Major signs outlined in initiative for rare Gaucher disease

Unexplained splenomegaly is one of the major signs that should raise the level of suspicion for Gaucher disease, according to an international panel of experts.

The Gaucher Early Diagnosis Consensus Initiative aims to reduce the diagnostic delay typically associated with a disease that is rare, heterogeneous and suffers from a poor level of awareness.

The Initiative reports that leukaemia, lymphoma and multiple myeloma are considered the most likely diagnoses in patients presenting with typical signs of Gaucher disease.

However Gaucher disease should be included in the differential diagnosis when patients present with two or more of the major signs including splenomegaly, hepatomegaly, anaemia, thrombocytopenia, gammopathy, bone pain, kyphosis and disturbed oculomotor function.

“There was 100% consensus that splenomegaly was a major sign of both type 1 and type 3 Gaucher disease, and splenomegaly was the single most-often-reported Gaucher disease sign among abstracts identified in our literature search,” the panel said.

Covariables were a family history of disease in both type 1 and type 3 Gaucher disease and Jewish ancestry for type 1 disease.

The panel agreed that mild signs can be easily overlooked however the impact of an earlier diagnosis was to ‘reduce serious or irreversible late-onset complications’.

‘Untreated patients with Gaucher disease may have reduced quality of life relative to population norms, and the clinical benefits of enzyme replacement and substrate reduction therapies in treatment-naïve patients with Gaucher disease are well established.”

Earlier diagnosis would also allow family planning and genetic counselling to be offered earlier.

Expert panel member Professor Jeff Szer, from the Clinical Haematology and Bone Marrow transplant Service at Royal Melbourne Hospital, told the limbic the condition was exceedingly rare.

“Even people who work in institutions with the highest incidence of it in the world and who have been involved in studies of the disease, never think of it primarily.”

However not including it in the differential diagnoses risked patients having unnecessary or invasive tests and procedures such as bone marrow biopsies or splenectomy.

“My argument has always been that anyone can work out the common conditions, our job is actually to be aware of things that are uncommon so as not to miss them.”

“Awareness of rare diseases, and particularly in specific populations, can save the patients time and irreversible complications. The major things we are trying to protect these patients from are unnecessary surgical procedures and irreversible complications which in the case of Gaucher disease rarely would be bleeding but more commonly irreversible bone changes.”

“Early diagnosis and early institution of therapy will help to preclude those things.”

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