When a Headache Is Not Just Hypertension: A Case of Atypical Hemolytic Uremic Syndrome in a Young Patient

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Lorenzo D'Elia

DOI: 10.69097/41-03-2024-06

Lorenzo D’Elia1, Luciano Cencioni1, Martina Ferraresi2, Antonio Marciello3, Antonietta Rizzuto2, Luisa Sandri2, Paolo Maurizio Perosa2

1 UOS Nefrologia e dialisi Ospedale “Santa Maria della Stella” USL Umbria 2 Orvieto (TR)
2 SS Nefrologia e dialisi ASLTO3, Ospedale “Edoardo Agnelli” di Pinerolo (TO)
3 Struttura Operativa Complessa (S.O.C.) di Nefrologia, Dialisi Ospedale “Michele e Pietro Ferrero” ASL CN 2 Verduno (CN)

Corresponding author:
Lorenzo D’Elia
UOS Nefrologia e dialisi Ospedale “Santa Maria della Stella”
Località Ciconia 1 05018 Orvieto (TR)
Tel.: 0763-307301
E-mail: lorenzo.delia@uslumbria2.it

 

Abstract

Thrombotic microangiopathies represent a group of particularly serious pathologies that can cause a rapid worsening of renal function, especially in young subjects. Through the clinical case described, we will focus our attention on the clinical and laboratory manifestations of the pathology, on the diagnostics and on the therapies to be used. Recent therapeutic innovations for the treatment of this pathology will also be analysed.

Keywords: Thrombotic microangiopathies, Hemolytic Uremic Syndrome

Sorry, this entry is only available in Italian.

Introduzione

Le microangiopatie trombotiche (TMA) comprendono un gruppo di patologie che, pur presentando una differente eziopatogenesi, sono accumunate da alcune caratteristiche come: danno endoteliale, formazione di microtrombi, trombocitopenia da consumo, anemia emolitica microangiopatica e presenza di danni ischemici secondari polidistrettuali. Le principali entità patologiche incluse nelle TMA sono rappresentate dalla porpora trombotica trombocitopenica (TTP) e dalla sindrome emolitico uremica (HUS) [1]. La TPP è una patologia secondaria alla carenza di una metalloproteasi (ADAMTS13 A Disintegrin And Metalloproteinase with TromboSpondin type 1 motif number 13) normalmente deputata al clivaggio dei multimeri di grandi dimensioni del fattore di von Willebrand (VWF) presenti sull’endotelio vascolare o liberi in circolo [2]. Nella HUS, invece, non si osserva un deficit di ADAMTS13, ma per molteplici cause si innesca un danno endoteliale con successivo quadro di microangiopatia trombotica che, a differenza di quanto osservato nella TTP, presenta un prevalente coinvolgimento renale [3]. La TTP ha un’incidenza di circa 1.5-4 casi su un milione di adulti all’anno, sulla base dei dati del registro TTP-HUS dell’Oklahoma [4]. L’età media per la diagnosi di TTP immunitaria è di 40 anni, con un ampio intervallo (da 9 a 78 anni). 

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HELLP syndrome and hemolytic uremic syndrome during pregnancy: two disease entities, same causation. Case report and literature review

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Andrea Mancini1, Gianluigi Ardissino2, Pernina Angelini1, Vincenzo Giancaspro1, Elvira La Raia1, Mariateresa Nisi1, Annarita Proscia1, Giuseppe Tarantino1, Ottavia Vitale1, Filomena D’elia2

1 S.C. di Nefrologia e Dialisi Ospedale Di Venere - BARI
2 Centro per la Cura e lo Studio della Sindrome Emolitico-Uremica. Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano

Corrispondenza a:
Andrea Mancini
SC di Nefrologia e Dialisi Ospedale Di Venere
Via Madonna delle Grazie 59/B Rutigliano, Bari (BA)
Tel: 3474402862
Email: andreadot@libero.it

 

