Fanconi Anemia

Question 1

What is the inheritance pattern of Fanconi anemia?

Answer 1

Autosomal recessive (most common) or X-linked recessive (rare)

Question 2

What genetic defect is associated with Fanconi anemia?

Answer 2

Defective DNA repair genes leading to chromosomal instability

Question 3

What are the classic congenital anomalies seen in Fanconi anemia?

Answer 3

Short stature, café-au-lait spots, radial ray defects (thumb and radial bone anomalies), microcephaly, and renal malformations

Question 4

What hematologic findings are characteristic of Fanconi anemia?

Answer 4

Progressive pancytopenia with macrocytic anemia

Question 5

What type of anemia is seen in Fanconi anemia?

Answer 5

Macrocytic anemia (without hypersegmented neutrophils)

Question 6

What is the primary cause of death in Fanconi anemia?

Answer 6

Bone marrow failure or progression to leukemia (commonly AML)

Question 7

How is Fanconi anemia diagnosed?

Answer 7

Chromosomal breakage testing with diepoxybutane (DEB) or mitomycin C

Question 8

What malignancies are Fanconi anemia patients at increased risk for?

Answer 8

Acute myeloid leukemia (AML) and squamous cell carcinoma of the head, neck, and anogenital region

Question 9

What is the definitive treatment for Fanconi anemia?

Answer 9

Hematopoietic stem cell transplantation (HSCT)

Question 10

What supportive treatments are used in Fanconi anemia?

Answer 10

Androgens, hematopoietic growth factors, and transfusions for bone marrow failure

Question 11

What is the median age of bone marrow failure onset in Fanconi anemia?

Answer 11

Between 5 and 10 years of age

Question 12

How does Fanconi anemia differ from Diamond-Blackfan anemia?

Answer 12

Fanconi anemia involves pancytopenia and chromosomal instability, whereas Diamond-Blackfan anemia presents with pure red cell aplasia and normal chromosomes.

Question 13

Why do patients with Fanconi anemia develop aplastic anemia?

Answer 13

Due to defective DNA repair leading to increased chromosomal instability and bone marrow stem cell depletion.

Question 14

What are common skeletal anomalies in Fanconi anemia?

Answer 14

Thumb hypoplasia, absent thumbs, short stature, and radial ray defects

Question 15

What is the prognosis for Fanconi anemia?

Answer 15

Without treatment, median survival is 20-30 years. HSCT improves survival, but patients remain at risk for malignancies.