

Question 29

Treating MDS involves: 
\_\_ transplantation- the definitive treatment, but high % of complications.
\_\_ analogs
\_\_ (thalidomide analogue)
\_\_ therapy (\_\_/\_\_/\_\_)
supportive care (\_\_/\_\_/\_\_/\_\_)

Answer 29

stem cells
pyrimidine
lenalidomide
immunosuppressive (ATG/alemtuzumab/cyclosporine)
blood/platelets/EPO/GCSF