Coexistent sickle-cell anemia and autoimmune disease in eight children: pitfalls and challenges

Abstract

BackgroundPatients with sickle cell disease (SCD) present a defective activation of the alternate complement pathway that increases the risk of infection and is thought to predispose to autoimmune disease (AID). However, coexisting AID and SCD is rarely reported, suggesting possible underdiagnosis due to an overlapping of the symptoms.Study designAmong 603 patients with SCD followed between 1999 and June 2016, we retrospectively searched for patients with coexisting SCD and AID.ResultsWe identified 8 patients aged from 7 to 17 years diagnosed with AID; juvenile idiopathic arthritis (n = 3), systemic lupus erythematosus (n = 2), Sjögren’s syndrome (n = 1) and autoimmune hepatitis (n = 2). The diagnosis of AID was often delayed due to similarities of the symptoms with those of SCD. Patients treated with steroids experienced multiple vaso-occlusive crises and received prophylactic chronic blood transfusions when it was possible. Tolerance to other immunosuppressive and biological treatments, such as anti-TNF agents, was good. A remission of AID was achieved in 4 patients, without worsening the course of the SCD. One patient underwent a geno-identical hematopoietic stem cell transplantation that cured both diseases. Another one underwent a successful liver transplantation.ConclusionCoexistence of AID and SCD generates diagnostic and therapeutic challenges. Early diagnosis of AID is important to define the best treatment, which may include targeted biological therapy.

Innate-like T cells in children with sickle cell disease

“…Moreover, IL-17 is a potent activator of the endothelium and can induce the expression of endothelial adhesion markers such as E-selectin, VCAM-1, and ICAM-1, which are known as major contributors to SCD pathophysiology [3, 5, 36]. Finally, IL-17 is involved in the pathogenesis of several autoimmune diseases, whose frequency seems to be increased in SCD [37, 38]. It has been previously suggested that IL-17 could represent a marker of SCD severity, as decreased IL-17 plasma levels have been observed in hydroxyurea-treated patients [9].…”

Optimizing the management of chronic pain in sickle cell disease

“…9,10 Although not well documented in the literature, comorbid autoimmune disorders observed in patients with SCD include RA, 11 autoimmune hepatitis, 12 Crohn's disease, 13 myasthenia gravis, 14 and juvenile idiopathic arthritis. 15 Clinicians should inquire about a family history of autoimmune disorder and document symptoms that may be suggestive of one, such as alopecia, generalized fatigue, rashes, and pain in multiple joints or involving both large and small joints. If symptoms are suggestive, screening for laboratory markers of autoimmunity, such as antinuclear antibody titers, C-reactive protein, and erythrocyte sedimentation rates, will help guide appropriate rheumatology referral.…”

Promoção da saúde nutricional em adolescente com doença falciforme: Estudo de caso único

“…Cerca de 5% da população mundial carrega um gene responsável por anomalia de hemoglobina, sendo que esta prevalência pode chegar a 25% em determinadas regiões (Dahmani et al, 2016;Li-thiao-te et al, 2018). Pelo fato de a doença ser de caráter ancestral e étnico, alguns indicadores de nascimento, mortalidade e morbidez demonstram maior prevalência, geralmente na população de negros, pardos e afrodescendentes (Santos et al, 2019).…”

“…Além das manifestações crônicas, alguns episódios agudos podem ocorrer, como as crises vaso-oclusivas recorrentes, hemolíticas, de sequestro esplênico e dolorosas, com o tempo, podem ocorrer danos aos órgãos. Portadores de DF apresentam uma ativação defeituosa da via alternativa do complemento, levando a um risco aumentado de infecção pela função imunológica comprometida (Mandese et al, 2016;Wasnik & Akarte, 2017;Li-thiao-te et al, 2018). Um quadro clínico grave da DF é marcado pela alta frequência de transfusão precoce, complicações infecciosas graves, condição inflamatória constante, caracterizada por elevação das proteínas inflamatórias e estado nutricional comprometido (Dahmani et al, 2016).…”