Recurrent Hereditary Polyserositis or Familial Mediterranean Fever: An Overview

Abstract

The etiology and pathogenesis of recurrent hereditary polyserositis (RHP) remain undetermined. There is a good evidence for a genetic basis (transmission being by a recessive Mendelian mode of inheritance), but not all cases have a family history and an infective (or other environmental) components has not been excluded. The marked variation in presentation and complications (in particular the prevalence of amyloid deposition) in different series suggests that this might not be a homogeneous entity. Vascular involvement is a basic prerequisite for the periodic attacks, and evidence for transient immunological abnormalities is incontrovertible. There are no reliable diagnostic techniques. Colchicine is of value in treatment, but its mode of action is unclear. More macro- and microepidemiological studies are required and will be of paramount importance. Clinical observations and molecular genetic studies should address the possibility that two or more immunological or metabolic defects might be interwoven; why for example do only some affected groups develop AA amyloidosis? Simple, non-invasive diagnostic tests are required for the uncomplicated disease and also for the presence of amyloid deposition. Preventive strategies might eventually involve genetic engineering techniques, but in the immediate future, education of doctors and other health care workers - to raise the "index of awareness" of RHP, in order that colchicine treatment can be commenced early in the disease - forms an important strategy. Colchicine therapy is not without complications and an alternative chemotherapeutic agent should be sought.