Hereditary hemorrhagic telangiectasia versus CREST syndrome: can serology aid diagnosis?
Because the telangiectasia of hereditary hemorrhagic telangiectasia (HHT) and the CREST variant of scleroderma may be indistinguishable, we have tested the sera of eight patients with HHT for the presence of antinuclear (ANA) and anticentromere antibodies (ACA). In contrast to patients with the CREST syndrome, none of the sera of patients with HHT had elevated levels of ANA and a search for ACA was negative. Therefore, the presence of ACA may help differentiate the patient with CREST from the patient with HHT.
D000328:Adult; D000974:Antibodies, Antinuclear / Q000032:analysis*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D012595:Scleroderma, Systemic / Q000175:diagnosis* / Q000235:genetics; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000175:diagnosis* / Q000235:genetics
D000974:Antibodies, Antinuclear