Fanconi's syndrome; acquired
Alternative names:
acquired Fanconi's syndrome
Definition:
An inherited blood
disease in which the bone marrow fails to produce all types
of blood cells. Lack of white blood cells results in predisposition
to infections, while lack of platelets and red blood cells
result in bleeding, and fatigue (anemia), respectively. It
is also associated with a broad variety of physical anomalies.
(Fanconi’s anemia is distinct from Fanconi’s syndrome, a rare
kidney disorder in which nutrients are lost through the urine.)
Expectations (prognosis) & Complications:
It was previously thought that the median survival of patients
with Fanconi’s anemia was 25 years, although a wide range
was observed. Survival is likely significantly improved with
the improvement of current therapies in recent years. Bone
marrow transplant can completely cure these patients of the
primary disease. However, patients with Fanconi’s anemia remain
predisposed to leukemia (develops in 10-15% of patients),
myelodysplastic syndrome, liver cancer and other cancers.
A physician should closely follow women with Fanconi’s anemia
who become pregnant. They often require transfusion support
throughout pregnancy. Fertility is decreased in males, although
a small number of Fanconi’s patients have fathered children.
References:
Guardiola P. Pasquini R. Dokal I. Ortega
JJ. van Weel-Sipman M. Marsh JC. Ball SE. Locatelli F. Vermylen
C. Skinner R. Ljungman P. Miniero R. Shaw PJ. Souillet G.
Michallet M. Bekassy AN. Krivan G. Di Bartolomeo P. Heilmann
C. Zanesco L. Cahn JY. Arcese W. Bacigalupo A. Gluckman E.
Outcome of 69 allogeneic stem cell transplantations for Fanconi
anemia using HLA-matched unrelated donors: a study on behalf
of the European Group for Blood and Marrow Transplantation:
Blood. 95(2): 422-9, 2000 Jan 15.
Kohli-Kumar M. Morris C. DeLaat C. Sambrano
J. Masterson M. Mueller R. Shahidi NT. Yanik G. Desantes K.
Friedman DJ. et al. Bone marrow transplantation in Fanconi
anemia using matched sibling donors: Blood. 84(6): 2050-4,
1994 Sep 15.
Rackoff WR. Orazi A. Robinson CA. Cooper
RJ. Alter BP. Freedman MH. Harris RE. Williams DA. Prolonged
administration of granulocyte colony-stimulating factor (filgrastim)
to patients with Fanconi anemia: a pilot study: Blood. 88(5):
1588-93, 1996 Sep 1.
Liu JM. Buchwald M. Walsh CE. Young NS. Fanconi
anemia and novel strategies for therapy: Blood. 84(12): 3995-4007,
1994 Dec 15.
Updated Date: 05/08/00
Updated by: Bradley G. Somer, MD, Division
of Hematology-Oncology, Hospital University of Pennsylvania,
Verimed Health Network
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