This is intended for HCPs practicing in Great Britain (England, Scotland and Wales) only.
Gaucher Mechanism of disease video aims to explain how Gaucher Disease affects the cellular function of patients and how this impacts organ functionality

GAUCHER

RARE-DISEASE

Gaucher Mechanism of Disease

Gaucher Mechanism of disease 

<h2>Managing patients with Gaucher disease</h2>
Managing your patients’ diagnosis doesn’t stop once they’ve received their results. Regardless of their test outcomes, knowing the next steps in their treatment journey can prepare them for the next stages.
<h3>Handling a positive result</h3>
Being diagnosed with Gaucher disease can be a life-changing experience for a patient and may take some time to process. During the early stages after diagnosis, it is important to keep in contact with the patient and ensure they have as many support resources as they need.

<h2>Referral</h2>
Following diagnosis, a patient with confirmed Gaucher disease should be referred to a specialist centre for treatment.
<h3>There are 13 specialist centres across the UK and Ireland, across 8 cities</h3>

<ol>
 <li>Glasgow:&nbsp;Scottish Centre for Metabolic Diseases, Inherited Metabolic Disorders Scotland Managed Clinical Network</li>
 <li>Belfast:&nbsp;Royal Victoria Hospital for Sick Children (Genetics Department) Belfast:&nbsp;Northern Ireland Centre for Metabolic Diseases, Belfast City Hospital (Adult)</li>
 <li>Dublin:&nbsp;National Centre for Metabolic Diseases, Children’s University Hospital</li>
 <li>Manchester:&nbsp;Willink Unit, Royal Manchester Children’s Hospital (Paediatrics) Manchester:&nbsp;The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust (Adult)</li>
 <li>Birmingham:&nbsp;Inherited Metabolic Disorders Service, Birmingham Children’s Hospital (Paediatrics) Birmingham:&nbsp;Department of Inherited Metabolic Disorders, University Hospital Birmingham (Adult)</li>
 <li>Cambridge:&nbsp;Lysosomal Disorders Unit, Addenbrookes Hospital (Adult)</li>
 <li>Cardiff:&nbsp;Welsh Centre for Metabolic Diseases, Inherited Metabolic Diseases Service University Hospital Wales</li>
 <li>London:&nbsp;Lysosomal Storage Disease Unit, Great Ormond Street (Paediatrics) London:&nbsp;Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery (Adult) London:&nbsp;Lysosomal Storage Disorders, The Royal Free Hospital (Adult)</li>
</ol>

<h2>Genetic Counselling</h2>
As a heritable disorder, genetic counselling for patients with Gaucher disease can help them plan for their future.
Patients can:
<ul>
 <li>Learn more about a health condition that runs in their family, how it’s inherited, and which family members may be affected</li>
 <li>Assess the risk of passing Gaucher disease onto their child</li>
 <li>Access information about relevant support groups</li>
</ul>

Gaucher disease Management and Specialist Treatment Centres

Welcome to the Gaucher Disease Expert Hub page, where you can find videos and resources for your information on the diagnosis and treatment of Gaucher Disease.

Prescribing information can be found via the links at the bottom of this page.

Gaucher Talking Heads Video &ndash; Dr Mohsen Norouzi

Gaucher Talking Heads Video &ndash; Professor Tim Cox

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 <a href="${link:{uuid:{3d19662e-388b-4997-9525-48f2f0b5054c},repository:{dam},path:{/Portal/UK/Prescribing-links/Cerdelga-PI-GB-November-2023--1-.pdf}}}" target="_blank">Prescribing Information GB</a> <a href="${link:{uuid:{eddd0e2c-bdbd-4b60-a4e0-8326887ad1ee},repository:{dam},path:{/Portal/UK/Prescribing-links/Cerdelga-PI-IE-NI-Aug-2023.pdf}}}" target="_blank">Prescribing Information NI</a>
 MAT-XU-2204064&nbsp;(v3.0) 
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</table>

