Suspected systemic rheumatic diseases in patients presenting with cytopenias

Abstract

Cytopenias may herald or concur with the onset of various systemic rheumatic diseases. Accordingly, patients with reduced blood cell counts are often referred for possible underlying autoimmune disease. Initial evaluation aims to exclude nonrheumatic causes such as drug toxicity, infections, or hematological/myelopoiesis disorders. Patient interview and physical examination are critical to unravel features related to or suggestive of rheumatic disease. Based on the clinical scenario, targeted immunological testing may provide additional diagnostic insights. Yet, not all patients may present with full-fledged, criteria-classified disease at early stages. Accordingly, physicians should have a high index of suspicion for individuals who present with a combination of immune/inflammatory cytopenia(s) and relevant clinical (e.g., synovitis) and/or serological manifestations, even if these are few in number or nonspecific (e.g., ANA). Ongoing studies in preclinical or early autoimmunity cohorts could lead to the discovery of diagnostic biomarkers applicable also to patients with cytopenias and suspected rheumatic disease.

Keywords: Anemia; Antiphospholipid antibodies; Autoimmune disease; Bone marrow; Immunological tests; Leukopenia; Lupus; Lymphopenia; Neutropenia; Thrombocytopenia.