Serum amyloid A serum concentrations and genotype do not explain low incidence of amyloidosis in Hyper-IgD syndrome

Background. Hyper-IgD and periodic fever syndrome (HIDS) is an autosomal recessively inherited disorder characterized by recurrent episodes of fever and inflammation. Unlike other chronic inflammatory conditions, amyloidosis is very rare in HIDS. For deposition of amyloid of the AA type, high concen...

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Bibliographic Details
Published in:Amyloid 2005-06, Vol.12 (2), p.115-119
Main Authors: van der Hilst, JCH, Drenth, JPH, Bodar, EJ, Bijzet, J, van der Meer, JWM, Simon, A
Format: Article
Language:English
Subjects:
amyloidosis
Amyloidosis - blood
Amyloidosis - genetics
Cohort Studies
Familial Mediterranean Fever - blood
Familial Mediterranean Fever - genetics
Genotype
Humans
Hyper-IgD syndrome
Immunoglobulin D - blood
Incidence
Periodic fever
SAA1 genotype
serum amyloid A
Serum Amyloid A Protein - genetics
Serum Amyloid A Protein - metabolism
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Summary:Background. Hyper-IgD and periodic fever syndrome (HIDS) is an autosomal recessively inherited disorder characterized by recurrent episodes of fever and inflammation. Unlike other chronic inflammatory conditions, amyloidosis is very rare in HIDS. For deposition of amyloid of the AA type, high concentrations of SAA are a prerequisite, together with certain SAA1 gene polymorphisms. The SAA1.1 genotype predisposes for amyloidosis, while SAA1.5 genotype exerts a protective effect. Aim of the study. To determine if SAA concentrations and SAA1 gene polymorphisms could explain the virtual absence of amyloidosis in HIDS patients. Methods. We measured SAA and CRP concentrations in serum of 20 HIDS patients during an attack and during the asymptomatic phase. Genotype of SAA1 gene was determined in 60 HIDS patients. Results. SAA serum concentrations during attacks were very high (median 205 mg/l; range 75-520 mg/l, normal < 3.1 mg/l). During attack-free periods 45% of patients still had elevated SAA concentrations. The distribution of the genotype of SAA1 gene in HIDS was similar to healthy controls (SAA1.1 0.41 vs. 0.50 p = 0.32). Conclusion. Patients with HIDS have high SAA during attacks and show sub-clinical inflammation when asymptomatic. The low incidence of amyloidosis cannot be explained by a predominance of non amyloidogenic SAA related genotypes.
ISSN:1350-6129
1744-2818
DOI:10.1080/13506120500106982