Fibrinogen Amyloidosis Resources

(Last updated June 29, 2016)

This page is intended to be a one-stop shopping location for anyone trying to learn about fibrinogen amyloidosis on the internet. It is currently divided into three sections:


  1. Journal Articles (and abstracts) Related to Fibrinogen Amyloidosis
  2. Internet Resources Related to Fibrinogen Amyloidosis
  3. General Information about Amyloidosis on the Internet


Journal Articles Related to Fibrinogen Amyloidosis


This section contains some basic information on the medical journal articles I am aware of that deal specifically with fibrinogen amyloidosis in some way. (There are also a few papers and abstracts presented at conferences.) Items are listed in chronological order, with the most recently published articles on top. In February of 2013 I began reviewing these articles in the blog, starting with the oldest articles. For the articles below that I have reviewed, the entry will indicate when it was reviewed.

As of December of 2013 I am working from a list of 61 items, with 50 of them listed here so far. I currently have obtained electronic copies of about half of these articles, which I have uploaded to "the cloud" in two different locations (Dropbox and Google Drive). No login is required to view or download these articles from either site. Here are the links:

https://www.dropbox.com/sh/1pll6yyu81npzgq/S4K-uBoXwS

https://docs.google.com/folder/d/0B7SwyhBPmCjoLWx1T2wyX0pKN2c/edit

(The format of the file names is YYYY-MM (initials or name of journal).pdf, where YYYY and MM are the year and month of publication.)


Since there are so many articles listed here I'm sure it can seem overwhelming to someone just starting to learn about fibrinogen amyloidosis. Most people initially want to learn about treatment options, here is a list of four articles covering that aspect.


Treatment Options

2000 May
Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family

2009 February
2010 April
Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation

2012 June
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses

2016 May
Liver transplant alone without kidney transplant for fibrinogen A alpha-chain (AFib) renal amyloidosis

I would recommend starting with these four articles and then, if you are interested, looking over the others listed below to learn about the history of this disease and how it is diagnosed, misdiagnosed and treated. It's an interesting story if you start with the oldest articles and go forward from there.

Note 1: To help people understand some of the medical terminology in these articles, I have created a glossary with simple explanations of many of the words used repeatedly in these articles. The link to this Simple Glossary is on the right side of any page of the blog.

Note 2: The most common variant of fibrinogen amyloidosis has been referred to in several different ways in these articles. Glu526Val, E526V, p.Glu526Val and Val526 can all be seen below, and those all mean the same thing. (In technical terms, the DNA has GTG (valine) instead of GAG (glutamic acid) at position 526 of the fibrinogen A alpha-chain.) The main thing to look for is "526" somewhere in the name. (I have also included some articles that cover other fibrinogen mutations known to cause amyloidosis.)


=== Full Article List ===

2016 March
Liver transplant alone without kidney transplant for fibrinogen A alpha-chain (AFib) renal amyloidosis
(Report of first liver transplant without kidney transplant for fibrinogen amyloidosis)
Link to online article:    http://www.tandfonline.com/doi/full/10.3109/13506129.2016.1153465
Citation:    Fix OK, Stock PG, Lee BK, Benson MD. Liver transplant alone without kidney transplant for fibrinogen Aα-chain (AFib) renal amyloidosis. Amyloid. 2016:1-2.
File name   Contact me for a copy.
Date reviewed in the blog: April 30, 2016

2014 April
A Familial Glomerulopathy
(From the quiz page of this journal, a case of fibrinogen amyloidosis Arg554Leu mutation.)
Link to online article:    http://www.ajkd.org/article/S0272-6386(13)01477-7/fulltext
Link to PDF:    http://download.journals.elsevierhealth.com/pdfs/journals/0272-6386/PIIS0272638613014777.pdf
File name:    2014-04 (AJKD)

2013 December
Proteome of Amyloidosis: Mayo Clinic Experience in 4139 Cases
(At Mayo Clinic since 2008, tissue biopsy evaluations determined 26 cases out of 4139 were fibrinogen amyloidosis.) (This paper was an abstract presented at the 2013 meeting of the American Society of Hematology.)
Link to online articlehttps://ash.confex.com/ash/2013/webprogram/Paper62434.html
File name
Date reviewed in the blogDecember 6, 2013

2013 September
Renal Amyloidosis: Origin and Clinicopathologic Correlations of 474 Recent Cases
(At Mayo Clinic Renal Pathology Laboratory from 2007 to 2011, 6 cases of renal amyloidosis out of 474 were determined to be fibrinogen amyloidosis.)
Link to online article: http://cjasn.asnjournals.org/content/8/9/1515.abstract
Link to PDF: http://cjasn.asnjournals.org/content/8/9/1515.full.pdf+html
Citation: Said SM, Sethi S, Valeri AM, et al. Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases. Clin J Am Soc Nephrol. 2013;8(9):1515-1523.
File name: Don't have it
Date reviewed in the blog: December 6, 2013

2013 June
Hereditary amyloidosis caused by R554L fibrinogen A alpha-chain mutation in a Spanish family and review of the literature
(Description of several cases of the R554L (Arg554Leu) mutation in one large kindred, and comparison with the Glu526Val mutation.)
Link to online article:    http://informahealthcare.com/doi/abs/10.3109/13506129.2013.781998
Citation:    Haidinger M, Werzowa J, Kain R, et al. Hereditary amyloidosis caused by R554L fibrinogen Aα-chain mutation in a Spanish family and review of the literature. Amyloid. 2013;20(2):72-79.
File name:    Contact me for a copy.

