Whybra et al developed the Mainz Severity Score Index (MSSI) for evaluating patients with Fabry disease. This can be used to monitor the response to enzyme replacement therapy. The authors are from the University of Mainz, University of Hamburg and the NIH.
Scores:
(1) general
(2) neurological
(3) cardiovascular
(4) renal
Parameters for general score:
(1) characteristic facial appearance
(2) angiokeratoma
(3) edema
(4) musculoskeletal
(5) cornea verticillata
(6) diaphoresis
(7) abdominal pain
(8) diarrhea or constipation
(9) hemorrhoids
(10) pulmonary
(11) New York Heart Association (NYHA) class
Parameters for neurological score:
(1) tinnitus
(2) vertigo
(3) acroparesthesias
(4) fever pain crisis
(5) cerebrovascular
(6) depression
(7) fatigue
(8) reduced activity level
Parameters for cardiovascular score:
(1) changes in cardiac muscle thickness
(2) valve insufficiency
(3) ECG abnormalities
(4) pacemaker
(5) hypertension
Parameters for renal score:
(1) evidence of renal dysfunction
|
Parameter |
Finding |
Points |
|---|---|---|
|
characteristic facial appearance |
no |
0 |
|
|
yes |
1 |
|
angiokeratoma |
no |
0 |
|
|
some |
1 |
|
|
extensive |
2 |
|
edema |
no |
0 |
|
|
yes |
1 |
|
musculoskeletal |
no |
0 |
|
|
yes |
1 |
|
cornea verticillata |
no |
0 |
|
|
yes |
1 |
|
diaphoresis |
normal |
0 |
|
|
hypo or hyper |
1 |
|
|
anhidrosis |
2 |
|
abdominal pain |
no |
0 |
|
|
yes |
2 |
|
diarrhea or constipation |
no |
0 |
|
|
yes |
1 |
|
hemorrhoids |
no |
0 |
|
|
yes |
1 |
|
pulmonary |
no |
0 |
|
|
yes |
2 |
|
NYHA class |
none |
0 |
|
|
Class I |
1 |
|
|
Class II |
2 |
|
|
Class III |
3 |
|
|
Class IV |
4 |
|
tinnitus |
no |
0 |
|
|
mild |
1 |
|
|
severe |
2 |
|
vertigo |
no |
0 |
|
|
mild |
1 |
|
|
severe |
2 |
|
acroparesthesia |
no |
0 |
|
|
occasional |
3 |
|
|
chronic |
6 |
|
fever pain crisis |
no |
0 |
|
|
yes |
2 |
|
cerebrovascular |
no |
0 |
|
|
ischemic lesions on CT or MRI |
1 |
|
|
TIA or migraine |
3 |
|
|
stroke |
5 |
|
depression |
no |
0 |
|
|
yes |
1 |
|
fatigue |
no |
0 |
|
|
yes |
1 |
|
reduced activity level |
no |
0 |
|
|
yes |
1 |
|
changes in cardiac muscle thickness |
no |
0 |
|
|
thickening of wall or septum |
1 |
|
|
LVH in ECG |
6 |
|
|
cardiomyopathy < 15 mm |
8 |
|
|
severe cardiomyopathy >= 15 mm |
12 |
|
valve insufficiency |
no |
0 |
|
|
yes |
1 |
|
ECG abnormalities |
no |
0 |
|
|
yes |
2 |
|
pacemaker |
no |
0 |
|
|
yes |
4 |
|
hypertension |
no |
0 |
|
|
yes |
1 |
|
renal dysfunction |
no |
0 |
|
|
proteinuria |
4 |
|
|
tubular dysfunction or low GFR |
8 |
|
|
end-stage renal failure (serum creatinine > 3.5 mg/dL) |
12 |
|
|
dialysis |
18 |
Interpretation:
• minimum subscore: 0
• maximum general score: 18
• maximum neurological score: 20
• maximum cardiovascular score: 20
• maximum renal score: 18
• total score: 76
Specialty: Genetics
ICD-10: ,
