Familial Mediterranean fever and hyperimmunoglobulinemia D syndrome: two diseases with distinct clinical, serologic, and genetic features.
OBJECTIVE
To determine whether the 2 periodic febrile syndromes familial Mediterranean fever (FMF) and hyperimmunoglobulinemia D syndrome (HIDS) are distinct diseases.


METHODS
Clinical manifestations of the diseases were analyzed by physicians experienced with FMF and HIDS. Serum immunoglobulin (Ig) levels were studied in 70 patients with FMF using nephelometry or ELISA and compared with Ig levels in 50 patients with HIDS. Genetic linkage of HIDS with the chromosome 16 polymorphic locus RT70, currently used for refined localization of the FMF susceptibility gene (MEFV), was studied in 9 HIDS families (18 patients) using polymerase chain reaction amplification and gel electrophoresis.


RESULTS
The main clinical features distinguishing FMF from HIDS were lymphadenectomy, skin eruption, and symmetrical oligoarthritis in HIDS, and monoarthritis, peritonitis, and pleuritis in FMF. Increased IgG levels were found in 12 patients with FMF (17%), IgA in 16 (23%), IgM in 9 (13%), and IgD in 9 (13%), significantly lower than the prevalence reported for HIDS. We found no evidence for genetic linkage between HIDS and the chromosome 16 marker RT70.


CONCLUSIONS
HIDS and FMF are different entities, clinically, immunologically, and genetically.
Livneh
A
A
Heller Institute of Medical Research, Sheba Medical Center, Tel-Hashomer, Israel.
Drenth
J P
JP
Klasen
I S
IS
Langevitz
P
P
George
J
J
Shelton
D A
DA
Gumucio
D L
DL
Pras
E
E
Kastner
D L
DL
Pras
M
M
van der Meer
J W
JW
D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D003937:Diagnosis, Differential; D004797:Enzyme-Linked Immunosorbent Assay; D010505:Familial Mediterranean Fever / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D006942:Hypergammaglobulinemia / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D007072:Immunoglobulin D / Q000097:blood; D008297:Male; D016133:Polymerase Chain Reaction; D013577:Syndrome
D017931:DNA Primers; D007072:Immunoglobulin D