Description

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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