An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma

• Published in: International journal of hematology Vol. 105; no. 4; pp. 526 - 531
• Main Authors: Tamaki, Keita, Morishima, Satoko, Nakachi, Sawako, Kitamura, Sakiko, Uchibori, Sachie, Tomori, Shouhei, Hanashiro, Taeko, Shimabukuro, Natsuki, Tedokon, Iori, Morichika, Kazuho, Nishi, Yukiko, Tomoyose, Takeaki, Karube, Kennosuke, Fukushima, Takuya, Masuzaki, Hiroaki
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.04.2017; Springer Nature B.V
• Subjects: Case Report; Diagnosis, Differential; Hematology; Humans; Late Onset Disorders; Lupus Erythematosus, Systemic - complications; Lupus Erythematosus, Systemic - diagnosis; Lymphadenopathy - diagnosis; Lymphoma - diagnosis; Male; Medicine; Medicine & Public Health; Middle Aged; Neutropenia - diagnosis; Oncology; Purpura, Thrombocytopenic, Idiopathic - diagnosis; T-Lymphocyte Subsets; Severe autoimmune thrombocytopenia (ITP); Malignant lymphoma; Systemic lupus erythematosus (SLE); Systemic lymphadenopathy; Autoimmune lymphoproliferative syndrome (ALPS); Severe autoimmune neutropenia (AIN)
• ISSN: 0925-5710; 1865-3774
• DOI: 10.1007/s12185-016-2126-8

Here, we report a rare case of systemic lupus erythematosus (SLE) with conspicuous manifestation of hematological abnormalities. At onset, the 52-year-old male patient showed systemic lymphadenopathy and splenomegaly, severe autoimmune thrombocytopenia, and autoimmune neutropenia. Bone marrow examination and lymph node biopsy excluded the possibility of malignant lymphoma. Based on laboratory findings, he was finally diagnosed with combined autoimmune cytopenia coupled with SLE. Atypical clinical manifestations of SLE prompted us to explore the possibility of autoimmune lymphoproliferative syndrome (ALPS). However, we did not detect an increased number of CD4 − /CD8 − , CD3 + , TCRαβ + double-negative T cells in the circulating blood or dysfunctional T cell apoptosis in the Fas/Fas ligand pathway due to mutations in the FAS , FASLG or CASP10 genes. Combined autoimmune cytopenia is a rare clinical entity that in some cases co-occurs with other autoimmune diseases. Given that most SLE patients presenting atypical hematological manifestations at an early stage subsequently exhibit typical systemic manifestations, the present case raises the possibility that initial hematological abnormalities may be signs of unexpected SLE manifestations.