Abstract

Abstract

Thrombotic microangiopathies (TMA) are a group of diseases that can complicate pregnancy and threaten the lives of both the mother and the fetus. Several conditions can lead to TMA, including thrombotic thrombocytopenic purpura (TTP), HELLP syndrome and hemolytic uremic syndrome (HUS). We describe the case of a 39-year-old woman who presented a HELLP syndrome in the immediate postpartum period. The patient had acute kidney injury (AKI), increased LDH, unmeasurable haptoglobin levels and hypocomplementemia. Her ADAMTS13 value was normal, thus ruling out TTP. Shiga toxin tests were negative, so HUS associated with E. coli was also ruled out. HELLP syndrome and atypical hemolytic-uremic syndrome (aHUS) remained the most probable diagnosis. In the days following childbirth, the patient’s transaminase and bilirubin levels normalized while the anemia persisted, as did the AKI, resulting in the institution of dialysis treatment. A diagnosis of aHUS was made and therapy with eculizumab was started. The patient’s blood counts progressively improved, urine output was restored, her indices of renal function also concomitantly improved and dialysis was interrupted. A rash appeared after the third administration of eculizumab and the treatment was suspended. The patient is currently being followed up and has not relapsed. At thirteen months after delivery her renal function is normal as are her platelet counts, LDH, haptoglobin levels and proteinuria. Tests for mutations in the genes that regulate complement activity were negative. We believe that childbirth triggered the HELLP syndrome, which in turn brought about and sustained the HUS. In fact, the patient’s liver function improved right after delivery, while her kidney injury and hemolysis persisted, and she also had an excellent response to eculizumab. To our knowledge, no other cases of HELLP syndrome associated with haemolytic uremic syndrome during pregnancy have been reported in literature, nor have cases in which treatment with eculizumab was limited to only three administrations.

Keywords: HELLP syndrome, hemolytic uremic syndrome, pregnancy, eculizumab, thrombotic microangiopathy

Sorry, this entry is only available in Italian.

Introduzione

Le microangiopatie trombotiche (MAT) rappresentano un eterogeneo gruppo di affezioni che possono complicare la gravidanza mettendo a rischio la vita della madre e del feto. Tra di esse troviamo la porpora trombotica trombocitopenica (PTT), la sindrome HELLP e la sindrome emolitica uremica (SEU), tutte caratterizzate da un danno a carico delle cellule endoteliali e trombosi dei piccoli vasi che si manifestano clinicamente con anemia emolitica, trombocitopenia, e danno d’organo [1–3]. I confini tra queste patologie non sono ben definiti tanto che può essere difficile o addirittura impossibile una diagnosi differenziale, considerando poi che dette condizioni possono coesistere [4–8]. A complicare ulteriormente l’iter diagnostico, durante la gravidanza i parametri ematologici [9], della proteinuria [10] e della concentrazione del complemento hanno range di riferimento differenti rispetto al soggetto non in gravidanza [11-12]. 

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Atypical Hemolytic Uremic Syndrome: experience of a pediatric center

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Rosa Cusumano, Maria Chiara Sapia, Ciro Corrado, Elisa La Barba, Maria Michela D’Alessandro, Giovanni Pavone, Silvio Maringhini

ARNAS Civico Palermo, UO Nefrologia Pediatrica

Corrispondenza a:
Dott.ssa Rosa Cusumano,
ARNAS Civico Palermo,
Via Benedettini 2, 90134 Palermo
tel 329.93.42.756, fax 091.66.66.078,
e-mail: rosa.cusumano@ospedalecivicopa.org

 

Abstract

In the last two years we admitted in our Hospital  38 children with acute renal failure (ARF). Six of them were affected by hemolytic uremic syndrome (HUS) atypical. The aHUS is diagnosed in the presence of thrombotic microangiopathy (MAT), renal insufficiency (GFR 5%).

The clinical presentation of our children has been varied and so also its evolution. Patients observed were all male, aged 2 to 12 years, and no one had a family history of kidney disease. In four patients we documented alterations of complement factors (MCP deficiency and factor H and presence of anti factor H). Repeated blood transfusions were required in 4 patients and in 3 patients the platelet count was slightly reduced. In 5 patients we did plasmapheresis and in 3 patients dialysis (hemodialysis and peritoneal dialysis). In three patients in whom the diagnosis was not clear, renal biopsy was performed to confirm the diagnosis. Eculizumab was administered in 3 patients resistant to plasma exchange. We obtain a rapid response on MAT with normalization of platelet count. The effect on renal function was variable (complete remission in a patient, partial improvement in another, and unresponsiveness in the last). The last had on Kidney biopsy signs of severe impairment and we documented the presence of antibodies to eculizumab. HUS is a rare condition, but probably much more common than reported. In children with ARF and microangiopathic anemia is necessary evaluated  complement factors as early to obtain an improved clinical response to treatment with eculizumab.

Keywords: atypical hemolytic uremic syndrome, acute renal failure, pediatric, eculizumab.

Sorry, this entry is only available in Italian.

Introduzione

La sindrome emolitico uremica atipica (aSEU) è una rara forma di microangiopatia trombotica dalle manifestazioni cliniche pleiotropiche. Essa è caratterizzata da insufficienza renale acuta (IRA), anemia emolitica (AE), piastrinopenia, assenza di Shiga-toxin nelle feci (a differenza della SEU tipica) e con livello di ADAMTS-13 superiore al 5%, contrariamente alla porpora trombotica trombocitopenica idiopatica con cui la aSEU presenta delle analogie (1). 

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