Correspondence

Fanconi's Anemia

N Engl J Med 1994; 330:720-721March 10, 1994

Article

To the Editor:

We have several comments on the Image in Clinical Medicine entitled “Some Features of Fanconi's Anemia” (Oct. 14 issue)1. It is gratifying that efforts are being made to increase physicians' awareness of the clinical features of this disease; however, it is also important for readers to realize that there is extreme clinical heterogeneity among patients with Fanconi's anemia.

Recently, we analyzed clinical data from 370 patients with Fanconi's anemia who were enrolled in the International Fanconi Anemia Registry2. Of these, 220 (60 percent) represented probands with congenital malformations. In addition to the short stature, cafe au lait spots, and radial-ray and renal malformations described by Hagerman and Williams,1 affected patients presented with cardiac, gastrointestinal, central nervous system, and various skeletal abnormalities. In addition, genital anomalies were common in male patients. Approximately 50 percent of the patients had radial-ray abnormalities. These ranged from bilateral absent thumbs and radii to a unilateral hypoplastic thumb or bifid thumb. Among the patients with congenital malformations, only 28 percent were given a diagnosis before the onset of hematologic manifestations.

In addition, we examined the clinical features of patients with Fanconi's anemia who did not have congenital malformations (a group constituting approximately one third of all patients enrolled in the International Fanconi Anemia Registry). Eighty-five percent of these patients had at least one of the following findings: skin-pigmentation abnormalities, microphthalmos, or height, weight, or head circumference in the lowest 5 percent for their age. Minor congenital anomalies were noted in approximately 20 percent of these patients.

We postulate that a lack of awareness of the full spectrum of abnormalities associated with Fanconi's anemia is responsible for the delayed diagnosis of this disorder among patients with congenital malformations. We believe that clinicians should realize that the clinical features of Fanconi's anemia are heterogeneous and the majority of patients do not have the “characteristic” features originally described by Fanconi3.

Philip F. Giampietro, M.D., Ph.D.
Jessica G. Davis, M.D.
Cornell University Medical College

Arleen D. Auerbach, Ph.D.
Rockefeller University, New York, NY 10021

3 References

1. 1

   Hagerman DA, Williams GP. Some features of Fanconi's anemia. N Engl J Med 1993;329:1168-1168
   Full Text | Web of Science | Medline

2. 2

   Giampietro PF, Adler-Brecher B, Verlander PC, Pavlakis SG, Davis JG, Auerbach AD. The need for more accurate and timely diagnosis in Fanconi anemia: a report from the International Fanconi Anemia Registry. Pediatrics 1993;91:1116-1120
   Web of Science | Medline

3. 3

   Fanconi G. Familial constitutional panmyelocytopathy, Fanconi's anemia (F.A.). I. Clinical aspects. Semin Hematol 1967;4:233-240
   Medline

Citing Articles (1)

Citing Articles

1. 1

   EMMANUEL LOUCAS, GLENN RUSSO, LARRY E. MILLIKAN. (1995) GENETIC AND ACQUIRED CUTANEOUS DISORDERS ASSOCIATED WITH INTERNAL MALIGNANCY. International Journal of Dermatology 34:11, 749-758
   CrossRef