Kallish and Kaplan developed a scoring system to describe the severity of Type 1 Gaucher disease. The authors are from Floating Hospital for Children at Tufts Medical Center.
Bone Parameters:
(1) lytic bone lesions, avascular necrosis (AVN) or pathologic fracture
(2) recurrent bone or joint pain
(3) history of bone crisis within the past 12 months
(4) bone mineral density (BMD) Z score
Hematology Parameters:
(5) thrombocytopenia
(6) bleeding
(7) anemia and hemoglobin
Visceral Parameters:
(8) splenomegaly
(9) hepatomegaly
Growth Parameters
(10) percentile for height
(11) comparison to expected mid-parental height
(12) changes in height percentile
If a parameter is not known, then the number in the denominator is reduced accordingly.
|
Bone Parameter |
Finding |
Points |
|
lytic lesions, AVN, pathologic fracture |
absent |
0 |
|
|
present |
7 |
|
recurrent bone or joint pain |
none |
0 |
|
|
mild |
1 |
|
|
modeate |
2 |
|
|
severe |
3 |
|
bone crisis |
none |
0 |
|
|
1 |
2 |
|
|
>= 2 |
7 |
|
bone mineral density Z score |
> -1 |
0 |
|
|
-1 to –2 |
2 |
|
|
< -2 |
4 |
subscore for bone parameters =
= SUM(points for 4 parameters) / 4
|
Hematology Parameter |
Finding |
Points |
|
thrombocytopenia |
> 120,000 per µL |
0 |
|
|
90,000 to 120,000 |
2 |
|
|
60,000 to 89,000 |
4 |
|
|
< 60,000 |
6 |
|
bleeding |
none |
0 |
|
|
mild, bruising |
0 |
|
|
moderate |
2 |
|
|
severe, requiring transfusion |
3 |
|
anemia |
normal |
0 |
|
|
mild to moderate |
2 |
|
|
severe |
4 |
where:
• Mild to moderate anemia = hemoglobin 1 to 3 g/dL below normal.
• Severe anemia = hemoglobin > 3 g/dL below normal
• Normal hemoglobins: 10.1 g/dL if <= 6 months old; 9.5 g/dL if 6.01 months to 2 years old; 10.5 g/dL if 2 to 12 years old; 12 g/dL if male and > 12 years old; 11 g/dL if female and > 12 years old.
subscore for hematology parameters =
= SUM(points for 3 parameters) / 3
|
Visceral Parameters |
Finding |
Points |
|
splenomegaly |
< 2 times normal |
0 |
|
|
2 to 5 times normal |
2 |
|
|
5 to 15 times normal |
5 |
|
|
> 15 times normal |
7 |
|
hepatomegaly |
< 1.5 times normal |
0 |
|
|
1.5 to 2.5 times normal |
1 |
|
|
> 2.5 times normal |
2 |
subscore for visceral parameters =
= SUM(points for 2 parameters) / 2
|
Growth Parameters |
Finding |
Points |
|
percentile height |
> 25 th percentile |
0 |
|
|
5 to 25 th percentile |
3 |
|
|
< 5 th percentile |
5 |
|
comparison to expected mid-parental height |
greater than |
0 |
|
|
same as |
0 |
|
|
1 SD below expected |
4 |
|
|
2 SD below expected |
7 |
|
change in height percentile |
