IL10: WBV Disorder

Question 1

What is the definition of cytopenia?

Answer 1

Low blood cell counts across one or more blood cell lines

Cytopenia encompasses various conditions where blood cell production is impaired.

Question 2

What is the hemoglobin threshold for anemia in men?

Answer 2

Hemoglobin < 13.5 g/dL

Anemia is defined differently for men and women based on hemoglobin levels.

Question 3

What is the hemoglobin threshold for anemia in women?

Answer 3

Hemoglobin < 11.5 g/dL

This threshold indicates anemia specifically for female patients.

Question 4

What defines leukopenia?

Answer 4

WBC < 4000 /uL

Leukopenia indicates a decreased white blood cell count.

Question 5

What defines thrombocytopenia?

Answer 5

Platelet < 150,000/uL

Thrombocytopenia refers to low platelet counts in the blood.

Question 6

What are the categories of cytopenia?

Answer 6

• Inherited
• Acquired

Cytopenia can result from genetic conditions or acquired factors.

Question 7

Name one inherited cause of cytopenia.

Answer 7

Fanconi’s anemia

It is one of the most common inherited bone marrow failure syndromes.

Question 8

What are some acquired causes of cytopenia?

Answer 8

• Radiation
• Drugs and chemicals
• Viruses (Hepatitis, EBV, Parvovirus B19, HIV)
• Autoimmune diseases
• Hematologic malignancies
• Idiopathic

Acquired cytopenia can arise from various environmental and biological factors.

Question 9

What is pancytopenia?

Answer 9

All 3 blood cell lines are decreased

Pancytopenia indicates a reduction in red blood cells, white blood cells, and platelets.

Question 10

What is bicytopenia?

Answer 10

Two of the three blood cell lines are decreased

Bicytopenia can manifest as combinations such as anemia plus thrombocytopenia.

Question 11

What is the most common type of Fanconi’s anemia?

Answer 11

Type A Fanconi’s anemia (mutation in FANCA)

This type is notable for its association with inherited bone marrow failure.

Question 12

What are the clinical features of Fanconi’s anemia?

Answer 12

• Congenital developmental anomalies
• Short stature
• Cafe au lait spots
• Anomalies involving the thumb, radius, and genitourinary tract
• Progressive pancytopenia
• Increased risk of malignancy

These features highlight the complex presentation of Fanconi’s anemia.

Question 13

What is Dyskeratosis congenita?

Answer 13

X-linked disease characterized by abnormal nails, oral leukoplakia, reticular skin pigmentation

This condition is associated with a risk of cancer and other complications.

Question 14

What is Shwachman-Diamond syndrome?

Answer 14

Mutation in Shwachman-Diamond syndrome leading to exocrine pancreatic dysfunction, skeletal abnormalities, and bone marrow dysfunction

This syndrome affects multiple systems in the body.

Question 15

What is Evans Syndrome?

Answer 15

Two or more cytopenias, usually AIHA and ITP

Evans Syndrome is an autoimmune condition that can lead to multiple cytopenias.

Question 16

What are the treatments for Evans Syndrome?

Answer 16

• Prednisolone
• IVIG
• Anti-CD20 antibody
• Immunosuppressive drugs

These treatments aim to manage the autoimmune aspects of the syndrome.

Question 17

What characterizes Familial Aplastic Anemia?

Answer 17

Patient appears normal until bone biopsy

This condition often presents with normal external appearance but significant internal blood production issues.