26/12/2023
This eighth bibliography session on AA amyloidosis summarizes two recently published articles on AA amyloidosis:
The first article: Symptomatic infection with SARS-CoV2 is associated with high mortality in AA amyloidosis.
The second article: Gout with associated cutaneous AA amyloidosis: A case report and review of the literature.
Gout with associated AA cutaneous amyloidosis: A case report and review of the literature
First author: Orchard G. E.
Journal : Br J Biomed Sci
Reference : DOI : 10.3389/bjbs.2023.11442
Link to article: Lien vers l’article : https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10293613/
Introduction
AA amyloidosis, a disease associated with fibrillar deposits of serum amyloid A protein, complicates chronic inflammatory diseases. Although sickle cell anaemia is a chronic inflammatory disease, it is very rarely associated with AA amyloidosis, with only a few cases reported in the literature.
L'infection symptomatique par le SRAS
CoV2 is associated with, mortality in AA amyloidosis
First author : Bourguiba R
Journal : Amyloid
Reference: DOI : 10.1080/13506129.2023.2294434
Link to the article: Lien vers l’article : https://pubmed.ncbi.nlm.nih.gov/38126733/
Introduction
A Dutch team has reported 2 cases of AA amyloidosis in a father and daughter with PAMI syndrome, an acronym for PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
24/11/2023
This seventh bibliography session on AA amyloidosis summarizes two recently published articles on novel/rare causes of chronic inflammation that can lead to AA amyloidosis:
The first article from an American team reports the case of a 43-year-old woman with sickle cell disease who developed AA amyloidosis.
The second article, from a Dutch team, reports the case of 2 patients (a father and daughter) in whom AA amyloidosis led to the discovery of a rare genetic autoinflammatory disease, PAMI syndrome, associated with a mutation in the PSTPiP1 gene.
Renal Amyloid-Associated (AA) Amyloidosis in a
Sickle Cell Patient: A Case Report and Literature
Review
First author: Tsering Dolkar
Journal : Cureus
Reference : DOI : 10.7759/cureus.36608
Link to article: https://www.cureus.com/articles/140702-renal-amyloid-associated-aa-amyloidosis-in-a-sickle-cell-patient-a-case-report-and-literature-review
Introduction
AA amyloidosis, a disease associated with fibrillar deposits of serum amyloid A protein, complicates chronic inflammatory diseases. Although sickle cell anaemia is a chronic inflammatory disease, it is very rarely associated with AA amyloidosis, with only a few cases reported in the literature.
AA amyloidosis in a father and daughter as
complication of PSTPIP1-associated myeloidrelated proteinemia inflammatory (PAMI)
syndrome
First author : Brunger A
Journal : Amyloid
Reference: Amyloid. 2023 Oct 23:1-3. Online ahead of print
Link to the article: https://doi.org/10.1080/13506129.2023.2272556
Link to pubmed:
Introduction
A Dutch team has reported 2 cases of AA amyloidosis in a father and daughter with PAMI syndrome, an acronym for PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome.
30/10/2023
This sixth bibliography session on AA amyloidosis summarizes two articles published in recent months.
The first article: Renal transplantation in patients with AA amyloidosis: Results of a French multicenter cohort of 86 patients.
The second article: Characteristics and evolution of patients with AA amyloidosis: single-center experience with 174 patients in Turkey.
Renal transplantation in patients with AA amyloidosis: Results of a
multicenter cohort of 86 patients
Premier auteur : Schwarz C
Revue : American Journal of Kidney diseases (Am J Kidney Dis)
Référence : Transplantation rénale chez les patients atteints d'amylose AA : Outcomes in a French Multicenter Cohort. Schwarz C, et al. Am J Kidney Dis. 2023 Sep 21:S0272-6386(23)00834-X. doi : 10.1053/j.ajkd.2023.07.020. En ligne avant l'impression. PMID : 37741608
Link to pubmed:
AA amyloidosis is a rare and serious disease. Renal involvement is very common, and can lead to end-stage renal failure. Because of involvement of other organs, these patients are often frail, which may raise concerns about their suitability for renal transplantation. Indeed, the outcomes of renal transplantation in patients with AA renal amyloidosis are poorly understood to date, with data reporting poor survival and high rates of recurrence of amyloidosis on the renal graft. However, these data are inconclusive and are mainly based on studies dating from the early 2000s or earlier.