2013 May
Mass Spectrometry Based Proteomics in the Diagnosis of Kidney Disease
(Discusses advanced diagnostic techniques used on renal biopsies to diagnose kidney disease.)
Link to online article:    http://journals.lww.com/co-nephrolhypertens/Abstract/2013/05000/Mass_spectrometry_based_proteomics_in_the.5.aspx
Citation:    Sethi S, Vrana JA, Theis JD, Dogan A. Mass spectrometry based proteomics in the diagnosis of kidney disease. Curr Opin Nephrol Hypertens. 2013.
File name:    Contact me for a copy.
Date reviewed in the blog: June 30, 2016

2013 March
Fibrinogen A alpha-chain amyloidosis: report of the first case in Latin America
(Description of the first case of fibrinogen amyloidosis diagnosed in Latin America, in a 52-year-old Brazilian woman.)
Link to online article:    http://informahealthcare.com/doi/abs/10.3109/13506129.2012.763029
Citation:    Machado JR, Silva MV, Neves PD, et al. Fibrinogen A alpha-chain amyloidosis: report of the first case in Latin America.Amyloid. 2013;20(1):52-55.
File name:    Contact me for a copy.
Date reviewed in the blog: May 30, 2016

2013
 January
Delayed diagnosis of fibrinogen A alpha-chain amyloidosis after dual heart–kidney transplantation
(Report of a patient who received a heart and kidney transplant in 2005 before being diagnosed with fibrinogen amyloidosis.)
Link to online article:    http://onlinelibrary.wiley.com/doi/10.1111/tri.12002/full
Link to PDF:    http://onlinelibrary.wiley.com/doi/10.1111/tri.12002/pdf
Citation:    Legris T, Daniel L, Moal V. Delayed diagnosis of fibrinogen Aα-chain amyloidosis after dual heart-kidney transplantation. Transpl Int. 2013;26(1):e1-3.
File name:    2013-01 (TI).pdf
Date reviewed in the blog: August 31, 2015

2012 November (published online)
Renal Transplantation in Systemic Amyloidosis - Importance of Amyloid Fibril Type and Precursor Protein Abundance
(Discusses results of kidney and liver-kidney transplants in patients with amyloidosis, including 19 patients with fibrinogen amyloidosis.)
Link on online article:    http://onlinelibrary.wiley.com/doi/10.1111/j.1600-6143.2012.04326.x/abstract
Link to PDF:    http://onlinelibrary.wiley.com/doi/10.1111/j.1600-6143.2012.04326.x/pdf
Citation:    Pinney, J. H., et al (2012), Renal Transplantation in Systemic Amyloidosis—Importance of Amyloid Fibril Type and Precursor Protein Abundance. American Journal of Transplantation. doi: 10.1111/j.1600-6143.2012.04326.x
File name:    2012-11 (AJT).pdf

2012 July
Amyloid diseases of the heart: current and future therapies
(Discussion of diagnosis and treatment of all types of cardiac amyloidosis. Not much new information about fibrinogen amyloidosis.)
Link to online article:    http://qjmed.oxfordjournals.org/content/105/7/617.long
Link to PDF:    http://qjmed.oxfordjournals.org/content/105/7/617.full.pdf
Citation:    Dubrey SW, Comenzo RL. Amyloid diseases of the heart: current and future therapies. QJM. 2012;105(7):617-631.
File name:    2012-07 (QJM).pdf

2012 July
Laser microdissection and mass spectrometry–based proteomics aids the diagnosis and typing of renal amyloidosis
(Discusses advanced diagnostic techniques used on renal biopsies to type amyloidosis.)
Link to online article:    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388518/
Link to PDF:    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388518/pdf/ki2012108a.pdf
Kidney International, 2012; 82(2): 226-234
File name:    2012-07 (KI).pdf
Date reviewed in the blog: June 30, 2016

2012 June
Solid organ transplantation for non-TTR hereditary amyloidosis: report from the 1st International Workshop on the Hereditary Renal Amyloidoses
(Overview of organ transplantation for treatment of fibrinogen and apolipoprotein amyloidosis. Mentions the first case of isolated liver transplant for fibrinogen amyloidosis.)
Link to online article:    http://informahealthcare.com/doi/abs/10.3109/13506129.2012.668503
Link to PDF:    http://informahealthcare.com/doi/pdfplus/10.3109/13506129.2012.668503
Amyloid, 2012; 19(S1): 81-84
File name:    2012-06 (Amyloid)-edited.pdf
Date reviewed in the blog: July 12, 2014

2012 May
The role of liver transplantation in the hereditary amyloidoses; the UK experience
(Discussion of outcomes of combined liver and kidney transplants in the UK between 1993 and 2011, including ten for fibrinogen amyloidosis. Paper presented at the 2012 International Symposium on Amyloidosis.)
Link to PDF:   (30 MB file with all papers presented at 2012 symposium.) http://www.amyloid.nl/Files/Proceedings%20book%20Amyloid%202012%20voor%20web.pdf
File name:    2012-05-b (Symposium).pdf
Date reviewed in the blog: May 4, 2014

2012 May
Renal amyloidosis associated with a novel fibrinogen A alpha chain (AFib) mutation
(First report of a patient with the Glu526Lys mutation for fibrinogen amyloidosis. Paper presented at the 2012 International Symposium on Amyloidosis.)
Link to PDF:   (30 MB file with all papers presented at 2012 symposium.) http://www.amyloid.nl/Files/Proceedings%20book%20Amyloid%202012%20voor%20web.pdf
File name:    2012-05-a (Symposium).pdf
Date reviewed in the blog: April 26, 2014

