Splenomegaly - An Important Cardinal Symptom

Important functions of the spleen include the sequestration of senescent and deformed erythrocytes as well as the detection of antigens, regulation of the immune response, and the defence against infections. A palpable, enlarged spleen is almost always pathological and a diagnostic work-Up is imperative. Splenomegaly may be caused by a wide range of conditions including common causes such as portal hypertension due to liver disease, haematological diseases such as lymphoma, myeloproliferative diseases, haemolytic anaemia and infections (e.g., infectious mononucleosis or malaria). Enlargement of the spleen is an important cardinal symptom in Felty's syndrome and Still's disease. In patients with haemochromatosis or sarcoidosis, the concomitant splenomegaly is frequently only mild and in connective tissue diseases enlargement of the spleen is rare. Important differenzial diagnoses of splenomegaly in children and adolescents include infectious diseases, anaemia, leukaemia, and lymphomas. Storage diseases, which usually occur in conjunction with pronounced splenomegaly, may be accompanied by neuropathological symptoms, bone involvement, dysmorphias, and enlargement of inner organs such as heart and liver. This group of diseases should be diagnosed during childhood or adolescence, as early diagnosis has become more important due the introduction of new therapeutic options. This is especially relevant for Gaucher's disease, the most common lysosomal storage disease. Other storage diseases that are accompanied by hepatosplenomegaly include Niemann-Pick type C disease, sphingomyelinase deficiency, aspartyl-glucosaminuria, sialic acid storage diseases, and cholesteryl ester storage disease.