Fanconi Anemia 101 Blanche P Alter, MD, MPH, FAAP Clinical Genetics Branch Division of Cancer Epidemiology and Genetics Bethesda, MD FA Camp, August 10, 2012 When You Hear …., Think …., Or …. Horses Zebras Unicorns Some Things are Clear; Some are Not Koalas The opposite of FA! Open Minds “I‟ve never seen this before.” should be “I‟ve never recognized this before.” Questions 1. How many are new to FA Camp? 2. How many have been here before? 3. How many have FA and are 18 years of age or older? 4. How many think that the diagnosis of FA was initially missed by one or more physicians? 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 FA Literature, 1927-2011  Case Reports ~2200  Male:female = 1.3:1  Abnormal physical findings 66%  Died 684 (32%)  Alive, median age 11 yrs (0-56)  Died, median age 11 yrs (0-51) Biased by under-reporting, over-reporting, and missing data Fanconi Anemia: Children Photos with permission Fanconi Anemia: Adults Aplastic BMT donor, anemia, 16 50s Cancer, ?, 6 Absent radius, 0 30 Aplastic anemia, 5