The Management of Neuronopathic Gaucher Disease: A European Consensus


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A paper on The Management of Neuronopathic Gaucher Disease was published in the Journal of Inherited Metabolic Disease in June 2001. The consensus was developed by the Neuronopathic Gaucher Disease Task Force, a group of doctors from the European Working Group on Gaucher Disease who specialise in this form of the disease. The following is an edited version of the article prepared by Dr Ashok Vellodi and Tanya Collin-Histed.


In Greece in May 1999 a proposal was put forward for a consensus to be developed to provide an approved protocol recommending how sufferers with neuronopathic Gauchers disease should be clinically managed.

The consensus hopes to serve as a resource enabling health profes-sionals, patients and families to optimise care for individuals with neuronopathic Gauchers disease.

The results and recommendations of the Consensus were made by the Task Force using experience of treating over 70 patients from its members' centres and world literature.

The recommendations will be sub-jected to rigorous review at regular intervals as fresh evidence becomes available.

Definition

Neuronopathic Gaucher disease can be defined as the presence of neurological involvement in a patient with bio-chemically proven Gauchers disease for which there is no explanation other than Gauchers disease.

Classification

The terms Type 2 and Type 3 Gauchers disease should be dropped as they fail to take account of the spectrum of phenotypes (symptoms). In other words there are some patients who do not fit neatly into either category. Instead, the terms acute and chronic neuronopathic Gauchers disease should be used.

Acute neuronopathic Gaucher disease refers to the onset at less than one year of age of progressive stridor (constriction of the large tubes within the lungs, mainly the trachea), squint and swallowing difficulties. Other involvement including spasticity, head retroflexion and cognitive im-pairment may or may not be present. Sufferers have a poor prognosis and normally do not survive past the age of two. Depending on the severity of involvement, further subdivision into types A and B is proposed.

Chronic neuronopathic Gaucher disease refers to all patients with Gauchers disease who do not have the acute form. Further subdivision into different types does not take into account the many different variations that are now being described.

Monitoring

A full neurological assessment should be performed if:

The Task Force recommends protocols (procedures) for initial neurological assessment and subsequent neuro-logical monitoring. These represent minimum clinical protocols and attempts to utilise generally available, cost effective technology, whist yielding the greatest possible amount of clinically relevant data at the same time. A complete list of the initial assessment and subsequent monitoring can be found via the Gauchers Association UK Website (see end of this article for link).

Treatment

Enzyme replacement therapy has demonstrated an excellent safety profile and there is clear evidence that it improves systemic involvement in both non-neuronopathic and neuronopathic Gaucher disease, enhancing quality of life.

There is also preliminary evidence that enzyme replacement therapy has reversed, stabilised or slowed the progression of neurological involvement in some patients.

This includes: diminished ataxia (unsteadiness); IQ increased markedly; disappearance of severe headaches and epilepsy stayed under control despite withdrawal of anti-epileptic medication in one patient.

In patients with established acute neuronopathic disease, enzyme re-placement therapy has had little effect on the progressively downhill course.

Preliminary evidence suggests that a dose of 120 units per kilogram of bodyweight given intravenously every two weeks may be more effective than a dose of 60 units per kilogram every two weeks. The full Consensus article outlines a number of cases which provides support for a dose of 120 units per kilogram every 2 weeks.

The Consensus also recognises other treatments such as complete or partial splenectomy and bone marrow transplant.

Patient/Family Counselling and role of Patient/Family Organisations

The Consensus recognises the important role that Patient/Family organisations can play for families of patients at high risk or with establish-ed neuronopathic Gaucher disease by:

Proving support and information to newly diagnosed patients.

Working closely with treating physicians to provide feedback and support to each other in order to maximise the management of neuronopathic Gauchers disease.

Through the development of the consensus it is hoped that increased data will be available to regularly review the management of neuro-nopathic Gauchers disease, improving the clinical care and quality of life of patients and their families.


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Source: Gauchers News March 2002.
© Copyright Gauchers Association 2002