Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0039483 (
giant cell arteritis
)
3,204
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The combination of
alpha-1 antitrypsin
(
AAT
) deficiency, ANCA-vasculitis, and aortic aneurysm has been rarely described in literature. We report an eventually fatal case in a 70-year-old patient who initially presented with
giant cell arteritis
and ANCA associated glomerulonephritis. Several years later, he presented with aortic dissection due to large vessel vasculitis, raising the suspicion of AAT deficiency, as two first-line relatives had chronic obstructive pulmonary disease, while they never smoked. This diagnosis was confirmed by
AAT
electrophoresis and immunohistochemistry on a temporal artery biopsy. Considering AAT deficiency in these cases might lead to a more timely diagnosis.
...
PMID:Alpha-1 Antitrypsin Deficiency Presenting with MPO-ANCA Associated Vasculitis and Aortic Dissection. 2836 19
