Early and severe amyloidosis in a patient with concurrent familial Mediterranean fever and pseudoxanthoma elasticum.
A young woman patient had early and extensive familial Mediterranean fever (FMF)-related amyloidosis and pseudoxanthoma elasticum (PXE). She had the novel G1042S mutation in the ATP-binding cassette subfamily C member 6 (ABCC6) gene, responsible for PXE, and the mutation M694I in MEFV, the FMF gene. Both mutations were homozygous, in agreement with consanguinity in the parents. ABCC6 deficiency may have increased the severity of amyloidosis by increasing the deposition in target tissues of heparan sulphate, which colocalizes spatially and temporally with amyloid proteins, and/or by decreasing the therapeutic activity of colchicine.
Cattan
D
D
Department of Hepatogastroenterology, Centre Hospitalier, 94195 Villeneuve-Saint-Georges, France.
Bouali
B
B
Chassaing
N
N
Martinez
F
F
Dupont
J M
JM
Dode
C
C
Martin
L
L
D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D000328:Adult; D000595:Amino Acid Sequence; D000686:Amyloidosis / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D010505:Familial Mediterranean Fever / Q000150:complications* / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D027425:ATP-Binding Cassette, Sub-Family C Proteins / Q000235:genetics; D009154:Mutation; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000235:genetics / Q000473:pathology; D016415:Sequence Alignment
D018528:ATP-Binding Cassette Transporters; D027425:ATP-Binding Cassette, Sub-Family C Proteins; C102029:ABCC6 protein, human