Presenting symptoms:4
Patient’s spleen was removed.
Age 4.
Years later, patient presented to GP unwell, tired with an elevated temperature.
Blood test revealed liver function abnormalities at age 26.
Patient referred to hepatologist.
Liver found to be enlarged.
Patient referred to clinical geneticist.
Splenectomy noted in association with hepatomegaly. Gaucher disease considered and patient diagnosed.
Age 29.
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Presenting symptoms:4
Patient presented to GP with fatigue, bruising, bleeding and blood clots.
Blood tests showed low platelet count.
Age 45.
Patient referred to haematologist.
Diagnosed with chronic idiopathic thrombocytopenic purpura (ITP).
Age 45.
Sibling diagnosed with Gaucher disease.
Patient tested through family screening and diagnosed with Gaucher disease.
Age 46.
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Presenting symptoms:4
Patient found to have abnormal blood tests during pregnancy, but no diagnosis was made.
Age approximately 25.
Patient referred to physician.
Further blood and clotting tests indicated low platelet levels. Patient was diagnosed with idiopathic thrombocytopenic purpura (ITP).
Sibling diagnosed with Gaucher disease.
Patient tested via skin biopsy following sibling diagnosis.
Found to have Gaucher disease.
Age 35.
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Presenting symptoms:4
Patient presented with hip
problem requiring traction.
Patient experienced bleeding when tonsils were removed.
Approximately age 8.
Patient hospitalised from an
unrelated sports injury.
While in hospital, doctor noticed enlarged spleen, which was later removed. Patient tested for Gaucher disease and diagnosis confirmed.
Age 11.
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Presenting symptoms:4
Patient hospitalised with hepatitis, during which, doctor discovered enlarged liver and spleen.
Age 6.
Patient was repeatedly hospitalised between the ages of 6 and 25.
Patient bruised easily and reported frequent nose-bleeds. Diagnosed with anaemia.
Patient was hospitalised with pneumonia.
Bone biopsy performed, Gaucher disease diagnosed.
Approximately age 25.
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Presenting symptoms:5
Patient diagnosed with idiopathic thrombocytopenic purpura (ITP).
Approximately age 60.
Patient treated with steroids without response and monitored for severe thrombocytopenia.
Patient reported previous knee injury and hip pain, thought to be secondary to the knee injury.
Patient admitted to hospital for gastrointestinal bleeding.
Further evaluation revealed splenomegaly, advanced avascular necrosis of the hip, and osteoporosis. Bone marrow tested and patient diagnosed with Gaucher disease.
Age 72.
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Presenting symptoms:6
Patient presented to doctor with
enlarged spleen.
Approximately aged 9 months.
Patient returned to physician
three months later.
Enlarged kidneys investigated.
Age 12 months.
Patient referred to haematologist and underwent a series of tests.
Bone scans, liver biopsies and blood work ruled out lymphoma, leukaemia, other cancers and terminal illnesses.
Following tests, no diagnosis was made.
A genetic blood test was conducted. Patient was diagnosed with
Gaucher disease.
Age 18 months.
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Presenting symptoms:7
Patient presented to the emergency department with bruising.
Found to have a low platelet count from immune thrombocytopenic
purpura (ITP).
Age 2.
Patient presented with widespread bruising.
Bruising and bleeding was contained and the patient monitored.
Age 8.
Patient developed abdominal pain, reduced appetite, early satiety and fatigue.
Ultrasound scan of the abdomen revealed splenomegaly. Patient referred to a fourth haematologist and diagnosed with Type 1 Gaucher disease.
Age 13.
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