2011 June
Long-term follow-up of patients with hereditary fibrinogen A alpha-chain amyloidosis
(Study of 25 Afib patients from the Braga district of Portugal.)
Link to online article:  http://informahealthcare.com/doi/abs/10.3109/13506129.2011.574354083
Link to PDF: ??
Amyloid, 2011: 18(1): 221-222
Date reviewed in the blog: April 29, 2014

2011 May
The Role of Liver Transplantation in Hereditary Non-Neuropathic Systemic Amyloidosis
(Very short abstract presented at a 2011 conference of digestive diseases. Discusses the results of liver/kidney transplantation in patients with fibrinogen and apolipoprotein A1 amyloidosis.)
Link to online article:    http://www.kidney-international.org/article/S0085-2538(15)54882-5/fulltext
Link to PDF:    http://www.kidney-international.org/article/S0085-2538(15)54882-5/pdf
File name:    2011-05 (GJ).pdf
Date reviewed in the blog: March 28, 2014

2011 April
The Case: Proteinuria in a patient with diabetes
(Presents the case of a patient diagnosed with diabetes three years before being diagnosed with fibrinogen amyloidosis.)
Link to online article:    http://www.kidney-international.org/article/S0085-2538(15)54882-5/fulltext
Link to PDF:    http://www.kidney-international.org/article/S0085-2538(15)54882-5/pdf
File name:    2011-04 (KI).pdf
Date reviewed in the blog: March 31, 2016

2010 August
Recurrence of Amyloidosis in a Kidney Transplant
(Case study of fibrinogen amyloidosis affecting a transplanted kidney)
Link to online article:    http://www.ajkd.org/article/S0272-6386(09)01594-7/fulltext
Citation:    Sethi S, Fervenza FC, Miller D, Norby S, Leung N. Recurrence of Amyloidosis in a Kidney Transplant. Am J Kidney Dis 2010; 56: 394-398.
File name:    Contact me for a copy.
Date reviewed in the blog: March 21, 2014

2010 May
Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization and the role of liver transplantation
(Author's response to letter to the editor about April 2010 article.)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/115/21/4314.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/115/21/4314.full.pdf
Citation:    Gillmore JD, Lachmann HJ, Wechalekar A, Hawkins PN. Hereditary fibrinogen A alpha-chain amyloidosis: clinical phenotype and role of liver transplantation. Blood 2010; 115: 4313; author reply 4-5.
File name:    2010-05-b (Blood).pdf
Date reviewed in the blog: March 14, 2014

2010 May
Hereditary fibrinogen A alpha-chain amyloidosis: clinical phenotype and role of liver transplantation
(Letter to the editor about April 2010 article.)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/115/21/4313.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/115/21/4313.full.pdf
Citation:    Gillmore JD, Lachmann HJ, Wechalekar A, Hawkins PN. Hereditary fibrinogen A alpha-chain amyloidosis: clinical phenotype and role of liver transplantation. Blood 2010; 115: 4313; author reply 4-5.
File name:    2010-05-a (Blood).pdf
Date reviewed in the blog: March 14, 2014

2010 April
Fibrinogen amyloidosis: the clot thickens!
(Commentary on article below, in the same issue of Blood.)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/115/15/2985.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/115/15/2985.full.pdf
Citation:    Picken MM. Fibrinogen amyloidosis: the clot thickens! Blood. 2010;115(15):2985-2986.
File name:    2010-04-b (Blood).pdf
Date reviewed in the blog: February 28, 2014

2010 April

Hereditary fibrinogen A alpha-chain amyloidosis: phenotypic characterization of a systemic disease and the role of liver transplantation
(Study of 22 patients with fibrinogen amyloidosis)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/115/15/2998.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/115/15/2998.full.pdf
Citation:    Stangou AJ, Banner NR, Hendry BM, et al. Hereditary fibrinogen A alpha-chain amyloidosis: Phenotypic characterization of a systemic disease and the role of liver transplantation. Blood 2010; 115: 2998-3007.
File name:    2010-04-a (Blood).pdf
Date reviewed in the blog: February 21, 2014

2010 April
New-Onset Proteinuria With Massive Amorphous Glomerular Deposits
(Two kidney biopsy teaching cases in which the patients were diagnosed with fibrinogen amyloidosis)
Link to online article:    http://www.ajkd.org/article/S0272-6386(09)00858-0/fulltext
Citation: D. V. Miller, A. Dogan, and S. Sethi, "New-Onset Proteinuria With Massive Amorphous Glomerular Deposits," American journal of kidney diseases : the official journal of the National Kidney Foundation, vol. 55, pp. 749-754, 2010.
File name:    Contact me for copy.
Date reviewed in the blog: February 14, 2014

2010 March
Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis
(Report on CPHPC trials with 31 amyloidosis patients (six with fibrinogen amyloidosis) between 2001 and 2006.)
Link to online article:    http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2009.08036.x/full
Link to PDF:    http://onlinelibrary.wiley.com/doi/10.1111/j.1365-2141.2009.08036.x/pdf
Citation:    Gillmore JD, Tennent GA, Hutchinson WL, et al. Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis. Br J Haematol. 2010;148(5):760-767.
File name:    2010-03 (BJH).pdf
Date reviewed in the blog: February 7, 2014

2010 January
Amyloid Heart Disease
(How amyloidosis of all types affect the heart. Only briefly mentions fibrinogen amyloidosis.)

Link to online article:    http://www.onlinepcd.com/article/S0033-0620(09)00097-8/abstract
Link to PDF:    http://brighamandwomens.org/Departments_and_Services/medicine/services/cvcenter/Amyloidosis/Images/AmyloidReview.pdf
Citation: Falk RH, Dubrey SW. Amyloid heart disease. Prog Cardiovasc Dis. 2010;52(4):347-361.

