Monday, August 31, 2015

Article Review (2013) - Delayed diagnosis of fibrinogen A alpha-chain amyloidosis after dual heart–kidney transplantation

Today's post will be our first article review since April of this year. So much for doing reviewing one article per month, right? As you can tell from the title of this post, the patient in this case underwent organ transplantation (heart and kidney) before being diagnosed with amyloidosis. Would a proper diagnosis before the transplant have made any difference? Let's see . . .

TitleDelayed diagnosis of fibrinogen A alpha-chain amyloidosis after dual heart–kidney transplantation (1)

Authors: Tristan Legris, Laurent Daniel, Valeris Moal (Marseille, France)

Journal: Transplant International (January 2013)

There is no abstract for this article since it is actually a letter to the editors of the journal. Here is the link to the article online:

This article is about a male patient who had a heart attack in 2003 at the age of 55. His heart did not do well after the heart attack, despite angioplasty and implantation of a stent. He also had indications of moderate renal failure (elevated serum creatinine and and proteinuria), but that was not explored until 2004 when it worsened. His kidneys were too small for biopsy (8 cm), and no tests could explain the kidney problems. There was also no family history of renal failure. He started hemodialysis at the end of 2004 and was placed on the waiting list for combined heart-kidney transplantation, which he received in November of 2005.

The article discusses the issues with the heart over the next few years, including receiving a pacemaker in 2010. It also states there was septum wall thickening, an impaired relaxation pattern with restrictive profile, and normal ejection fraction (65%). The article also states that the septum had a "granular sparkling appearance." (Note: Those are common findings in a patient with cardiac amyloid involvement.)

In 2011 a renal biopsy showed the presence of amyloid with congo red staining. The amyloid deposits were primarily glomerular. Immunofluorescence was positive for fibrinogen, and genetic analysis found him to have the Glu526Val mutation. Then they examined some tissue from his explanted heart (the original heart that was removed for transplant) and found mild amyloid deposits. The biopsies from his transplanted heart, however, did not show amyloid deposits.

As of the writing of this article (presumably late in 2012), the patient was doing well, with mild proteinuria. The article states that recurrence of amyloid is proven in the transplanted kidney, but only suspected in the transplanted heart.


As far as I know this article describes the only case of heart-kidney transplantation in a patient with fibrinogen amyloidosis. It is also an unusual case for the obvious reason that the diagnosis of fibrinogen amyloidosis was made after the transplant. As to whether that would have made a difference in this case, the conclusion of the article states the following: "The diagnosis of systemic AFib amyloidosis at the time of discovery of proteinuria would have led us to discuss combined heart-liver transplantation or heart-liver-kidney transplantation."

This patient is not the first patient described in the literature with fibrinogen amyloidosis and clinically significant heart involvement. Another patient was described in two articles reviewed in the blog on January 6, 2014. That patient presented with proteinuria at the age of 48, and then reported shortness of breath at age 51. Heart biopsies at age 53 showed amyloid involvement, and he eventually received a pacemaker and an implanted defibrillator.

The recurrence of amyloid in a transplanted kidney has been described in other articles. This one occurred about six years after transplant, which is within the normal range if I remember correctly. The fact that biopsies taken from the transplanted heart were negative for amyloid is not unusual, as that often happens in cases of AL amyloidosis with heart involvement.

It is still worth noting that significant heart involvement with AFib is rare, whereas mild involvement has been noted in some patients. My assessment of the published data indicates renal involvement can be expected to precede clinically significant heart involvement by several years. This patient's heart attack at a time when he had only mild renal involvement likely means the cause of the heart attack was something other than amyloid. My understanding is that amyloid deposits in the heart cause a gradually stiffening of the heart, reducing the ability of the heart to pump blood efficiently. So please do not worry about AFib causing a heart attack.

Next up will be an update on Mom.

=====Monthly Blog Status Update===== 

As of July 31, 2015:

Total posts: 154 (1 in July)

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Email subscribers: 12 (unchanged)

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One new country visited the blog in July.



(1) 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.

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