Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients

Meyer, Lara; Ulrich, M.; Ducloux, Didier; Garrigue, Valérie; Vigneau, Cécile; Nochy, Dominique; Bobrie, Guillaume; Ferlicot, Sophie; Colombat, Magalie; Boffa, Jean‐Jacques; Clabault, Karine; Mansour, Jeannette; Mousson, Christiane; Azar, Raymond; Bacri, Jean-Louis; Dürrbach, Antoine; Duvic, Christian; Karoui, Khalil El; Hoffmann, Maxime; Lionet, Arnaud; Plaisier, Emmanuelle; Ratsimbazafy, A.; Guerrot, Dominique; Vrigneaud, Laurence; Valleix, Sophie; François, H.

doi:10.1053/j.ajkd.2020.02.445

Cited by 6 publications

(5 citation statements)

References 25 publications

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“… 18 , 19 Such combined organ transplantation has been shown to halt disease progression and prevent recurrence. 18 - 20 Our patient had no clinically detectable proteinuria, so he was judged to have been diagnosed early in the course of AFib amyloidosis of his kidney transplant. Also, the kidney transplant is the only organ involved in his case, and he is being treated conservatively.…”

Section: Discussionmentioning

confidence: 86%

“…Clinical presentations vary with respect to age, disease onset, rate of progression, prognosis, and organ involvement. 4 , 17 - 20 Patients with an advanced disease usually present with nephrotic range proteinuria, hypertension, and worsening renal function. Some may have a rapid progression to ESKD in 4 to 5 years from the onset of symptoms.…”

Section: Discussionmentioning

confidence: 99%

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De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review

Khaja,

Truong,

Nassar

2023

Can J Kidney Health Dis

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Rationale: De Novo transplant amyloidosis denotes the condition when a patient develops amyloidosis after transplantation but had not been diagnosed with the disease prior to transplantation. The incidence of de novo amyloidosis in kidney transplants is rare, but few published case reports have described the occurrence of de novo Amyloid A protein (AA) and Light Chain (AL) amyloidosis. However, de novo hereditary fibrinogen A alpha chain (AFib) has not been previously reported. Patient Presentation: We present a 72-year-old man, a kidney transplant recipient, who developed progressive rise in his creatinine about 3 years after transplantation. He has long-standing diabetes mellitus type 2, obesity, and hypertension, so he did not have a kidney biopsy of his native kidneys prior to transplantation. Diagnosis: A kidney transplant biopsy was done that showed amyloidosis. Mass spectrophotometry confirmed it as AFib amyloidosis. Genetic testing of the patient revealed that he has fibrinogen A alpha gene (FGA) point mutation with a p.E545V variant. Interventions: Cardiac evaluation showed normal transthoracic echocardiogram. Cardiac magnetic resonance imaging (MRI) showed no involvement by amyloidosis. A peripheral nerve biopsy showed diabetic neuropathy. Thus, the kidney was the only organ involved by the disease. The kidney transplant was managed conservatively with blood pressure and diabetes control in addition to his usual immunosuppression regimen which was not altered. He is being treated with diuretics, angiotensin receptor inhibitors, and sodium glucose transport 2 inhibitors. Outcomes: Kidney transplant function exhibited only slow progression over 18 months since the diagnosis was confirmed. This slow progression is likely because the p.E545V point mutation variant is less aggressive than other gene deletion mutations and because our patient was judged to have been diagnosed early in the course of his disease. Teaching Points: In this case report, we illustrate the findings and testing that confirmed the diagnosis of AFib amyloidosis. We summarize the clinical aspects, outcomes of the disease, and treatment options. We believe this case report is interesting because it is the first reported case of AFib amyloidosis in a kidney transplant recipient who was not known to have the disease prior to kidney transplantation.

