Fanconi Anemia 101

64 Pages·2010·1.42 MB·English

Fanconi Anemia 101
FA Camp 2010
Blanche P Alter, MD, MPH, FAAP
Clinical Genetics Branch
Division of Cancer Epidemiology and Genetics
Bethesda, MD
When You Hear …., Think …., Or ….
Open Minds
“I‟ve never seen this before.”
should be
“I‟ve never recognized this before.”
Question
 How many think that the diagnosis of FA
was missed by one or more physicians
prior to being made?
History: Guido Fanconi
 Fanconi Anemia
(Fanconi
pancytopenia syndrome): 1927, 3
brothers with pancytopenia and
physical abnormalities,
“perniziosiforme”
 Fanconi Syndrome
(renal
Fanconi syndrome): 1936,
proteinuria, glucosuria,
phosphaturia, aminoaciduria,
citraturia, and proximal renal tubular
acidosis
Fanconi Anemia: Children
Photos with permission
Fanconi Anemia: Adults
Photos with permission
FA: Age at Diagnosis
FA
0 6.5 yr
0
3
y 0
c 0
n
2
e
u
q
e
r
F
0
0
1
0
0 10 20 30 40 50 60
Age, Years
Shimamura and Alter, Blood Reviews, 2010
Fanconi Anemia Literature Survival
FA
0
0
.
1
p<0.001 Recent better survival:
5
7
.  better treatment
0
y
ti  older diagnoses
li 21 29
b 0
a 5
b .
0
o
2000-2009
r
P
5 1927-1999
2
.
0
0
0
.
0
0 10 20 30 40 50 60 70
Years of Age
Shimamura and Alter, Blood Reviews, 2010
Literature: Physical Findings
Finding % Finding %
Low Birth Weight 52 Eyes 20
Short 45 Renal 20
Skin hyperpigmented 31 Developmental delay 10
Skin café au lait 18 Ears, deaf 8
Thumbs 32 Legs, hips, feet 6
Radii 7 Cardiopulmonary 6
Gonads male 26 Gastrointestinal tract 5
Gonads female 1 Brain/pituitary 3
Microcephaly 22 Short or skin only 7
All findings biased by under- or over-reporting!