VPB0795 - Reviewing atypical Hemolytic Uremic Syndrome in a portuguese terciary hospital

Background: Atypical Hemolytic-uremic syndrome (aHUS) is a rare clinical syndrome whose diagnosis is based on the combination of clinical evaluation, biochemical findings and genetic testing.
It develops with thrombocytopenia, microangiopathic hemolytic anemia, renal injury and non-specific symptoms.
Nowadays, Eculizumab is an specific treatment for aHUS that should be considered in case of renal failure and after exclusion of other Thrombotic Microangiopathies (TM), namely Thrombotic Thrombocytopenic Purpura and infection by Shiga-Toxin producing Escherichia Coli.

Aims: This review intends to characterize the management of aHUS at our center aiming the optimization of early recognition, diagnosis and treatment of aHUS.

Methods: This retrospective study based on the evaluation of all the patents coded as aHUS at our hospital between 2017 and 2021.

Results: Five presumed cases were identified – three females and two males, aged between 33-75 (mean of 48 years). In all cases the onset was abrupt, mainly identified by analytical changes and few clinical relavants signs, despite fluctuating neurological symptoms in two patients. One patient had a previous asymptomatic Coronavirus Disease 2019. Platelets ranged from 30.000-135.000/microliter, hemoglobin ranged from 7,7- 12,8 grams per deciliter and renal dysfunction occurred with creatinine levels between 2.8 - 6.9 miligram/deciliter.
The therapeutic approach varied according to disease's severity and patient outcome. Three patients were submitted to Therapeutic Plasma Exchange (TPE). The number of TPE varied from 3-12 sessions. Eculizumab was administered in two patients, as the other three had substantial clinical improvement before molecular results that led to Eculizumab request. This drug availability has few obstacles at our center. No patient had died, however two patients are now hemodialysis dependent.

Conclusion(s): Further characterization of future cases is imperative to better understand this condition and it urges the implementation of protocols to optimize general practice in TM assistance and to avoid misdiagnosis of such rare diseases that need a specific approach.