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 MAT-XU-2204065&nbsp;(v3.0) 
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A selection of short videos giving greater insight into how to spot Gaucher Disease

Gaucher Disease Expert Hub

<h2>Early diagnosis is key</h2>
The early diagnosis and treatment of Gaucher disease are essential to prevent or reverse severe disease complications.1,2&nbsp;However, when Gaucher is missed, a patient can remain untreated for up to 10 years.2
If left untreated, Gaucher disease can lead to:1,2
<ul>
 <li>Premature death from bleeding complications</li>
 <li>Pulmonary hypertension</li>
 <li>Liver disease</li>
 <li>Sepsis</li>
 <li>Growth failure</li>
 <li>Complications arising from advanced bone disease</li>
 <li>Impact on quality of life</li>
</ul>

Haematologists play a pivotal role in diagnosis. In a survey of 136 Gaucher patients in the US, Australia and New Zealand:2
<ul>
 <li>86% were seen by a haematologist-oncologist in pursuit of a diagnosis in the US</li>
</ul>

In Australia and New Zealand, 73% of patients were seen by a haematologist-oncologist to obtain a diagnosis. However, a survey of over 400 haematology-oncologists in the US, Australia and New Zealand revealed that:2
<ul>
 <li>80% do not consider Gaucher disease in their differential diagnosis.</li>
</ul>

Splenomegaly and thrombocytopenia are common symptoms of Gaucher disease.3
A recent Italian study found that in patients presenting with either of these symptoms, in addition to one other specified ancillary sign of Gaucher disease, the prevalence rate of Gaucher Type 1 was found to be 3.6%.4
Simple and effective diagnostic algorithms, such as the Cappellini protocol, make it easier to identify patients with suspected Gaucher disease.1

<h3>Diagnostic algorithm for Gaucher disease type 1 in individuals of non-ashkenazi Jewish origin</h3>

Figure adapted from Mistry, P. K.,&nbsp;et al.&nbsp;2011.&nbsp;Am J Hematol&nbsp;86(1): 110–115.1
* Acid-β-glucosidase enzyme activity assay 
 ** Monoclonal gammopathy of undetermined significance

Diagnosis of Gaucher disease

<h2>Rare but not so rare</h2>
Although considered a rare disease in the general population, the prevalence of Gaucher disease is significantly higher in specific patient groups.1
Think Gaucher disease when considering the following:
<ul>
 <li>
 Patients presenting with splenomegaly and/or thrombocytopenia</li>
 <li>
 Patients with family members affected by Gaucher disease</li>
 <li>
 Patients of Ashkenazi Jewish descent</li>
</ul>
Although the disease can affect anyone of any ethnicity, there is a high prevalence of Gaucher disease in certain ethnic backgrounds. Notably those of Ashkenazi Jewish descent have a disease prevalence of approximately 1 in 800.2
Approximately 1 in every 15 people of Ashkenazi descent is a carrier of Type 1 Gaucher disease.1 Therefore it is important to test close family of patients from this background.

As an autosomal recessive disorder, a carrier of Gaucher disease has a 50% chance of having a child which carries the Gaucher gene. If both parents are carriers, there is a 25% chance that the child will be affected with Gaucher disease. If your patient has an immediate relative who has been diagnosed with Gaucher disease, it is important to order a blood test straight away.

Epidemiology of Gaucher disease

Gaucher Talking Heads Video

Gaucher Talking Heads Video - Dr Mohsen Norouzi

<h3>Speaker:</h3>
Dr Mohsen Norouzi&nbsp;–&nbsp;Consultant Haematologist, James Cook University Hospital, Middlesbrough
<h3>Learning Objectives:</h3>
Dr Mohsen Norouzi discusses diagnosing a rare metabolic disorder within a Haematology setting

<h2>What to look out for</h2>
The signs of Gaucher disease may look similar to other haematological malignancies. Rule out Gaucher disease in patients who present with these symptoms.
Four key symptoms to look out for are:1
<ul>
 <li>
 Splenomegaly</li>
 <li>
 Thrombocytopenia</li>
 <li>
 Hepatomegaly</li>
 <li>
 Bone pain</li>
</ul>