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Section: Discussionmentioning

confidence: 86%

Section: Discussionmentioning

confidence: 99%

De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review

Khaja,

Truong,

Nassar

2023

Can J Kidney Health Dis

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“…Along this line, a Mayo Clinic series comprising 474 patients with histologically proven renal amyloidosis revealed Ig-related amyloidosis in the vast majority of the cases (86%), followed by 7% of AA, 3% of ALECT2, and 1% of AFib ( 17 ). It must be noted, however, that AFib is the leading cause of hereditary renal amyloidosis in Europe and the United States ( 18 , 19 ).…”

Section: Renal Amyloidosismentioning

confidence: 99%

“…The Glu545Val variant is usually associated with late-onset disease, slow progression to ESKD, low penetrance, and a good outcome after KT. FGA frameshift variants, on the other hand, are associated with early onset disease, fast progression, and fast amyloid recurrence after KT ( 7 , 18 , 19 , 54 ). In a recent French case series, KT appeared to be a viable option for patients with the Glu545Val variant, whereas liver-kidney transplant may be a preferred option in patients with frameshift variants ( 18 ).…”

Section: Types Of Renal Amyloidosesmentioning

confidence: 99%

Renal amyloidosis: a new time for a complete diagnosis

Feitosa

Neves

Jorge

et al. 2022

Braz J Med Biol Res

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Amyloidoses are a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues as insoluble fibrils, causing organ dysfunction. Clinical management depends on the subtype of the protein deposited and the affected organs. Systemic amyloidosis may stem from anomalous proteins, such as immunoglobulin light chains or serum amyloid proteins in chronic inflammation or may arise from hereditary disorders. Hereditary amyloidosis consists of a group of rare conditions that do not respond to chemotherapy, hence the identification of the amyloid subtype is essential for diagnosis, prognosis, and treatment. The kidney is the organ most frequently involved in systemic amyloidosis. Renal amyloidosis is characterized by acellular pathologic Congo red-positive deposition of amyloid fibrils in glomeruli, vessels, and/or interstitium. This disease manifests with heavy proteinuria, nephrotic syndrome, and progression to end-stage kidney failure. In some situations, it is not possible to identify the amyloid subtype using immunodetection methods, so the diagnosis remains indeterminate. In cases where hereditary amyloidosis is suspected or cannot be excluded, genetic testing should be considered. Of note, laser microdissection/mass spectrometry is currently the gold standard for accurate diagnosis of amyloidosis, especially in inconclusive cases. This article reviews the clinical manifestations and the current diagnostic landscape of renal amyloidosis.

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“…ATTRv belongs to a group of hereditary amyloidoses that are associated with mutations in the amyloidogenic proteins (Table 1). As several amyloidogenic proteins are produced predominantly or, in some cases exclusively by the liver, decades ago, liver transplantation was introduced as a form of surgical gene therapy, and is still in use for certain types of amyloidosis where no other therapies are available; it can preserve the target organ, typically the kidney, but can also prevent other grave complications, including retinal [17,[24][25][26].…”

Section: Amyloid Types: Diversity Versus the Most Common Types And Es...mentioning

confidence: 99%

Diagnosis of amyloid beyond Congo red

Picken

2020

Current Opinion in Nephrology &Amp; Hypertension

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Purpose of review Amyloidoses are a group of rare and heterogeneous diseases in which abnormally folded proteins deposit in tissues and lead to organ damage. A brief review of advances in the diagnosis of extracerebral systemic amyloidoses in the context of recent advances in their clinical management is provided. Recent findings Although steady progress in the treatment of AL and AA has evolved over many years, significant advances in the treatment of ATTR, transthyretin-derived amyloidosis, have been achieved only recently. This coincides with the emergence of nontissue diagnosis of cardiac ATTR in both the hereditary and wild-type settings. The latter is emerging as possibly the most prevalent type of systemic amyloidosis. Available treatments are amyloid protein type dependent and, hence, following amyloid detection, amyloid protein typing is necessary. Although mass spectrometry has emerged as the preferred method of amyloid typing, careful application of immune methods is still clinically useful but caution and experience, as well as awareness of the limitations of each method, are necessary in their interpretation. Summary Despite significant advances in the treatment of the systemic amyloidoses, outcomes remain poor, primarily due to delays in diagnosis. Precise diagnosis of the amyloid protein type is critical for treatment selection.

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Organ Transplantation in Hereditary Fibrinogen A α-Chain Amyloidosis: A Case Series of French Patients

Cited by 6 publications

References 25 publications

De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review

De Novo Fibrinogen A Alpha Chain Amyloidosis in a Kidney Transplant Patient: Case Report and Literature Review

Renal amyloidosis: a new time for a complete diagnosis

Diagnosis of amyloid beyond Congo red

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