LSDs are progressive conditions and the signs and symptoms depend on the enzyme affected. For example, in Gaucher disease, which affects 1 in 40 000 people, the enzyme glucocerebrosidase is deficient, leading to a build-up of glucocerebroside in cells - in particular macrophages which are cells that form part of the immune system.
Over time, glucocerebroside collects in organs like the liver, spleen and bone marrow and sometimes the lungs The bone marrow stops functioning properly resulting in poor red blood cell production (anemia), increased bleeding tendency, limited bone growth and fractures.
Once organ damage has occurred this is often irreversible even with treatment. The earlier LSDs are diagnosed and the sooner treatment is started, the better is the outlook for the affected individual.
Some of the common signs and symptoms which will lead doctors to suspect a LSD include:
- Family history of a LSD or a sibling born with a LSD
- A combination of features such as certain abnormal facial features, abnormal bone growth, heart abnormalities and eye abnormalities.
- Enlarged liver and/or spleen
- Blindness and deafness
- Symptoms of neurological or mush dysfunction such as intellectual impairment delay in learning to sit, crawl, walk or talk.
- Increased rigidity of the muscles and seizures.
- Gradual deterioration in functioning where a child is able to, for example, walk is unable to do so any longer (known as regression)
- Problems with growth (very short in stature)
- Easy bruising, bleeding, anaemia
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