File name:    2010-01 (PCD).pdf
Date reviewed in the blog: January 30, 2014

2009 August
Nephrotic Syndrome Due to an Amyloidogenic Mutation in Fibrinogen A alpha Chain
(Discusses diagnosis of hereditary amyloidosis from a pathology perspective)

Link to online article:    http://jasn.asnjournals.org/content/20/8/1681.full
Link to PDF:    http://jasn.asnjournals.org/content/20/8/1681.full.pdf
Citation:    Picken MM, Linke RP. Nephrotic syndrome due to an amyloidogenic mutation in fibrinogen A alpha chain. J Am Soc Nephrol. 2009;20(8):1681-1685.
File name:    2009-08 (JASN).pdf
Date reviewed in the blog: January 24, 2014

2009 August
Prevalence and Origin of Amyloid in Kidney Biopsies
(Out of 233 kidney biopsies diagnosed with amyloidosis at three European pathology department between 1990 and 2007, 4 had fibrinogen amyloidosis.)

Link to online article:    http://www.ncbi.nlm.nih.gov/pubmed/19561448
Citation:    von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C. Prevalence and origin of amyloid in kidney biopsies. Am J Surg Pathol. 2009;33(8):1198-1205.
File name:    Contact me for a copy.
Date reviewed in the blog: March 31, 2015

2009 May
Fibrinogen Amyloidosis: A Report of 15 French Cases
(Brief report on 15 French patients with fibrinogen amyloidosis, 7 of whom had the Glu526Val mutation.)
File name:    2009-05 (WCN).pdf
Date reviewed in the blog: January 18, 2014

2009 April
A preemptive combined liver-kidney transplantation in A alpha fibrinogen chain renal amyloidosis
(Report of a 35-year-old Portuguese woman who was given a liver-kidney transplant and is doing well four years later.)
Citation: J.-P. Delabre, G.-P. Pageaux, A. Le Quellec, P. Raynaud, G. Grateau, and G. Mourad, "Transplantation préemptive foie-rein pour une amylose rénale à fibrinogène Aα," Néphrologie & Thérapeutique, vol. 5, pp. 139-143, 4// 2009.
File name:    Contact me for a copy. (Article is in French.)
Date reviewed in the blog: February 28, 2015

2009 February
Diagnosis, Pathogenesis, Treatment, and Prognosis of Hereditary Fibrinogen A alpha-Chain Amyloidosis
(Study of 71 patients)
Citation:    Gillmore JD, Lachmann HJ, Rowczenio D, et al. Diagnosis, pathogenesis, treatment, and prognosis of hereditary fibrinogen A alpha-chain amyloidosis. J Am Soc Nephrol 2009; 20: 444-451.
File name:    2009-02 (JASN).pdf
Date reviewed in the blog: January 12, 2014

2008 December
Cardiac Amyloidosis with the E526V Mutation of the Fibrinogen A alpha-Chain
(A rare case of cardiac amyloidosis in a French patient with fibrinogen amyloidosis. Likely the same patient as described in the November 2008 article.)
Link to online article:    http://www.nejm.org/doi/full/10.1056/NEJMc0805012
Link to PDF:    http://www.nejm.org/doi/pdf/10.1056/NEJMc0805012
Citation:    Mourad G, Delabre JP, Garrigue V. Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. N Engl J Med. 2008;359(26):2847-2848.
File name:    2008-12 (NEJM).pdf
Date reviewed in the blog: January 6, 2014

2008 November
Myocardial involvement in fibrinogen A alpha-chain amyloidosis
(A rare case of cardiac amyloidosis in a French patient with fibrinogen amyloidosis. Likely the same patient as described in the December 2008 article.)
Link to online article:    http://www.ncbi.nlm.nih.gov/pubmed/19013365
Citation:    Gahide G, Roubille F, Macia JC, Garrigue V, Vernhet H. Myocardial involvement in fibrinogen A-alpha chain amyloidosis. Eur J Intern Med. 2008;19(7):e54-56.
File name:    Contact me for a copy.
Date reviewed in the blog: January 6, 2014

2008 May
Fibrinogen Amyloidosis: Report of the Portuguese Cluster
(Brief report on a geographically concentrated group of patients in Portugal with the fibrinogen Glu526Val mutation.)
Link to online article:    http://www.abstracts2view.com/era_archive/view.php?nu=ERA08L_454
File name   2008-05 (ERA-EDTA).pdf
Date reviewed in the blog: April 12, 2014

2008 May
Three German fibrinogen A alpha-chain amyloidosis patients with the p.Glu526Val mutation
Link to online article:    http://link.springer.com/article/10.1007/s00428-008-0619-4/fulltext.html
Link to PDF:    http://link.springer.com/article/10.1007%2Fs00428-008-0619-4
Virchows Archiv 2008; 453(1):25-31
File name:    2008-05 (Virchows).pdf
Date reviewed in the blog: December 30, 2013

2007 September
Structural analysis of fibrinogen amyloid fibrils
Link to online article:    http://informahealthcare.com/doi/abs/10.1080/13506120701461111
Citation:    Structural analyses of fibrinogen amyloid fibrils. Amyloid. 2007;14(3):199-203.
File Name:    Contact me for copy.
Date reviewed in the blog: December 24, 2013

