Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report

INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduc...

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Autores principales: Sevinc, Mustafa, Basturk, Taner, Sahutoglu, Tuncay, Sakaci, Tamer, Koc, Yener, Ahbap, Elbis, Akgol, Cuneyt, Kara, Ekrem, Brocklebank, Vicky, Goodship, Tim HJ, Kavanagh, David, Unsal, Abdulkadir
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423495/
https://www.ncbi.nlm.nih.gov/pubmed/25925370
http://dx.doi.org/10.1186/s13256-015-0575-y
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author Sevinc, Mustafa
Basturk, Taner
Sahutoglu, Tuncay
Sakaci, Tamer
Koc, Yener
Ahbap, Elbis
Akgol, Cuneyt
Kara, Ekrem
Brocklebank, Vicky
Goodship, Tim HJ
Kavanagh, David
Unsal, Abdulkadir
author_facet Sevinc, Mustafa
Basturk, Taner
Sahutoglu, Tuncay
Sakaci, Tamer
Koc, Yener
Ahbap, Elbis
Akgol, Cuneyt
Kara, Ekrem
Brocklebank, Vicky
Goodship, Tim HJ
Kavanagh, David
Unsal, Abdulkadir
author_sort Sevinc, Mustafa
collection PubMed
description INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduced into clinical practice. We present a large pedigree with multiple individuals carrying a functionally significant novel factor H mutation. We describe the proband’s presentation following a presumed infectious trigger requiring plasma exchange and hemodialysis. CASE PRESENTATION: A 32-year-old Caucasian woman presented with pyrexia and headache lasting one week to our Emergency Department. She gave no history of diarrhea or other symptoms to account for her high temperature. She was not taking any medication. She was pyrexial (38°C), tachycardic (110bpm) and hypertensive (160/110mmHg). Her fundoscopy revealed grade IV hypertensive retinopathy. She had mild pretibial and periorbital edema, with oliguria (450mL/day). She had a pregnancy one year previously, during which she had hypertension, proteinuria and edema, with successful delivery at term. Her mother had died in her early 30s with a clinical picture consistent with thrombotic microangiopathy. Her laboratory evaluation showed microangiopathic hemolytic anemia. After 22 sessions of plasma exchange, her lactate dehydrogenase levels started to climb. As a result, she was classified as plasma resistant and eculizumab therapy was instituted. Her lactate dehydrogenase level and platelet count normalized, and her renal function recovered after three months of dialysis. CONCLUSIONS: We demonstrate that, even in patients with atypical hemolytic uremic syndrome and prolonged dialysis dependence, recovery of renal function can be seen with eculizumab treatment. We suggest a treatment regime of at least three months prior to evaluation of efficacy.
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spelling pubmed-44234952015-05-08 Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report Sevinc, Mustafa Basturk, Taner Sahutoglu, Tuncay Sakaci, Tamer Koc, Yener Ahbap, Elbis Akgol, Cuneyt Kara, Ekrem Brocklebank, Vicky Goodship, Tim HJ Kavanagh, David Unsal, Abdulkadir J Med Case Rep Case Report INTRODUCTION: Thrombotic microangiopathies are a group of diseases presenting as microangiopathic hemolytic anemia, thrombocytopenia and end-organ dysfunction. As the role of the complement system was elucidated in atypical hemolytic uremic syndrome pathogenesis, eculizumab was successfully introduced into clinical practice. We present a large pedigree with multiple individuals carrying a functionally significant novel factor H mutation. We describe the proband’s presentation following a presumed infectious trigger requiring plasma exchange and hemodialysis. CASE PRESENTATION: A 32-year-old Caucasian woman presented with pyrexia and headache lasting one week to our Emergency Department. She gave no history of diarrhea or other symptoms to account for her high temperature. She was not taking any medication. She was pyrexial (38°C), tachycardic (110bpm) and hypertensive (160/110mmHg). Her fundoscopy revealed grade IV hypertensive retinopathy. She had mild pretibial and periorbital edema, with oliguria (450mL/day). She had a pregnancy one year previously, during which she had hypertension, proteinuria and edema, with successful delivery at term. Her mother had died in her early 30s with a clinical picture consistent with thrombotic microangiopathy. Her laboratory evaluation showed microangiopathic hemolytic anemia. After 22 sessions of plasma exchange, her lactate dehydrogenase levels started to climb. As a result, she was classified as plasma resistant and eculizumab therapy was instituted. Her lactate dehydrogenase level and platelet count normalized, and her renal function recovered after three months of dialysis. CONCLUSIONS: We demonstrate that, even in patients with atypical hemolytic uremic syndrome and prolonged dialysis dependence, recovery of renal function can be seen with eculizumab treatment. We suggest a treatment regime of at least three months prior to evaluation of efficacy. BioMed Central 2015-04-29 /pmc/articles/PMC4423495/ /pubmed/25925370 http://dx.doi.org/10.1186/s13256-015-0575-y Text en © Sevinc et al.; licensee BioMed Central. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Sevinc, Mustafa
Basturk, Taner
Sahutoglu, Tuncay
Sakaci, Tamer
Koc, Yener
Ahbap, Elbis
Akgol, Cuneyt
Kara, Ekrem
Brocklebank, Vicky
Goodship, Tim HJ
Kavanagh, David
Unsal, Abdulkadir
Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title_full Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title_fullStr Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title_full_unstemmed Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title_short Plasma resistant atypical hemolytic uremic syndrome associated with a CFH mutation treated with eculizumab: a case report
title_sort plasma resistant atypical hemolytic uremic syndrome associated with a cfh mutation treated with eculizumab: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423495/
https://www.ncbi.nlm.nih.gov/pubmed/25925370
http://dx.doi.org/10.1186/s13256-015-0575-y
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