Table 1.
Demographic and bone mineral density characteristics in patients with IBMFS.
| Parameter | DBA | DC | FA | SDS | All IBMFS |
|---|---|---|---|---|---|
| N (%) | 15 (20%) | 30 (40%) | 24 (32%) | 6 (8%) | 75 |
|
| |||||
| Male: Female | 10: 5 | 20:10 | 8:16 | 3: 3 | 41: 34 |
|
| |||||
| Median Age (IQR) | 21.6 (10.8–42.1) | 17.8 (13.9–27.7) | 24.2 (13.8–33.8) | 12.7 (12–13.5) | 19.2 (12.7–30.2) |
| Range (years) | 8.5–58.4 | 7.6–69 | 8.1–56.6 | 8.2–30.4 | 7.6–69 |
|
| |||||
| Height Z-score* | −0.94 (1.25) | −0.06 (1.12) | −1.62 (1.35) | −2.24 (2.18) | −0.91 (1.51) |
| Mean (±SD) | |||||
|
| |||||
| Adults / Children | Adults / Children | Adults / Children | Adults / Children | Adults / Children | |
|
| |||||
| Number | 8 / 7 | 11 / 19 | 15 / 9 | 1 / 5 | 35 / 40 |
|
| |||||
| Hypogonadism | 3 / 0 | 0 / 1 | 11 / 2 | 0 | 14 / 3 |
|
| |||||
| HSCT | 0 | 0 / 2 | 3 / 4 | 0 | 3 / 6 |
|
| |||||
| Oral glucocorticoids | 0 / 5 | 0 / 2 | 1 / 0 | 0 | 1 / 7 |
|
| |||||
| Inhaled steroids | 0 | 0 / 3 | 2 / 1 | 0 / 2 | 2 / 6 |
|
| |||||
| Androgens | 0 | 2 / 4 | 2 / 1 | 0 | 4 / 5 |
|
| |||||
| Estrogen/progesterone | 0 | 2 / 3 | 3 / 1 | 0 | 5 / 4 |
|
| |||||
| Low BMD N | 2 / 1 | 2 / 6 | 5 / 3 | 0 / 1 | 9 / 11 |
*
p<0.001 for overall height Z-score differences, and p<0.05 for each of SDS and FA vs. DC (post-hoc comparison)
HSCT Hematopoietic stem cell transplant; BMD Bone mineral density; IBMFS Inherited bone marrow failure syndrome; DBA Diamond-Blackfan anemia; DC Dyskeratosis congenita; FA Fanconi anemia; SDS Shwachman-Diamond syndrome; IQR inter-quartile range (25th percentile, 75th percentile)