2007 June
Renal involvement in systemic amyloidosis - an Italian retrospective study on epidemiological and clinical data at diagnosis
(Out of 373 Italian patients with renal biopsies showing amyloid deposits between January 1995 and December 2000, only one patient was diagnosed with fibrinogen amyloidosis.)
Link to online article:    http://ndt.oxfordjournals.org/content/22/6/1608.full
Link to PDF:    http://ndt.oxfordjournals.org/content/22/6/1608.full.pdf
Citation:    Bergesio F, Ciciani AM, Santostefano M, et al. Renal involvement in systemic amyloidosis--an Italian retrospective study on epidemiological and clinical data at diagnosis. Nephrol Dial Transplant. 2007;22(6):1608-1618.
File Name:    2007-06 (NDT).pdf
Date reviewed in the blog:    October 30, 2014

2007 May
New insights into systemic amyloidosis: the importance of diagnosis of specific type
(Broad article on the diagnosis of all types of systemic amyloidosis. Mentions the unique nature of amyloid deposits with fibrinogen amyloidosis, in that they selectively target the glomeruli.)
Link to online article:    http://journals.lww.com/co-nephrolhypertens/Abstract/2007/05000/New_insights_into_systemic_amyloidosis__the.5.aspx
Citation:    Picken MM. New insights into systemic amyloidosis: the importance of diagnosis of specific type. Curr Opin Nephrol Hypertens. 2007;16(3):196-203.
File name:    Contact me for a copy.
Date reviewed in the blog:    April 30, 2015

2007 March
Human plasma fibrinogen is synthesized in the liver
(Research on patients with fibrinogen amyloidosis who received liver-kidney transplants shows that at least 98% of fibrinogen is produced by the liver.)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/109/5/1971.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/109/5/1971.full.pdf
Citation:    Tennent GA, Brennan SO, Stangou AJ, O'Grady J, Hawkins PN, Pepys MB. Human plasma fibrinogen is synthesized in the liver. Blood 2007; 109: 1971-1974.
File name:    2007-03 (Blood).pdf
Date reviewed in the blog: December 18, 2013

2006 December
Amyloidosis-associated kidney disease
(Thorough discussion of effects of all types of amyloidosis on the kidneys, with some discussion of treatment strategies.)
Link to online article:    http://jasn.asnjournals.org/content/17/12/3458.full
Link to PDF:    http://jasn.asnjournals.org/content/17/12/3458.full.pdf
Citation:    Dember, L. M. Amyloidosis-associated kidney disease. J. Am Soc Nephrol 2006; 17: 3458-3471.
File name:    2006-12 (JASN).pdf
Date reviewed in the blog: December 12, 2013

2006 November
Structural Analyses of Fibrinogen A Alpha-Chain Amyloid Fibrils
(Describes the molecular structure of fibrinogen amyloid fibrils.)
Link to publisher's page for book: http://www.crcpress.com/product/isbn/9781420042818
Citation:    Skinner M, Berk JL, Connors LH, Seldin DC. XIth International Symposium on Amyloidosis: Taylor & Francis; 2010.
File Name: Contact me for a hard copy.
Date reviewed in the blog: December 24, 2013

2006 November
Recent novel and rare mutations in a clinic population of patients with amyloidosis
(Describes some of the mutations found in a population of 253 amyloidosis patients evaluated at Boston over a period of two years. Three patients had the Glu526Val fibrinogen amyloidosis mutation. Paper presented at XIth International Symposium on Amyloidosis.)
Link to publisher's page for book: http://www.crcpress.com/product/isbn/9781420042818
Citation:    Skinner M, Berk JL, Connors LH, Seldin DC. XIth International Symposium on Amyloidosis: Taylor & Francis; 2010.
File Name: Contact me for a hard copy.
Date reviewed in the blog:  December 6, 2013

2006 November
Hereditary fibrinogen A alpha-chain amyloidosis: Clinical features and the curative role of liver transplantation
(Study of 20 fibrinogen amyloidosis patients assessed at King's College Hospital in London, UK. Paper presented at XIth International Symposium on Amyloidosis.)
Link to publisher's page for book: http://www.crcpress.com/product/isbn/9781420042818
Citation:    Skinner M, Berk JL, Connors LH, Seldin DC. XIth International Symposium on Amyloidosis: Taylor & Francis; 2010.
File Name: Contact me for a hard copy.
Date reviewed in the blog:  November 30, 2013

2006 November
Familial amyloid nephropathy of fibrinogen A alpha (E526V) origin. Report of the first case from Austria.
(Report of a woman in Austria with the Glu526Val fibrinogen amyloidosis mutation. Paper presented at XIth International Symposium on Amyloidosis.)
Link to publisher's page for book:    http://www.crcpress.com/product/isbn/9781420042818
Citation:    Skinner M, Berk JL, Connors LH, Seldin DC. XIth International Symposium on Amyloidosis: Taylor & Francis; 2010.
File Name:    Contact me for a hard copy.
Date reviewed in the blog:  November 25, 2013

2006 June
Hereditary fibrinogen A alpha-chain amyloidosis
(Report of first case of fibrinogen amyloidosis in Australia. (Glu526Val mutation))
Link to online article:    http://journals.lww.com/pathologyrcpa/Citation/2006/38040/Hereditary_fibrinogen_A_alpha_chain_amyloidosis.24.aspx
Citation:    Lane SW, Goodman HJ, Francis L, Bofinger A, Mollee PN. Hereditary fibrinogen A alpha‐chain amyloidosis. Pathology - Journal of the RCPA. 2006;38(4):380-382 310.1080/00313020600820823.
File name:    Contact me for copy.
Date reviewed in the blog: October 24, 2013

