Landemaine et al reported a simple clinical score that can screen patients for ferroportin disease. This can help to identify a patient who may or may not require genetic testing for diagnosis. The authors are from multiple institutions in France.
Parameters:
(1) sex
(2) age of the patient in years
(3) hypertension
(4) diabetes
(5) liver iron concentration in µmol/g
(6) serum ferritin level in µg/L
Parameter
Finding
Points
sex
male
0
female
2.5
age of the patient
<= 40 years
5
41 to 70 years
3
> 70 years
0
comorbidity
hypertension
3
diabetes
3
both
3
neither
0
liver iron
<= 96 µmol/g
0
97 to 160 µmol/g
1.5
161 to 200 µmol/g
3
> 200 µmol/g
4
serum ferritin
<= 700 µg/L
0
701 to 1,000 µg/L
1.5
1,001 to 1,500 µg/L
2.5
> 1,500 µg/L
6
total score =
= SUM(points for all of the parameters)
Interpretation:
• minimum score: 0
• maximum score: 20.5
• A patient with a score < 9.5 does not require genetic testing.
• A patient with a score >= 9.5 should be considered for genetic testing to identify a possible genetic defect.
Performance:
• The area under the ROC curve is 0.77.
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