Arthralgia and limb pains: Pseudo-rheumatoid genetic disorders

Limb and joint pains can be the manifestation of many infectious, autoimmune or genetic disorders of the bones and joints. In addition, it may also be the manifestation of many genetic or non-genetic disorders of other systems. The monogenic disorders manifesting with joint and limb pains need to be suspected when the rheumatologist concludes that the disorder does not fit the pattern of a specific rheumatic disease. The accurate diagnosis is important as specific treatments are available for some genetic disorders. Diagnosis of genetic disorders also has implications for the family and indicates the need for genetic counselling. In this article, the various situations where a genetic cause for limb and joint pains need to be suspected are discussed. In addition, there is a brief review of some monogenic disorders which often present to the rheumatologist as joint disease.