ATYPICAL HAEMOLYTIC URAEMIC SYNDROME PRESENTING AS REFRACTORY HYPERTENSION AND HAEMOLYSIS IN A HAEMODIALYSIS PATIENT

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https://storage.unitedwebnetwork.com/files/1099/37fb129f912934b772e1a0aeb8c05bfe.pdf

Abstract Title

First Name *

Raymond

Last Name *

Lin

Co-author 1

Nikki Lee Anne Wong nikki.wong1@health.nsw.gov.au Nepean Hospital - NSW Health Nephrology Sydney

Co-author 2

Eddy Ronald Fischer eddy.fischer@health.nsw.gov.au Nepean Hospital - NSW Health Nephrology Sydney

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Introduction

Atypical haemolytic uraemic syndrome (aHUS) is a thrombotic microangiopathy (TMA) commonly manifesting as acute kidney injury, microangiopathic haemolytic anaemia and thrombocytopaenia. In the presence of end-stage kidney disease, the diagnosis of aHUS is more challenging. Refractory hypertension is a known manifestation of aHUS but the presence of end-stage kidney disease (ESKD) may confound the diagnostic pathway.

Methods

A 24-year-old female on haemodialysis presents with refractory hypertension and intravascular haemolysis, with neurological and cardiovascular involvement. Refractory hypertension was believed to be a consequence of ESKD, and intravascular haemolysis was attributed to malignant hypertension and endothelial cell dysfunction. Genetic screening for aHUS subsequently revealed a heterozygous deletion of CFHR1/CFHR3, associated with an increased risk of aHUS, leading to therapy with eculizumab.

Results

Prior to eculizumab therapy, hypertension was severe (200/110mmHg) despite combination anti-hypertensive therapy (angiotensin receptor blocker, calcium channel blocker, beta-blocker, alpha-1 blocker, central alpha-2 agonist). The patient was anaemic (Hb 70-80g/L) with persistent thrombocytopaenia (<90x109/L), undetectable haptoglobin and elevated lactate dehydrogenase (LDH) (300-400U/L). MRI-brain demonstrated extensive confluent areas of deep white matter hyperintensity consistent with posterior reversible encephalopathy syndrome (Figure 1A) and echocardiogram revealed left ventricular hypertrophy and diastolic dysfunction. Following administration of eculizumab, platelet count, haemoglobin, haptoglobin and LDH normalized by week 8-12 (Figure 2). Blood pressure on haemodialysis improved to 140/90mmHg, allowing dose reduction and cessation of 2 agents within 8 weeks. Serial MRI-brain at 5-months post-therapy demonstrated significant resolution of periventricular and subcortical white matter hyperintensities (Figure 1B). The patient is on the waiting list for kidney transplantation.

Conclusions

A diagnosis of TMA and aHUS should be considered in chronic dialysis patients presenting with refractory hypertension and intravascular haemolysis. Genetic screening for aHUS, if available, can be a valuable tool to aid diagnosis. Normalization of blood pressure and haemolysis markers may take months following eculizumab although recovery of thrombocytopaenia may occur earlier and be a marker of response. Eculizumab can reverse neurological and cardiovascular changes associated with aHUS.

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