Table 4.

Summary of major signs and covariables of relevance in early Gaucher disease

Major signs

Gastroenterological

Splenomegaly†

Hepatomegaly‡

Orthopaedic

Bone pain§

Kyphosis

General medical

Hyperferritinaemia‡

Haematological

Anaemia‡

Thrombocytopenia‡

Gammopathy

Neurological¶

Slow horizontal saccades with unimpaired vision

Impairment of primary motor development

Myoclonus epilepsy

Covariables

Jewish ancestry

Family history of GD

GD should be included in differential diagnosis if two or more of these factors are present and unexplained, particularly if one factor is splenomegaly. The more signs and co‐variables that are present, the greater would be the suspicion of GD.

^† Typically this would be unexplained spleen enlargement of at least threefold, but spleen enlargement of less than threefold would not necessarily exclude GD.

^‡ Mild or moderate deviation from normal is most commonly seen with these signs in GD, but severe deviation would not exclude GD.

^§ Bone pain is more common in early GD than are more severe bone issues such as avascular necrosis or fractures, but the presence of the latter may indicate that GD is already advanced.

^¶ Neurological signs generally only manifest in type 3 disease but are often preceded by the systemic signs listed.

GD, Gaucher disease.