Characteristics and course of patients with AA amyloidosis: single-center experience with 174 patients in Turkey
Authors : Murat Bektas
Journal: Rheumatology
Reference: Bektas M, et al. Characteristics and course of patients with AA Amyloidosis: single center experience with 174 patients from Turkey. Rheumatology (Oxford). 2023 Sep 20:kead465. doi: 10.1093/rheumatology/kead465. Epub ahead of print. PMID: 37738242.
Link to pubmed:
Inflammatory amyloidosis (AA) is a rare and severe complication of chronic inflammatory conditions. It is linked to the deposition of the serum protein amyloid A (SAA). Familial Mediterranean fever (FMF) is the most common autoinflammatory disease in the world. It is associated with mutations in the MEFV gene; the M694V, M680I and V726A variants in exon 10 are the most common pathogenic variants. The presence of the homozygous M694V mutation is associated with the most severe form of the disease, with a higher risk of AA amyloidosis already reported in the literature. The presence of a pathogenic mutation in the heterozygous state is generally associated with a less severe disease phenotype. The prevalence of AA amyloidosis in FMF was initially estimated at 20-30%, but treatment with colchicine, introduced in 1972, has reduced the occurrence of AA amyloidosis. The aim of this study was to evaluate the clinical, biological and genetic characteristics and evolution of a cohort of patients with AA amyloidosis in Turkey.
30/09/2023
This fifth bibliography session on AA amyloidosis summarizes two articles published in recent months
The first article: Type AA amyloidosis associated with lymphoma: study of 19 cases, including 5 new French cases, and systematic review of the literature.
The second article: A case of systemic AA amyloidosis secondary to xanthogranulomatous pyelonephritis.
Type AA amyloidosis associated with lymphoma: study of 19 cases including 5 new French cases and systematic review of the literature
Authors: Aurore Collet et al
Journal: Leukemia et lymphoma (2023)
Reference: AA-type amyloidosis associated with lymphoma: a study of 19 cases including 5 new French cases and a systematic literature review, Leukemia & Lymphoma
Link to pubmed:
In cases of amyloidosis complicating lymphoma, the AL type of amyloidosis (AL), caused by the production of monoclonal immunoglobulin, is more common. The first cases were described in 1966 as a complication of Waldenström's macroglobulinemia, followed less frequently by other subtypes of non-Hodgkin's lymphoma (NHL). However, some cases of inflammatory lymphoma can lead to the formation of AA amyloidosis (AAA) in cases of chronic inflammation.
A systematic review had identified Hodgkin's lymphoma (HL) and NHL as associated with AAA, and lymphoma is now recognized as a rare but possible cause of AAA. However, little is known about the characteristics of this association and its prognosis. The aim of this study was to provide a summary of the main features of the association between AAA and lymphoma, by describing all French cases and carrying out a systematic review of the literature.
Un cas d'amylose systémique A secondaire à une pyélonéphrite xanthogranulomateuse
Auteurs : Masato Habuka
Revue : Internal Medicine, The Japanese society of internal medicine.
Référence : Cas d'amylose systémique A secondaire à une pyélonéphrite xanthogranulomateuse. Intern Med. 2023 Jul 5. doi : 10.2169/internalmedicine.1806-23. Epub
Link to pubmed:
Xanthogranulomatous pyelonephritis (XGP) is a rare form of chronic pyelonephritis characterized by the formation of inflammatory renal masses rich in lipid-laden macrophages. The association between PXG and AA amyloidosis is uncommon. This article reports a case of AA amyloidosis secondary to PXG and provides a review of the literature on the subject.
15/08/2023
This fourth bibliography session on AA amyloidosis summarises two articles published in recent months
The first article, by a Brazilian team, reports on cases of systemic amyloidosis in Sao Paulo, Brazil, including 12 cases of AA amyloidosis of various causes. It shows that in this variety of cases, patients are diagnosed at a young age, but the diagnosis remains elusive for a long time.
The second article is a fatal clinical case of a 63-year-old man with AA amyloidosis complicating hidradenitis suppurativa. It suggests systematic screening by BU of patients with HS to detect AA amyloidosis as early as possible.