2006 March
Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen A alpha-chain gene
(Transplant history of father and son with this rare fibrinogen mutation suggests liver transplant may be curative for all fibrinogen mutations.)
Link to online article:    http://onlinelibrary.wiley.com/doi/10.1111/j.1600-6143.2005.01199.x/full
Link to PDF:    http://onlinelibrary.wiley.com/doi/10.1111/j.1600-6143.2005.01199.x/pdf
Citation:    Mousson C, Heyd B, Justrabo E, et al. Successful hepatorenal transplantation in hereditary amyloidosis caused by a frame-shift mutation in fibrinogen A alpha-chain gene. Am J Transplant 2006; 6: 632-635.
File name:    2006-03 (AJT).pdf
Date reviewed in the blog: October 18, 2013

2005 November
Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen A alpha chain gene
(Report of a de novo fibrinogen mutation in a 7-year-old Korean girl.)
Link to online article:    http://www.nature.com/ki/journal/v68/n5/full/4496344a.html
Link to PDF:    http://www.nature.com/ki/journal/v68/n5/pdf/4496344a.pdf
Citation:    Kang HG, Bybee A, Ha IS, Park MS, Gilbertson JA, Cheong HI, Choi Y, Hawkins PN. Hereditary amyloidosis in early childhood associated with a novel insertion-deletion (indel) in the fibrinogen A alpha chain gene. Kidney Int 2005; 68: 1994-8.
File name:    2005-11 (KI).pdf
Date reviewed in the blog: August 18, 2013

2005 June
Fibrinogen A-alpha Chain Amyloidosis: Homozygosity for the Glu526Val Mutation
(Brief discussion of a Portuguese woman who was homozygous for the Glu526Val mutation.)
Link to online article:    http://www.abstracts2view.com/era_archive/view.php?nu=ERA5L_1540
File name:    2005-06 (ERA-EDTA).pdf
Date reviewed in the blog: April 12, 2014

2005 June
Ostertag revisited: The inherited systemic amyloidoses without neuropathy
(General overview of what was known at the time about hereditary renal amyloidosis.)
Link to online article:    http://informahealthcare.com/doi/abs/10.1080/13506120500106925
Citation:    Benson MD. Ostertag revisited: The inherited systemic amyloidoses without neuropathy. Amyloid 2005; 12: 75-87.
File name:    Contact me for copy.

Date reviewed in the blog: August 6, 2013

2004 April
Fibrinogen A alpha-chain amyloidosis: clinical features and outcome after hepatorenal or solitary kidney transplantation
(Paper presented at the Xth International Symposium on Amyloid and Amyloidosis.)
Link to publisher's page for book:    http://www.crcpress.com/product/isbn/9780849335341
Link to online article:    
http://www.crcnetbase.com/doi/abs/10.1201/9781420037494.ch126

2004 April
Hereditary Renal Amyloidosis in a German Family Associated With Fibrinogen A Alpha-Chain Glu540Val
(Case report of a German woman with the Glu540Val mutation for fibrinogen amyloidosis. Paper presented at the Xth International Symposium on Amyloid and Amyloidosis.)
Link to publisher's page for book:    http://www.crcpress.com/product/isbn/9780849335341
File name:    Contact me for a copy.
Date reviewed in the blog:    December 30, 2013

2004 January
Mutant fibrinogen A alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy
(Report of a Portuguese woman with the Glu526Val mutation who had not only renal involvement but also some neuropathy.)
Link to online article: http://informahealthcare.com/doi/abs/10.1080/13506120400000772
Citation:    de Carvalho M, Linke RP, Domingos F, Evangelista T, Ducla-Soares JL, Nathrath WB, Azevedo-Coutinho C, Lima R, Saraiva MJ. Mutant fibrinogen A-alpha-chain associated with hereditary renal amyloidosis and peripheral neuropathy. Amyloid 2004;11:200–207.
File name:    Contact me for copy.

Date reviewed in the blog: May 30, 2013 and April 5, 2014

2003 May
Hereditary systemic amyloidosis with renal involvement
(General overview of what was known at the time about hereditary renal amyloidosis.)
Link to online article:    http://www.ncbi.nlm.nih.gov/pubmed/12832750?dopt=Abstract
Citation: Hawkins PN. Hereditary systemic amyloidoses with renal involvement. J Nephrol. 2003;16:443–448.
File name:    Do not have it
Date reviewed in the blog: August 6, 2013

2003 February
Orthotopic liver transplantation for hereditary fibrinogen amyloidosis
(Case reports and follow-up on two liver-kidney transplant recipients)
Link to online article:    http://journals.lww.com/transplantjournal/Abstract/2003/02270/Orthotopic_liver_transplantation_for_hereditary.26.aspx
Citation:    Zeldenrust S, Gertz M, Uemichi T, et al. Orthotopic liver transplantation for hereditary fibrinogen amyloidosis. Transplantation 2003; 75: 560-561.
File name:    Contact me for copy.
Date reviewed in the blog: March 18, 2013 and October 12, 2013

2002 June
Misdiagnosis of Hereditary Amyloidosis as AL (Primary) Amyloidosis
(British study of 350 patients with diagnosis of AL amyloidosis found 9.7% actually had familial, including 5.1% with fibrinogen Glu526Val mutation.)
Link to online article:    http://www.nejm.org/doi/full/10.1056/NEJMoa013354#t=article
Link to PDF:    http://www.nejm.org/doi/pdf/10.1056/NEJMoa013354
Citation:    Lachmann HJ, Booth DR, Booth SE, et al. Misdiagnosis of Hereditary Amyloidosis as AL (Primary) Amyloidosis. N Engl J Med 2002; 346: 1786-1791.
File name:    2002-06 (NEJM).pdf
Date reviewed in the blog: May 12, 2013

