title: An atypical case of late-onset systemic lupus erythematosus with systemic lymphadenopathy and severe autoimmune thrombocytopenia/neutropenia mimicking malignant lymphoma.
abstract: 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.
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Keita
authors.initials: K
authors.lastname: Tamaki
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan. smorishi@med.u-ryukyu.ac.jp.
authors.forename: Satoko
authors.initials: S
authors.lastname: Morishima
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Sawako
authors.initials: S
authors.lastname: Nakachi
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Sakiko
authors.initials: S
authors.lastname: Kitamura
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Sachie
authors.initials: S
authors.lastname: Uchibori
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Shouhei
authors.initials: S
authors.lastname: Tomori
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Taeko
authors.initials: T
authors.lastname: Hanashiro
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Natsuki
authors.initials: N
authors.lastname: Shimabukuro
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Iori
authors.initials: I
authors.lastname: Tedokon
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Kazuho
authors.initials: K
authors.lastname: Morichika
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan.
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nishi
authors.affiliation: Department of Hematology, Heartlife Hospital, Nakagusuku, Okinawa, Japan.
authors.forename: Takeaki
authors.initials: T
authors.lastname: Tomoyose
authors.affiliation: Departments of Pathology and Cell Biology, Graduate School of Medicine, University of the Ryukyus, Nishihara, Okinawa, Japan.
authors.forename: Kennosuke
authors.initials: K
authors.lastname: Karube
authors.affiliation: Laboratory of Hematoimmunology, Faculty of Medicine, School of Health Sciences, University of the Ryukyus, Nishihara, Okinawa, Japan.
authors.forename: Takuya
authors.initials: T
authors.lastname: Fukushima
authors.affiliation: Division of Endocrinology, Diabetes and Metabolism, Hematology and Rheumatology (Second Department of Medicine), Graduate School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, Okinawa, 903-0215, Japan. hiroaki@med.u-ryukyu.ac.jp.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Masuzaki
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D000067562:Late Onset Disorders; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000175:diagnosis*; D000072281:Lymphadenopathy / Q000175:diagnosis; D008223:Lymphoma / Q000175:diagnosis; D008297:Male; D008875:Middle Aged; D009503:Neutropenia / Q000175:diagnosis; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis*; D016176:T-Lymphocyte Subsets
keywords: Autoimmune lymphoproliferative syndrome (ALPS); Malignant lymphoma; Severe autoimmune neutropenia (AIN); Severe autoimmune thrombocytopenia (ITP); Systemic lupus erythematosus (SLE); Systemic lymphadenopathy