Ebana et al reported a clinical score to help to identify a patient with Birt-Hogg-Dube syndrome (BHDS). The authors are from Juntendo University, Nissan Tamagawa Hospital (Tokyo) and the Study Group for Pneumothorax and Cystic Lung Diseases in Japan.
Gene affected: FLCN (17p11.2)
Parameters:
(1) familial history of pneumothorax
(2) history of bilateral pneumothorax
(3) age at first episode of pneumothorax
(4) sex
(5) body mass index in kg per square meter
Parameter
Finding
Points
family history
no
0
yes
3
history of bilateral pneumothorax
no
0
yes
3
age at first episode
< 25 years
0
>= 25 years
2
sex
male
0
female
2
BMI
< 18.5
0
>= 18.5
1
total score =
= SUM(points for all of the parameters)
Interpretation:
• minimum score: 0
• maximum score: 11
• A score >- 4 had a sensitivity of 93% and specificity of 86%.
Performance:
• The area under the ROC curve is 0.953.
• Xing et al made recommendations related to patient selection and genetic testing.
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