Most cases of chronic lymphocytic leukaemia (CLL) are discovered incidentally during blood tests undertaken for other reasons.
However, you should visit your GP if you display symptoms such as progressive tiredness, increased bruising or bleeding, enlarged lymph nodes, recurrent infections or night sweats, fevers and weight loss.
They will ask about your symptoms, as well as your medical and family history. Your GP will also carry out a physical examination to check for swollen glands, a swollen spleen and any signs of abnormal bleeding. You may also be asked to have a blood test.
If your GP suspects any form of leukaemia, they will refer you to a haematologist (a doctor who specialises in conditions that affect the blood).
The most useful blood test to diagnose CLL is a full blood count, which counts the different type of blood cells typically shows increased numbers of lymphocytes.
However, to confirm the diagnosis, we undertake specialised testing called immunophenotyping. This involves examining the proteins expressed on the surface of the lymphocytes in detail to distinguish CLL from other conditions. This test is carried out in a specialist laboratory; the results are usually be available in one to two weeks.
A variety of genetic molecular tests will also be carried out on blood sample to better understand the genetic abnormalities present in the CLL. This is important as it provides valuable information about how the disease is likely to behave and has important implications for treatment and response.
Not all patients with CLL require a biopsy, but some do for diagnostic purposes. A biopsy involves removing some or all of an affected lymph node, which is then studied in a laboratory.
Biopsies are small procedures that are usually carried out under a local anaesthetic (where the area is numbed). An ultrasound machine is used to identify the best area to biopsy. Rarely, there are cases where the affected lymph node is not easily accessible and a general anaesthetic may be required (where you are asleep) to obtain a sample.
Rarely, we may want to look at a sample of your bone marrow, which is where normal blood cells are formed and also where CLL cells reside. A bone marrow biopsy involves taking a small sample of bone marrow to examine under a microscope. This procedure is carried out under a local anaesthetic and an area of skin at the back of your hip bone will be numbed, before removing a sample of bone marrow using a needle.
You may experience some discomfort during the procedure and have some bruising and discomfort in the area where the sample was taken for a few days afterwards. The procedure will take around 15 minutes to complete and is performed as a day case.
A pathologist (an expert in the study of diseased tissue) reviews biopsy samples for the presence of leukaemic cells.
In some cases, the haematologist may want to look at a sample of your bone marrow.
A bone marrow biopsy involves taking a small sample of bone marrow to examine under a microscope. This procedure is carried out under a local anaesthetic.
The haematologist will numb an area of skin at the back of your hip bone, before removing a sample of bone marrow using a needle. You may experience some discomfort during the procedure and have some bruising and discomfort in the area where the sample was taken for a few days afterwards. The procedure will take around 15 minutes to complete and you shouldn't need to stay in hospital overnight.
The bone marrow sample will be examined for abnormal cells and to determine how much of the bone marrow is involved.
When a diagnosis of CLL is confirmed, you will be seen by a member of the specialist CLL team in the CLL clinic and be assigned a clinical nurse specialist to support you during treatment.
If you have been diagnosed with CLL, the medical team may decide to check which parts of your body it affects. As it is a cancer of the blood, it is often seen in many places. Imaging can give a doctor more information that may help to determine when to start treatment.
These techniques show us where affected lymph nodes are in the body and whether other organs (e.g. the spleen) are involved. These tests are normally done as an outpatient and may include an ultrasound scan, CT scan or PET scan.