Pancytopenia Flashcards
Includes Aplastic anaemia, Fanconi’s anaemia + Myelodysplastic syndromes (MDS)
What is pancytopenia?
A deficiency of blood cells of all lineages (excluding lymphocytes)
Does pancytopenia always indicate bone marrow failure or malignancy?
No
What are the two categories of bone marrow failure causing pancytopenia?
Inherited syndromes (rare) and acquired causes (more common)
What are inherited syndromes characterised by?
(1) Impaired haematopoiesis (process of producing new blood cell)
(2) Congenital abnormalities
(3) Cancer predisposition
What genetic defect is seen in Fanconi’s anaemia?
Inability to correct inter-strand cross-links (DNA damage) due to autosomal recessive defects
What is idiopathic aplastic anaemia caused by?
Autoreactive T-cells targeting haematopoiesis (autoimmune)
= makes it stop producing blood cells
What is the hallmark of myelodysplastic syndromes (MDS)?
Increased apoptosis of progenitor and mature cells with a risk of progression to acute myeloid leukemia
Name a primary acquired cause of bone marrow failure with a propensity for malignancy
Acute leukaemia
What are common secondary causes of acquired bone marrow failure?
Drug-induced (e.g., chemotherapy, methotrexate, chloramphenicol)
B12/folate deficiency
Infiltrative diseases (e.g., lymphoma)
Viral infections (e.g., HIV)
How can hypersplenism lead to pancytopenia?
By increasing splenic pooling or destruction of blood cells faster than bone marrow production
Name three causes of hypersplenism
(1) Splenic congestion (e.g., portal hypertension)
(2) Systemic diseases (e.g., rheumatoid arthritis, Felty’s syndrome)
(3) Haematological diseases (e.g., splenic lymphoma)
What triad of blood cell deficiencies defines pancytopenia?
Anaemia, neutropenia, and thrombocytopenia
What bone marrow finding is seen in aplastic anaemia?
Hypocellular marrow
What bone marrow finding is seen in B12/folate deficiency or hypersplenism?
Hypercellular marrow
What are the common symptoms of anaemia in pancytopenia?
Fatigue, shortness of breath, and cardiovascular compromise
How does neutropenia present?
Severe and prolonged infections, with opportunistic infections being common
What are the symptoms of thrombocytopenia?
Bleeding (purpura, petechiae, ‘wet’ bleeds)
What does pancytopenia show on a full blood count (FBC)?
Low Hb, WCC, and platelets
What specialised test can confirm Fanconi’s syndrome?
Chromosome fragility testing
What transfusions are given in pancytopenia?
Red cell and platelet transfusions
What is the treatment for idiopathic aplastic anaemia?
Immunosuppression
How is B12/folate deficiency treated?
Replace the deficient vitamins
What are the diagnostic criteria for aplastic anaemia?
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)
What symptoms are commonly associated with pancytopenia in aplastic anaemia?
Anaemia: Fatigue and pallor.
Leukopenia: Infection.
Thrombocytopenia: Easy bruising/bleeding
What additional features may be present in patients with Fanconi’s anaemia?
(1) Pigmentation abnormalities
(2) Hearing defects
(3) Renal and genital abnormalities
(4) Solid tumours
(5) Short stature
What unique features are associated with dyskeratosis congenita in aplastic anaemia?
Nail malformations
Oral leukoplakia
= White patches in the mouth that can be precancerous
Reticulated skin rash
= A lacy, net-like pattern of skin discoloration
What does a Full Blood Count (FBC) typically show in aplastic anaemia?
Pancytopenia
What does the bone marrow typically look like in aplastic anaemia?
Hypocellular, often replaced by fat
What is the Gold Standard diagnostic test for aplastic anaemia?
Bone Marrow Aspiration and Biopsy
What is the preferred treatment for severe aplastic anaemia?
Hematopoietic Stem Cell Transplant (HSCT)
Parvovirus B19
Aplastic Anaemia
How do aplastic anemia and myelodysplastic syndromes (MDS) differ?
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
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?
> 20%
What does cytopenia mean?
Red blood cells = anaemia
White blood cells = Leukopenia
Platelets = thrombocytopenia
What condition is commonly associated with the presence of ring sideroblasts, and are they exclusive to this condition?
Myelodysplastic Syndrome (MDS)
but can also be seen in other conditions such as
(1) sideroblastic anaemia
(2) Chronic alcoholism
(3) Lead poisoning
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?
Fanconi Anemia,
= short stature, hyperpigmentation, pancytopenia, and is inherited in an autosomal recessive pattern
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)
Fanconi anemia
What are the key differences between
1. Fanconi anaemia
2. Idiopathic aplastic anaemia
3. MDS
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.
An outbreak of slapped cheek syndrome at school suggests what?
An aplastic crisis is usually triggered by parvovirus B19 infection, which causes slapped cheek syndrome
A 15-year-old boy has been diagnosed with aplastic anaemia. He comes from a family of farmers and as a young child was often found playing hide and seek in the barns used to store pesticides and other chemicals. He presented to his GP with fatigue, dyspnoea, and headaches. Subsequent blood tests showed a significant leucopenia. Aplastic anaemia is a failure of haematopoietic stem cells that give rise to progenitors of immune cells.
These cells are located primarily in which area of the body?
Bone marrow
