Abstract
Inherited bone marrow failure syndromes (IBMFS) present chronic bone marrow failures, a familial incidence and high risk of malignancy.
Objective: we describe our experience with patients with IBMFS. Since 02/73 to 02/05, 60 patients (pts) with IBMSF were diagnosed.
| . | Fanconi’s Anemia . | Blackfand-Diamond . | TAR-Shwachman-Diamond-Dyskeratosis Congenita . | Amegakaryocytic Thrombocytopenia.- Kostmann’s S. . | Familial AA-Pearson’s S . |
|---|---|---|---|---|---|
| N Pts | 26 | 17 | 6 – 2 – 2 | 2 – 2 | 2 – 1 |
| Median age at diagnosis | 7.1 y | 3 m | 3m – 4 m – 6.4 y | 2 m – 1.8 m | 4 y – 3 y |
| First hematologic sign | Pancytopenia | Anemia | Thrombocytop. – Neutrop. – Pancytop. | Thrombocytop. – Neutrop. | Pancytop. – Anemia |
| Bone Marrow | Aplastic | Erythroid Aplasia | Megakar. Aplasia – Myeloid arrest– Aplastic | Megakar. Aplasia– Myeloid arrest | Aplastic – Vacuolated myeloid |
| Physical Abnorm.(%) | 88 | 47 | 100 – 50– 100 | 50 – 0 | 0 – 0 |
| Aplastic Anemia (%) | 100 | 0 | 0 – 0 – 100 | 50 – 0 | 100 – 100 |
| Leukemia / MDS (%) | 11.5 | 0 | 0 – 0 – 0 | 0 – 0 | 0 – 0 |
| Mortality(%) | 62 | 0 | 17 – 50 – 0 | 50 – 50 | 50 – 0 |
| . | Fanconi’s Anemia . | Blackfand-Diamond . | TAR-Shwachman-Diamond-Dyskeratosis Congenita . | Amegakaryocytic Thrombocytopenia.- Kostmann’s S. . | Familial AA-Pearson’s S . |
|---|---|---|---|---|---|
| N Pts | 26 | 17 | 6 – 2 – 2 | 2 – 2 | 2 – 1 |
| Median age at diagnosis | 7.1 y | 3 m | 3m – 4 m – 6.4 y | 2 m – 1.8 m | 4 y – 3 y |
| First hematologic sign | Pancytopenia | Anemia | Thrombocytop. – Neutrop. – Pancytop. | Thrombocytop. – Neutrop. | Pancytop. – Anemia |
| Bone Marrow | Aplastic | Erythroid Aplasia | Megakar. Aplasia – Myeloid arrest– Aplastic | Megakar. Aplasia– Myeloid arrest | Aplastic – Vacuolated myeloid |
| Physical Abnorm.(%) | 88 | 47 | 100 – 50– 100 | 50 – 0 | 0 – 0 |
| Aplastic Anemia (%) | 100 | 0 | 0 – 0 – 100 | 50 – 0 | 100 – 100 |
| Leukemia / MDS (%) | 11.5 | 0 | 0 – 0 – 0 | 0 – 0 | 0 – 0 |
| Mortality(%) | 62 | 0 | 17 – 50 – 0 | 50 – 50 | 50 – 0 |
Conclusion: 68 % pts. presented with associated physical abnormalities, 53 % began the symptoms with bone marrow aplasia. With a median follow up: 16. 3 years (r: 1y – 32 y), 39 (65%) pts are alive (9 pts. post bone marrow transplantation) and 3 pts with Fanconi’s Anemia developed refractory Acute Myeloblastic Leukemia.
Author notes
Corresponding author
2005, The American Society of Hematology
2005
