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Year 2 - 2nd Semester > Pancytopenia > Flashcards

Pancytopenia Flashcards

Includes Aplastic anaemia + Myelodysplastic syndromes (MDS) questions

1
Q

What is pancytopenia?

A

A deficiency of blood cells of all lineages (excluding lymphocytes)

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2
Q

Does pancytopenia always indicate bone marrow failure or malignancy?

A

No

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3
Q

What are the two categories of bone marrow failure causing pancytopenia?

A

Inherited syndromes (rare) and acquired causes (more common)

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4
Q

What are inherited syndromes characterised by?

A

(1) Impaired haematopoiesis (process of producing new blood cell)

(2) Congenital abnormalities

(3) Cancer predisposition

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5
Q

What genetic defect is seen in Fanconi’s anaemia?

A

Inability to correct inter-strand cross-links (DNA damage) due to autosomal recessive defects

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6
Q

What is idiopathic aplastic anaemia caused by?

A

Autoreactive T-cells targeting haematopoiesis (autoimmune)
= makes it stop producing blood cells

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7
Q

What is the hallmark of myelodysplastic syndromes (MDS)?

A

Increased apoptosis of progenitor and mature cells with a risk of progression to acute myeloid leukemia

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8
Q

Name a primary acquired cause of bone marrow failure with a propensity for malignancy

A

Acute leukaemia

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9
Q

What are common secondary causes of acquired bone marrow failure?

A

Drug-induced (e.g., chemotherapy, methotrexate, chloramphenicol)

B12/folate deficiency

Infiltrative diseases (e.g., lymphoma)

Viral infections (e.g., HIV)

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10
Q

How can hypersplenism lead to pancytopenia?

A

By increasing splenic pooling or destruction of blood cells faster than bone marrow production

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11
Q

Name three causes of hypersplenism

A

(1) Splenic congestion (e.g., portal hypertension)

(2) Systemic diseases (e.g., rheumatoid arthritis, Felty’s syndrome)

(3) Haematological diseases (e.g., splenic lymphoma)

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12
Q

What triad of blood cell deficiencies defines pancytopenia?

A

Anaemia, neutropenia, and thrombocytopenia

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13
Q

What bone marrow finding is seen in aplastic anaemia?

A

Hypocellular marrow

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14
Q

What bone marrow finding is seen in B12/folate deficiency or hypersplenism?

A

Hypercellular marrow

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15
Q

What are the common symptoms of anaemia in pancytopenia?

A

Fatigue, shortness of breath, and cardiovascular compromise

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16
Q

How does neutropenia present?

A

Severe and prolonged infections, with opportunistic infections being common

17
Q

What are the symptoms of thrombocytopenia?

A

Bleeding (purpura, petechiae, ‘wet’ bleeds)

18
Q

What does pancytopenia show on a full blood count (FBC)?

A

Low Hb, WCC, and platelets

19
Q

What specialised test can confirm Fanconi’s syndrome?

A

Chromosome fragility testing

20
Q

What transfusions are given in pancytopenia?

A

Red cell and platelet transfusions

21
Q

What is the treatment for idiopathic aplastic anaemia?

A

Immunosuppression

22
Q

How is B12/folate deficiency treated?

A

Replace the deficient vitamins

23
Q

What are the diagnostic criteria for aplastic anaemia?

A

Diagnosis requires at least 2 of the following:

(1) Haemoglobin <10 g/dL (anaemia)
(2) Platelets <50 x 10^9/L (thrombocytopenia)

(3) Absolute neutrophil count <1.5 x 10^8/L (neutropenia)

24
Q

What symptoms are commonly associated with pancytopenia in aplastic anaemia?

A

Anaemia: Fatigue and pallor.
Leukopenia: Infection.
Thrombocytopenia: Easy bruising/bleeding

25
Q

What additional features may be present in patients with Fanconi’s anaemia?

A

(1) Pigmentation abnormalities

(2) Hearing defects

(3) Renal and genital abnormalities

(4) Solid tumours

(5) Short stature

26
Q

What unique features are associated with dyskeratosis congenita in aplastic anaemia?

A

Nail malformations

Oral leukoplakia
= White patches in the mouth that can be precancerous

Reticulated skin rash
= A lacy, net-like pattern of skin discoloration

27
Q

What does a Full Blood Count (FBC) typically show in aplastic anaemia?

A

Pancytopenia

28
Q

What does the bone marrow typically look like in aplastic anaemia?

A

Hypocellular, often replaced by fat

29
Q

What is the Gold Standard diagnostic test for aplastic anaemia?

A

Bone Marrow Aspiration and Biopsy

30
Q

What is the preferred treatment for severe aplastic anaemia?

A

Hematopoietic Stem Cell Transplant (HSCT)

31
Q

Parvovirus B19

A

Aplastic Anaemia

32
Q

How do aplastic anemia and myelodysplastic syndromes (MDS) differ?

A

Aplastic anaemia is marked by hypocellular bone marrow and pancytopenia without abnormal cells.

MDS features hypercellular bone marrow with dysfunctional, abnormal cells and ineffective hematopoiesis, often leading to cytopenias and acute leukaemia

33
Q

MDS has the potential to transform into acute myeloid leukaemia. What would need to be the number of blast cells on the blood film for this to happen?

A

> 20%

34
Q

What does cytopenia mean?

A

Red blood cells = anaemia
White blood cells = Leukopenia
Platelets = thrombocytopenia

35
Q

What condition is commonly associated with the presence of ring sideroblasts, and are they exclusive to this condition?

A

Myelodysplastic Syndrome (MDS)

but can also be seen in other conditions such as
(1) sideroblastic anaemia
(2) Chronic alcoholism
(3) Lead poisoning

36
Q

A 5-year-old with short stature, hyperpigmentation of the skin, recurrent infections, and pancytopenia on blood tests is suspected of having a genetic disorder. What condition do these features most likely indicate?

A

Fanconi Anemia,

= short stature, hyperpigmentation, pancytopenia, and is inherited in an autosomal recessive pattern

37
Q

A 6-year-old boy presents with fatigue, pallor, and recurrent infections. On examination, he has short stature, hyperpigmentation of the palms, and a full blood count shows pancytopenia. Bone marrow biopsy reveals normal cell morphology. What is the most likely diagnosis?

A) Fanconi anemia
B) Idiopathic aplastic anemia
C) Myelodysplastic syndrome (MDS)

A

Fanconi anemia

38
Q

What are the key differences between
1. Fanconi anaemia
2. Idiopathic aplastic anaemia
3. MDS

A

Fanconi anaemia
= Congenital defects, pancytopenia, hyperpigmentation, genetic (autosomal recessive).

Idiopathic aplastic anaemia
= No congenital features, pancytopenia, or bone marrow failure with hypocellular marrow

MDS
= Older age, dysplastic changes in bone marrow, hypercellular marrow and abnormal cell morphology.

39
Q

An outbreak of slapped cheek syndrome at school suggests what?

A

An aplastic crisis is usually triggered by parvovirus B19 infection, which causes slapped cheek syndrome

Year 2 - 2nd Semester (24 decks)

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