Gaucher disease identification tool

Calculators

This tool needs javascript enabled to work.Go through the following questionnaire with your patient.

1. Medical History

Is the patient experiencing:

Yes	No
		Bone pain
		fatigue
		Adynamia (lethargy, weakness)

If your patient answered no to all the above questions then

If clinical suspicion persists despite an absence of symptoms related to Gaucher disease, it is important to implement a surveillance program including a regular three monthly review of symptoms.

Otherwise, continue with 2. Abdominal Ultrasound.

2. Abdominal Ultrasound

Are the following pathologies present:

Yes	No
		hepatosplenomegaly

If no then

If a patient is complaining of bone pain, fatigue and adynamia, but there is no ultrasound evidence of hepatosplenomegaly, a GP referral is required to assess alternative causes of these symptoms. A 6 monthly abdominal ultrasound review would be appropriate, unless symptomatic.

Otherwise, continue with 3. Haematology review.

3. Haematology review

Is there evidence of:

Yes	No
		Anaemia
		Thrombocytopaenia

If the answer to all the questions in 3, Haematology review, is no then

Review other causes of hepatosplenomegaly.

Otherwise, continue with 4. Clinical Chemistry.

4. Clinical Chemistry

Is there pathological evidence of:

Yes	No
		Elevated ferritin
		Elevated Tartrate resistant acid phosphatase
		Elevated Angiotensin converting enzyme

If the answer to all the questions in 4, Clinical Chemistry, is no then

Review other causes of hepatosplenomegaly with cytopaenia.

Otherwise, continue with 5. MRI of lower limbs.

5. MRI of lower limbs

Are the following pathologies present:

Yes	No
		Is there displacement of the yellow marrow in the T1 weighted sequences?

If no then

Review other causes of hepatosplenomegaly with cytopaenia.

Otherwise, continue with 6. Special tests.

6. Special tests

Is there pathological evidence of:

Yes	No
		Reduced β-glucocerebrosidase activity
		Elevated chitotriosidase activity

If the answer to either question in 6, Special tests, is no then

Diagnosis of Gaucher disease suspected, repeat test immediately. If still negative, consider other causes of hepatosplenomegaly with cytopaenia and bone marrow involvement.