Zimran et al developed a severity scoring index to evaluate patients with Gaucher's disease. The authors are from Scripps Clinic in La Jolla, California.
Parameters:
(1) cytopenia
(2) splenomegaly
(3) history of splenectomy
(4) hepatomegaly
(5) liver function tests
(6) clinical evidence of liver disease
(7) CNS involvement
(8) other organ involvement
(9) bone objective findings
(10) bone subjective findings
(11) fractures
NOTE: This is the modified version from 1992. The previous version of the form published in 1989. Differences include:
(1) removal of age at time of diagnosis (from 0 to 6 points)
(2) addition of CNS disease
(3) distinguishing the number of cytopenias in the splenectomized patient
(4) removal of joint replacement and severe disability from bone assessment
(5) change in liver function tests from degree of abnormality (none, minor, severe)
|
Parameter |
Finding |
Points |
|---|---|---|
|
cytopenia |
unsplenectomized |
1 |
|
|
splenectomized and 1 cytopenia |
1 |
|
|
splenectomized and 2 cytopenias |
2 |
|
|
splenectomized and 3 cytopenias |
3 |
|
splenomegaly |
none |
0 |
|
|
mild (above level of umbilicus) |
1 |
|
|
moderate (between umbilicus and pelvic rim; does not cross to the right side) |
2 |
|
|
massive (extends below pelvic rim) |
3 |
|
splenectomy |
none |
0 |
|
|
performed |
3 |
|
hepatomegaly |
none |
0 |
|
|
mild (above level of umbilicus) |
1 |
|
|
moderate (between umbilicus and pelvic rim) |
2 |
|
|
massive (extends below pelvic rim) |
3 |
|
liver function tests |
normal |
0 |
|
|
some abnormal |
1 |
|
|
all abnormal |
2 |
|
clinical liver disease |
no |
0 |
|
|
yes |
4 |
|
CNS disease |
no |
0 |
|
|
yes |
20 |
|
other organ involvement |
no |
0 |
|
|
yes |
4 |
|
bone, objective findings |
no signs or symptoms |
0 |
|
|
imaging studies positive |
1 |
|
bone, subjective findings |
none |
0 |
|
|
mild, intermittent pain |
2 |
|
|
chronic pain (not due to fractures) |
3 |
|
fractures |
none |
0 |
|
|
following trauma |
1 |
|
|
aseptic necrosis |
5 |
|
|
pathologic fracture |
5 |
where:
• Cytopenias include thrombocytopenia, anemia and/or leukopenia.
• Liver function tests: AST, alkaline phosphatase, GGT and LDH.
• Other organ involvements: lungs, kidneys, heart, other
total score =
= SUM(points for all 11 parameters)
Interpretation:
• minimum score: 1
• maximum score: 51
• The higher the score the more severe the disease.
|
Score (1989 Version) |
Phenotype |
|---|---|
|
0 to 10 |
mild |
|
11 to 25 |
moderate |
|
>= 26 |
severe |
Purpose: To evaluate a patient with Gaucher's disease using the severity scoring index of Zimran et al.
Specialty: Genetics
Objective: severity, prognosis, stage
ICD-10: E75,