Systemic amyloidosis from diagnosis to progression: twelve years' real-life experience from a single centre in a middle-income country, Brazil
Authors: Roberta Shcolnik Szor et al
Country: Brazil (Sao Paulo)
Journal: Orphanet Journal of Rare Diseases (2022)
Reference: Orphanet J Rare Dis 17, 425 (2022)
Link to pubmed:
Systemic amyloidosis is caused by the deposition of misfolded proteins in tissues,
leading to progressive dysfunction of various organs. Epidemiological studies are mainly from high-income countries, with little data from Latin America. Because of its non-specific clinical manifestations, amyloidosis is often difficult to diagnose, and patients are faced with a long and delayed diagnosis. The aim of this study was to evaluate the clinical and biological characteristics, diagnostic pathway and outcomes of patients with histologically proven systemic amyloidosis.
Systemic AA amyloidosis complicating hidradenitis suppurativa: Should patients be routinely screened?
Authors: Julie Mac Mahon et al
Country: Ireland
Journal: European Academy of Dermatology and Venereology (2022)
Reference: J Eur Acad Dermatol Venereol. 2023 May;37(5):e600-e60
Link to pubmed:
The author is an Irish dermatologist who reports the observation of a patient treated for hidradenitis suppurativa (HS) complicated by inflammatory amyloidosis (AA): this was a 61-year-old man who had been treated for Hurley stage 3 HS for 30 years. He had been admitted for acute renal failure (ARF) with a uraemia of 24.5 mmol/L (normal = 1.8-7.1 mmol/L) and creatininaemia of 624 μmol/L (74-107 μmol/L)].
This third bibliography session on AA amyloidosis summarizes two articles published in recent months by a Portuguese team on AA amyloidosis complicating Variable Common Immune Deficiency, and another Turkish team on the fate of FMF kidney transplant patients.
Long-term prognosis of renal transplantation in patients with familial Mediterranean fever
Authors: Berivan Bitik et al
Journal: Clinical transplantation (2022)
Reference: Bitik B, Hatipog˘ lu B, Sayın B, et al. Long-term results of kidney transplantation in patients with familial mediterranean fever. Clin Transplant. 2023;37:e14888. https://doi.org/10.1111/ctr.14888
The long-term results of renal transplantation (RT) in patients with amyloidosis related to Familial Mediterranean Fever (FMF) are not well studied.
A Turkish team from Ankara studied the long-term survival of patients with Familial Mediterranean Fever (FMF) who underwent RT.
AA amyloidosis and variable common immunodeficiency: A rare association!
Authors: Joana Lopes et al
Journal: Cureus (2022)
Reference: Cureus. 2022 Nov 28;14(11):e31976
Common variable immunodeficiency (CVID) is a disease characterized by severe antibody deficiency due to impaired B-cell differentiation, resulting in hypogammaglobulinemia.
It is the most common form of severe antibody deficiency, with age at diagnosis between the third and fifth decades of life, and late diagnosis is frequent.
The authors report the case of a young woman with a history of CVID treated with intravenous immunoglobulin (IVIg) for 15 years, who developed inflammatory renal amyloidosis (AA-amyloidosis).
This first literature review on AA amyloidosis summarizes two articles published in the last months by 2 nephrology teams, one in Algeria and one in Portugal.
It underlines the diversity of the etiologies of AA amyloidosis :
- the Algerian cohort is made up of 58 patients with familial Mediterranean fever (FMF)
-and the Portuguese cohort of 69 patients with mainly infections and no FMF.
It also shows the renal severity of this disease with recourse to hemodialysis and underlines its seriousness with an important mortality in young subjects.
These two publications point out the necessity of an early diagnosis of AA amyloidosis in order to set up an etiological treatment of the underlying chronic inflammation. They show the importance of teaching this rare disease in order to better manage affected patients worldwide.
AA amyloidosis of unknown aetiology: response to treatment with interleukin-1 inhibitors
Authors : Ufuk Ilgen and al
Journal: Clinical kidney Journal
Reference: Clin Kidney J. 2023 Jan 5;16(6):1038-1042
AA amyloidosis of undetermined cause accounts for 6-19% of AA amyloidosis cases. The frequency of AA amyloidosis with no known cause has increased, and even exceeds that of AA amyloidosis secondary to rheumatoid arthritis, one of the most common causes in Western countries. There is no standard treatment for AA amyloidosis of unknown etiology.
