The UK NSC recommendation on Gaucher disease screening in newborns
Find general information about population health screening.
Why is screening not recommended by UK NSC?
National universal screening for Gaucher disease was not recommended because there are a number of uncertainties with Gaucher disease; specifically around predicting how severely an individual, detected through screening, might be affected by the condition. It is not currently possible to identify who will be severely affected by the condition and who will never experience any problems.
It is unclear whether earlier treatment following a screening test would be more beneficial than current medical practice of identification and treatment when symptoms develop.
More about Gaucher disease
Gaucher disease is the most common of a group of conditions called lysosomal storage diseases. It is a rare inherited condition caused by a faulty or missing enzyme (a chemical found naturally in the body) used to break down fatty substances from cells. The part of certain cells affected is called the lysosome and the condition leads to the build-up of a fatty substance in cells and organs that become swollen.
The age and severity of symptoms for people with Gaucher disease vary significantly but typical symptoms include bruising, fatigue, low levels of substances needed in the blood (iron and platelets) and enlarged organs such as the liver, spleen, bone and lungs.
If left untreated the condition can cause multiple problems and in rare, more severe cases can be fatal for newborn babies and infants. There is no cure for the condition but the most common treatment is enzyme replacement therapy and this can often limit the effects of Gaucher disease.
• British Inherited Metabolic Disease Group
The stakeholder groups will be involved when the recommendation is next reviewed. If you think your organisation should be added, please contact us. More information for stakeholders can be found in appendix C of the UK NSC evidence review process.
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