Autoimmune lymphoproliferative syndrome (ALPS): Management and prognosis
- Jack JH Bleesing, MD, PhD
Jack JH Bleesing, MD, PhD
- Professor of Pediatrics
- Cincinnati Children's Hospital Medical Center
Autoimmune lymphoproliferative syndrome (ALPS) is a rare primary immune disorder characterized by dysregulation of the immune system due to an inability to regulate lymphocyte homeostasis through the process of lymphocyte apoptosis (a form of programmed cell death).
This topic reviews management of ALPS. The epidemiology, genetics, pathogenesis, clinical manifestations, laboratory findings, diagnosis, and differential diagnosis of ALPS are discussed separately. (See "Autoimmune lymphoproliferative syndrome (ALPS): Epidemiology and pathogenesis" and "Autoimmune lymphoproliferative syndrome (ALPS): Clinical features and diagnosis".)
Management of ALPS focuses upon three aspects: treatment of disease manifestations, treatment/prevention of complications arising from the disease and its treatment, and curative therapy [1,2]. Most experience is confined to patients with ALPS-FAS, for whom lymphoproliferative disease begins early in life and tends to become less frequent in adolescence and adulthood. The development of autoimmune disease changes the therapy needed as well as the prognosis.
Evaluation and monitoring following initial diagnosis — The presence and extent (disease manifestations and disease burden) of lymphoproliferation and/or autoimmunity should be determined before initiating therapy in an individual newly diagnosed with ALPS or suspected to have ALPS.
This can be achieved with a combination of physical examination, imaging studies (eg, computed tomography [CT] scan and/or positron emission tomography [PET] scans) of body areas thought to be involved (typically neck, chest, abdomen, and pelvis), and laboratory evaluation that includes measuring the size of the circulating alpha beta double-negative T (DNT) cell compartment, the levels of serum biomarkers (eg, vitamin B12, interleukin [IL]-10, Fas ligand [FasL]), blood counts, and the presence and nature of autoantibodies (eg, directed against blood cells). In patients deemed to need immunosuppressive therapy, one should also initiate a basic investigation of the integrity of immune system, particularly in young patients. (See "Laboratory evaluation of the immune system".)
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