In view of their efficacy in AA amyloidosis caused by rheumatic diseases, two cytokine inhibitors, anti-interleukin 1 and anti-interleukin 6 respectively, Anakinra and Tocilizumab, have already been tested in this indication.
Anakinra, an interleukin-1 (IL-1) receptor antagonist, proved effective and well tolerated in a small cohort of 11 patients. No data were available for other cytokine inhibitors, including Canakinumab, in a human case series.
Efficacy and safety of interleukin-1 blockers in kidney transplant recipients with familial Mediterranean fever: a propensity score-matched cohort study
First author : Mirioglu S and al
Journal: Nephrology Dialysis and Transplantation
Reference: Nephrol Dial Transplant. 2023 May 4;38(5):1327-1336
Data on the use of anti-interleukin (IL)-1 biotherapies in patients with familial Mediterranean fever (FMF) undergoing kidney transplantation for end-stage renal failure due to inflammatory amyloidosis (AA amyloidosis) are very limited.
The authors are Turkish and sought to evaluate the efficacy and safety of two anti-IL-1 biotherapies: anakinra and canakinumab in the renal transplantation of FMF patients.
This first literature review on AA amyloidosis summarizes two articles published in the last months by 2 nephrology teams, one in Algeria and one in Portugal.
It underlines the diversity of the etiologies of AA amyloidosis :
- the Algerian cohort is made up of 58 patients with familial Mediterranean fever (FMF)
-and the Portuguese cohort of 69 patients with mainly infections and no FMF.
It also shows the renal severity of this disease with recourse to hemodialysis and underlines its seriousness with an important mortality in young subjects.
These two publications point out the necessity of an early diagnosis of AA amyloidosis in order to set up an etiological treatment of the underlying chronic inflammation. They show the importance of teaching this rare disease in order to better manage affected patients worldwide.
AA amyloidosis secondary to Familial Mediterranean Fever in Algeria: about 58 cases.
Authors: G Khellaf, A Benziane, L Kaci, D Ait-Idir, S Missoum and M Benabadji.
Published in Clinical Nephrology in 2023
The authors' objectives were to describe 58 patients with inflammatory amyloidosis (AA Amyloidosis) secondary to familial Mediterranean fever (FMF) prospectively in the nephrology department of a university hospital in Algiers from January 2012 to January 2021.
The diagnosis of nephropathy was suspected clinically and biologically and confirmed histologically. All patients had had sanger sequencing of exons 2 and 10 of the MEFV gene.
The 58 patients included 30 men and 28 women, with a mean age of 31.68 years. Three (5.17%) patients were on chronic dialysis and 55 (94.82%) were referred to nephrology for renal biopsy, with symptoms including nephrotic syndrome in 50 (94.73%) cases, associated with nephrotic syndrome in 55 (94.73%) cases.
Description de 69 cas d’amylose AA au Portugal.
Authors: C Oliveira-Silva, N Marques, A Pinhob, R Poínhos, R Bergantim, A-T Nunes, S Sampaio, P Rodrigues-Pereira, R Silva, A Praça, J Frazão, M Pestana, I Tavares.
University of Porto and Sao Joao Hospital Nephrology Department, Porto, Portugal
Article published in the English magazine Nephron 2023;147:158-169
The epidemiology and outcomes of the most common amyloidosis subtypes were not known in Portugal apart from the mutated TTR form.
The authors retrospectively analyzed patients with biopsy-proven renal amyloidosis diagnosed between January 1978 and December 2019.
Of 123 patients with amyloid nephropathy, 111 had amyloid deposition typing.
AA amyloidosis was the most frequent type (n=69; 56.1%). AL amyloidosis was present in 25.2% of patients and mutated TTR amyloidosis in 6.5%. There was no significant difference between AA and AL amyloidosis in terms of renal involvement and survival on dialysis.
Cardiac involvement and estimated glomerular filtration rate <30
ml/min/1.73 m2 independently influenced survival in AA and AL amyloidosis.
