What are the signs and symptoms of autoimmune lymphoproliferative syndrome (ALPS)?

Updated: Jul 29, 2019
  • Author: Akaluck Thatayatikom, MD, RhMSUS; Chief Editor: Harumi Jyonouchi, MD  more...
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The initial presentations of ALPS include persistent lymphadenopathy (>95%) or splenomegaly (>90%) followed by autoimmune cytopenias (>70%) such as autoimmune hemolytic anemia, idiopathic thrombocytopenic purpura (ITP), and hepatomegaly (50%) in an otherwise healthy child. [15, 16] To meet the case definition of ALPS, a patient must have chronic, nonmalignant lymphadenopathy or splenomegaly that lasts for 6 months or longer.

Associated multilineage cytopenias due to autoantibodies or splenic sequestration can lead to petechiae, bleeding, pallor, icterus, fatigue, and recurrent infections; the latter are mostly due to neutropenia. A family history of similar disorders may be noted; these are usually inherited in an autosomal dominant fashion. A thorough review of a patient’s extended family for a history of adenopathy, cytopenias, splenectomies, or lymphoma can provide clues in diagnosing ALPS.

Careful attention to the development of systemic B symptoms (eg, fever, drenching night sweats, pruritus, and weight loss) is important for cancer surveillance in those at high-risk for B cell lymphoma. Some of the patients may develop other specific organ autoimmunity or systemic autoimmune diseases such as autoimmune hepatitis, glomerulonephritis, uveitis, and Guillain-Barre syndrome.

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