<h2>What to look out for</h2>
The journey to diagnosis can be a challenge. However, there are some key symptoms and signs to look out for:2,3

Gaucher symptoms prevalence data from Charrow J et al. Arch Intern Med. 2000. 160:2835–2843.3

When considering patients with these symptoms, where malignancy has been ruled out, think Gaucher disease.3–20

Signs and Symptoms of Gaucher disease

Gaucher disease can be classified into three types, which make a phenotypic continuum ranging from mild to severe nervous symptoms.2–4&nbsp;The classic categories of types 1, 2, and 3 have blurred edges along the continuum of the disease.

Adapted from Sidransky E, 2004.&nbsp;Mol Genet Metab.&nbsp;83(1–2):6–15.3

The table summarises aspects of Gaucher disease according to the three different types.1,5

<table>
 <tbody>
 <tr>
 <td style="background-color:#525ca3">&nbsp;</td>
 <td style="background-color:#525ca3">Type 1 Non neuronopathic(≥1/100 to &lt;1/10)</td>
 <td style="background-color:#525ca3">Type 2 Acute neuronopathic (≥1/100 to &lt;1/10)</td>
 <td style="background-color:#525ca3">Type 3 Chronic neuronopathic (≥1/100 to &lt;1/10)</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Prevalence</td>
 <td style="background-color:#e6edf9">1:50,000 – 1:100,000 (pan-ethnic) 
 1:850 (Ashkenazi Jews)</td>
 <td style="background-color:#e6edf9">&lt; 1:150,000 (pan-ethnic)</td>
 <td style="background-color:#e6edf9">&lt; 1:150,000 (pan-ethnic)</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Age at presentation</td>
 <td style="background-color:#e6edf9">Any</td>
 <td style="background-color:#e6edf9">Infancy</td>
 <td style="background-color:#e6edf9">Childhood</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Lifespan</td>
 <td style="background-color:#e6edf9">Variable</td>
 <td style="background-color:#e6edf9">&lt; 2 y</td>
 <td style="background-color:#e6edf9">&lt; 40 y</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Primary CNS disease</td>
 <td style="background-color:#e6edf9">None</td>
 <td style="background-color:#e6edf9">Severe</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Hepatosplenomegaly</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 <td style="background-color:#e6edf9">Severe</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Haematologic 
 abnormalities</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 <td style="background-color:#e6edf9">Severe</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 </tr>
 <tr>
 <td style="background-color:#e6edf9">Osseous symptoms</td>
 <td style="background-color:#e6edf9">Mild to severe</td>
 <td style="background-color:#e6edf9">None</td>
 <td style="background-color:#e6edf9">Mild to moderate</td>
 </tr>
 </tbody>
</table>

Gaucher disease is one of the most common lysosomal storage disorders, affecting an estimated 1 in 40,000 to 1 in 100,000 people around the world.1 It can be diagnosed at any age from infancy to late adulthood. It is an inherited deficiency of the lysosomal enzyme acid-β-glucosidase (glucocerebrosidase, GBA1), which results in the accumulation of glucocerebroside within lysosomes of macrophages.1

What is Gaucher disease?

Gaucher Talking Heads Video - Professor Tim Cox

&nbsp;Professor Tim Cox&nbsp;–&nbsp;Consultant Physician, Addenbrooke’s Hospital, Cambridge

Professor Tim Cox provides a guide to Gaucher Disease and the importance of testing for Haematologists

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Gaucher

Latest Articles

Gaucher Mechanism of Disease

Gaucher disease Management and Specialist Treatment Centres

Gaucher Disease Expert Hub

Diagnosis of Gaucher disease

Epidemiology of Gaucher disease

Gaucher Talking Heads Video

Signs and Symptoms of Gaucher disease

What is Gaucher disease?

Gaucher Talking Heads Video