Previously undiagnosed hereditary spherocytosis in a patient with jaundice and pyelonephritis: a case report

Abstract

BackgroundHereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild.Case presentationA 42-year-old Asian woman presented to our clinic with a sudden onset of high fever with shaking chills and jaundice, suggesting septicemia; however, following detailed investigation, the patient was diagnosed with pyelonephritis and accelerated hemolysis of hereditary spherocytosis due to infection.ConclusionsIt is important to note that transient anemia or jaundice can sometimes be the only initial presenting symptoms in cases of undiagnosed latent hereditary spherocytosis. This case also highlights the fact that physicians should consider concomitant hemolytic disease in patients in whom jaundice and infections that rarely cause jaundice coexist.

COVID‐19 and hereditary spherocytosis: A recipe for hemolysis

“…We present a 4-year-old male with a history of moderate HS and sickle cell trait without prior splenectomy who presented with infection is a well-known complication, it has only been described in the context of hydroxychloroquine toxicity in subjects with COVID-19. 13 Our patient emphasizes the necessity to follow patients at risk for hemolysis closely in the setting of COVID-19. There are reports of patients with sickle cell disease who were infected with COVID-19, however none have addressed the risk in patients with hemoglobin membrinopathies.…”

“…Patients and care providers are educated on the importance of monitoring for hemolysis during febrile episodes to avoid an array of complications from acute anemia. While hemolysis in patients with HS and viral infection is a well‐known complication, it has only been described in the context of hydroxychloroquine toxicity in subjects with COVID‐19 13 …”

A relevância da reticulocitose na classificação da esferocitose hereditária

“…Ademais, o paciente retorna ao serviço de hematologia anualmente para realizar exames de rotina e avaliar a estabilidade da hemólise. Esse controle anual se mostra eficaz e pode acontecer com menor espaço de tempo caso o paciente apresente infecção por parvovírus 19, dado que este pode desencadear uma aplasia medular, a qual deve ser devidamente controlada 10,7,14 .…”

“…A Esferocitose Hereditária (EH) não se revela como uma condição fatal, mas pode gerar alguns inconvenientes, sendo que as principais complicações da doença estão relacionadas à colelitíase 14,6 . Esta ocorre devido hemólise constante, a qual gera um aumento da concentração de bilirrubina indireta, que precipita dentro da vesícula biliar, culminando na formação de cálculos biliares 11,12 .…”

“…Esse quadro de litíase pode gerar complicações, como: pancreatite, colecistite ou colangite, o que revela a necessidade de uma colecistectomia. Além disso, outra comorbidade é a infecção por parvovírus 19, o qual pode levar a uma séria aplasia medular, exigindo transfusões sanguíneas 14,10 . O diagnóstico baseia-se na análise do hemograma completo, contagem de reticulócitos, esfregaço sanguíneo e teste de fragilidade osmótica.…”