Familial splenomegaly syndrome with reduced circulating T helper cells and splenic germinal centre hypoplasia

Familial splenomegaly is a rare occurrence and is occasionally associated with immune abnormalities. We report three members of a family with massive splenomegaly associated with a reduction in circulating T helper cells, a reversed T4/T8 ratio and cutaneous anergy. The spleen and lymph nodes were shown in one family member to have germinal centre hypoplasia with T helper cells being present in normal numbers and distribution in these tissues. Various abnormalities of immunoglobulins were also noted. Despite the demonstrated immune abnormalities, the affected subjects showed few serious consequences. The pathogenesis of this disorder is unclear but we postulate it may involve a functional defect of the T helper cell. This defect probably is responsible both for the diminished circulating capacity of T helper cells as well as a reduced ability to aid in the formation of germinal centres.