2000 May
Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha-chain variant in an English family
(First British patient with Val526 mutation, and first liver-kidney transplant for fibrinogen amyloidosis in UK.)
Link to online article:    http://qjmed.oxfordjournals.org/content/93/5/269.full
Link to PDF:    http://qjmed.oxfordjournals.org/content/93/5/269.full.pdf
Citation:    Gillmore JD, Booth DR, Rela M, et al. Curative hepatorenal transplantation in systemic amyloidosis caused by the Glu526Val fibrinogen alpha‐chain variant in an English family. QJ Med 2000; 93: 269-275.
File name:    2000-05 (QJM).pdf
Date reviewed in the blog: April 30, 2013

1997 December
Renal Amyloidosis with a Frame Shift Mutation in Fibrinogen A alpha Chain Gene Producing a Novel Amyloid Protein
(First report of a second fibrinogen frame shift mutation, in a French kindred. (Val522Alafs*27 mutation.))
Link to online article:    http://bloodjournal.hematologylibrary.org/content/90/12/4799.full
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/90/12/4799.full.pdf
Citation:    Hamidi Asl L., Liepnieks J.J., Uemichi T., Rebibou J.M., Justrabo E., Droz D., Mousson C., Chalopin J.M., Benson M.D., Delpech M., Grateau G. Renal amyloidosis with a frame shift mutation in fibrinogen a α-chain gene producing a novel amyloid protein. Blood. 1997;90:4799–4805.
File name:    1997-12 (Blood).pdf
Date reviewed in the blog: April 18, 2013

1996 October
The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds
(Genetic analysis of two kindreds with hereditary renal amyloidosis reported before 1993 shows they have a fibrinogen mutation.)
Link to online article:    http://qjmed.oxfordjournals.org/content/89/10/745.full.pdf+html
Link to PDF:    http://qjmed.oxfordjournals.org/content/89/10/745.full.pdf
Citation: Uemichi T, Liepnieks JJ, Alexander F, Benson MD: The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. QJM 89:745, 1996
File name:    1996-10 (QJM).pdf
Date reviewed in the blog:  April 12, 2013

1996 May
A Frame Shift Mutation in the Fibrinogen A alpha Chain Gene in a Kindred With Renal Amyloidosis
(First report of the Glu524Glufs*25 mutation.)
Link to online article:    http://bloodjournal.hematologylibrary.org/content/87/10/4197.full.pdf+html
Link to PDF:    http://bloodjournal.hematologylibrary.org/content/87/10/4197.full.pdf
Citation:    Uemichi T, Liepnieks JJ, Yamada T, Gertz MA, Bang N, Benson MD. A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. Blood 1996; 87:4197-203.
File name:    1996-05 (Blood).pdf
Date reviewed in the blog:    March 30, 2013

1996 February
Five Kindreds with Variant Fibrinogen Presenting Renal Amyloidosis
(One-paragraph description of five kindreds having the three known fibrinogen mutations.)
Link to online article:    http://www.sciencedirect.com/science/article/pii/0960896696888559
Citation:    Uemichi T, Liepnieks JJ, Hull MT, Gertz MA, Benson MD. Five kindreds with variant fibrinogen presenting renal amyloidosis. Neuromuscular Disorders. 1996;6, Supplement 1(0):S35.
File name:    Contact me for copy.
Date reviewed in the blog:    October 30, 2014

1994 February
Hereditary Renal Amyloidosis with a Novel Variant Fibrinogen
(First report of Glu526Val mutation, which is the most commonly reported of the fibrinogen mutations.)
Link to online article:    http://www.jci.org/articles/view/117027
Link to PDF:    http://www.jci.org/articles/view/117027/pdf
Citation:    Uemichi T, Liepnieks JJ, Benson MD. Hereditary renal amyloidosis with a novel variant fibrinogen. J Clin Invest. 1994;93(2):731-736.
File name:    1994-02 (JCI).pdf
Date reviewed in the blog:    March 20, 2013

1993 March
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain
(First published article on any mutation (Arg554Leu) causing fibrinogen amyloidosis.)
Link to online article:    http://www.nature.com/ng/journal/v3/n3/abs/ng0393-252.html (not free)
Link to PDF:    http://www.nature.com/ng/journal/v3/n3/pdf/ng0393-252.pdf (not free)
Citation:    Benson MD, Liepnieks J, Uemichi T, Wheeler G, Correa R. Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. Nat Genet 1993; 3: 252-255.
File name:    Contact me for copy.
Date reviewed in the blog:    March 20, 2013 and September 30, 2013

Here are some historical articles published before the first fibrinogen mutation was identified

1991 February
Inherited Amyloidosis
(State of hereditary amyloidosis and genetic testing as of 1991. No mention of hereditary renal amyloidosis.)
Link to PDF:    http://jmg.bmj.com/content/28/2/73.full.pdf+html
Citation:    Benson MD. Inherited amyloidosis. J Med Genet 1991;28: 73-8.
File name:    1991-02 (JMG).pdf
Date reviewed in the blog:    March 10, 2013

1982 October
Familial renal amyloidosis: Case reports and genetic studies
(Report of three Irish-American siblings with a clinical history of nephropathy. Ages 49, 52 and 55. (Same siblings as 1981 Mornaghi article.) Additional genetic studies were done on 21 relatives.) This family was later found to have the fibrinogen Glu526Val mutation.
Link to online article:    http://www.amjmed.com/article/0002-9343(82)90342-4/abstract
Citation:    Mornaghi, R., P. Rubinstein, and E. C. Franklin. 1982. Familial renal amyloidosis: case reports and genetic studies. Am. J. Med. 73:609-614.
File name:    Contact me for copy.
Date reviewed in the blog:    March 5, 2013  and September 6, 2013

