Mevalonate Kinase Deficiency (MKD) is one of the autoinflammatory periodic fevers and is associated with the Hyper-IgD Syndrome. The Eurofever Project and PRINTO developed a score for identifying affected patients.
Patient selection: periodic fever
Parameters:
(1) age at onset
(2) aphthous stomatitis
(3) generalized lymphadenopathy and/or splenomegaly
(4) painful lymph nodes
(5) diarrhea
(6) chest pain
Parameter
Finding
Points
age at onset
< 2 years of age
10
>= 2 years of age
0
aphthous stomatitis
yes
11
no
lymphadenopathy and/or splenomegaly
8
painful lymph nodes
13
diarrhea
none or infrequent
sometimes or often
20
always
37
chest pain
total score =
= SUM(points for all 6 parameters)
Interpretation:
• minimum score: 0
• maximum score: 90
• A score >= 42 indicates a patient who may have MKD.
Performance:
• The area under the ROC curve was 0.95.
• The sensitivity ranges from 89 to 93% and specificity ranges from 89 to 92% (training and validation series).
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Specialty: Immunology/Rheumatology, Genetics, Infectious Diseases, Pedatrics
