Dr. Lachmann has received consulting fees, speaking fees, and/or honoraria from Novartis and Sobi (less than $10,000 each).
Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes
Article first published online: 28 MAR 2013
Copyright © 2013 by the American College of Rheumatology
Arthritis & Rheumatism
Volume 65, Issue 4, pages 1116–1121, April 2013
How to Cite
Lane, T., Loeffler, J. M., Rowczenio, D. M., Gilbertson, J. A., Bybee, A., Russell, T. L., Gillmore, J. D., Wechalekar, A. D., Hawkins, P. N. and Lachmann, H. J. (2013), Brief Report: AA Amyloidosis Complicating the Hereditary Periodic Fever Syndromes. Arthritis & Rheumatism, 65: 1116–1121. doi: 10.1002/art.37827
- Issue published online: 28 MAR 2013
- Article first published online: 28 MAR 2013
- Accepted manuscript online: 26 DEC 2012 02:35PM EST
- Manuscript Accepted: 7 DEC 2012
- Manuscript Received: 10 AUG 2012
AA amyloidosis is a life-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise often compatible with normal life expectancy. This study was undertaken to determine the characteristics, presentation, natural history, and response to treatment in 46 patients who had been referred for evaluation at the UK National Amyloidosis Centre.
Disease activity was monitored by serial measurement of serum amyloid A. Renal function was assessed by measurement of serum creatinine and albumin levels, the estimated glomerular filtration rate, and proteinuria from 24-hour urine collections. The amyloid load was measured by serum amyloid P scintigraphy.
Twenty-four patients had familial Mediterranean fever, 12 patients had tumor necrosis factor receptor–associated periodic syndrome, 6 patients had cryopyrin-associated periodic syndromes, and 4 patients had mevalonate kinase deficiency. The median age at onset of HPFS was 5 years; median age at presentation with AA amyloidosis was 38 years. Diagnosis of an HPFS had not been considered prior to presentation with AA amyloidosis in 23 patients (50%). Eleven patients (24%) had end-stage renal failure (ESRF) at presentation; of these, 3 had received transplants prior to referral. A further 13 patients developed ESRF over the followup period, with 10 undergoing renal transplantation. The median time to progression to ESRF from onset of AA amyloidosis was 3.3 years (interquartile range [IQR] 2–8), with a median time to transplant of 4 years (IQR 3–6). Eleven patients (24%) died. The median survival in the entire cohort was 19 years from diagnosis of AA amyloidosis. Of the 37 patients who were treated successfully, or in whom at least partial suppression of the underlying HPFS was achieved, 17 (46%) showed amyloid regression, 14 (38%) showed a stable amyloid load, and 2 (5%) showed increased amyloid deposition over the followup period.
AA amyloidosis remains a challenging and serious late complication of HPFS; however, outcomes are excellent when HPFS is diagnosed early enough to allow effective treatment, thus preventing or retarding further amyloid deposition and organ damage.