1982
Familial Amyloidosis of Ostertag
(Report of six English family members in two generations with renal amyloidosis.)
Link to online article:    http://qjmed.oxfordjournals.org/content/51/1/25.abstract
Citation:    Lanham, J. G., M. L. Meltzer, F. C. De Beer, G. R. V. Hughes, and M. B. Pepys. 1982. Familial amyloidosis of Ostertag. Q. J. Med. 201:25-32.
File name:    Contact me for a hard copy.
Date reviewed in the blog:    March 5, 2013 and September 18, 2013

1981

Studies on the pathogenesis of a familial form of renal amyloidosis
(Report of three Irish-American siblings with a clinical history of nephropathy. Ages 49, 52 and 55. (Same siblings as 1982 Mornaghi article.))
Link to online article:    http://www.ncbi.nlm.nih.gov/pubmed/7344220
Citation:    Mornaghi, R., P. Rubinstein, and E. C. Franklin. 1981. Studies on the pathogenesis of a familial form of renal amyloidosis. Trans. Assoc. Am. Phys. 94:21 1-216.
File name:    I only have a hard copy.
Date reviewed in the blog:    March 5, 2013 and September 6, 2013

1975
Familial renal amyloidosis: Case reports, literature review and classification
(Report of three Canadian siblings of Polish origin with renal amyloidosis. They developed hypertension and nephrotic syndrome at the ages of 42, 52 and 58, and died at the ages of 49, 55 and 60. Their mother and a maternal aunt died in middle age with a clinically similar disease.)
Link to online article:    http://www.amjmed.com/article/0002-9343(75)90329-0/abstract
Citation:    Alexander F, Atkins EL. Familial renal amyloidosis. Case reports, literature review and classification. Am J Med. 1975;59(1):121-128.
File name: Contact me for copy
Date reviewed in the blog:    February 24, 2013 and August 30, 2013

1974
Amyloid Nephropathy of Ostertag: Report of a kindred
(Report of four patients in three generations with renal amyloidosis. (Probably the same kindred as the 1973 article.))
Link to online article:    http://www.ncbi.nlm.nih.gov/pubmed/4470911
Citation:    Weiss SH, Page DL. Amyloid nephropathy of Ostertag: report of a kindred. Birth Defects Orig Artic Ser. 1974;10(4):67-68.
File name: Do not have it
Date reviewed in the blog:    February 24, 2013

1973 September
Amyloid Nephropathy of Ostertag with Special Reference to Renal Glomerular Giant Cells
(Report on two sisters with renal disease. Detailed pathological report describing kidneys as well as amyloid deposits in multiple organs.)
Link to online article:    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904021/
Link to PDF:    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904021/pdf/amjpathol00253-0109.pdf
Citation:    Weiss SW, Page DL. Amyloid nephropathy of Ostertag with special reference to renal glomerular giant cells. Am J Pathol. 1973;72(3):447-460.
File name:    1973-09 (AJP).pdf
Date reviewed in the blog:    February 24, 2013


Internet Resources Related to Fibrinogen Amyloidosis


Here is a very thorough article on familial renal amyloidosis. (In addition to fibrinogen, the article also covers lysozyme and apolipoprotein mutations.) It's written for doctors, making it a little on the technical side, but most of it is understandable to this layperson. Point your physician here if he or she wants to get a quick overview of hereditary renal amyloidosis: http://emedicine.medscape.com/article/246221-overview

The National Amyloidosis Centre in the UK has published podcasts for their annual network meetings. These podcasts are really excellent because they aren't just audio. The slides used during the presentations are also displayed and timed to change when appropriate. Here is the link to the presentations given during the fourth meeting: http://www.ucl.ac.uk/medicine/amyloidosis/nac/mtg-podcasts/fourth_meeting  [That link is dead as of March of 2014.] These presentations obviously touch on all types of amyloidosis, but if you have any interest at all in the use of organ transplants in the treatment of fibrinogen amyloidosis, you must listen to and watch the last two presentations.

Mutations in Hereditary Amyloidosis. This web site, maintained by the National Amyloidosis Centre in the UK, is sort of a clearinghouse for basic information on all familial amyloidosis mutations. This page, for instance, lists all the known mutations for fibrinogen amyloidosis. (There are 12 as of November 2012.) The last column in the table is a link to the journal article that first described each mutation.

If you live in the US and have questions about genetic testing, the GINA Help site probably has the answers: 
http://www.ginahelp.org/


General Information About Amyloidosis on the Internet



These are the main links I would recommend as starting points to find out about amyloidosis in general.

Mayo Clinic  --  http://www.mayoclinic.org/amyloidosis/

Boston University  --  http://www.bu.edu/amyloid/

Amyloidosis Support Groups  --  http://www.amyloidosissupport.com/

Amyloidosis Foundation  --  http://www.amyloidosis.org/

Amyloidosis: Diagnosis and Treatment  --  http://www.scribd.com/doc/45645767/Amyloidosis (This is a book published in 2010 that covers all types of amyloidosis. It can be read online, or the entire book can be downloaded as a PDF file. Downloading does require registering on scribd.com, which is painless.)

1 comment:

  1. Hi David - great blog! I am adjusting to life in London and looking for employment. I have been on the CPHPC now for nearly 2 months -self injecting 30ml three times a day. It will be a while before we know anything and my first proteinuria check is in Jan. Will keep you posted. By the way, you are welcome to use my full name.
    Best regards and healthy wishes to your Mom
    Nicola

    ReplyDelete