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How is Chronic lymphocytic leukemia (CLL) diagnosed?

See how Chronic lymphocytic leukemia (CLL) is diagnosed. Which specialists are essential to meet, what tests are needed and other useful information for the diagnosis of Chronic lymphocytic leukemia (CLL)

Chronic lymphocytic leukemia (CLL) diagnosis

Chronic lymphocytic leukemia (CLL) is a type of cancer that affects the blood and bone marrow. It is characterized by the overproduction of abnormal white blood cells called lymphocytes. CLL is a slow-growing cancer and often does not cause symptoms in its early stages. However, as the disease progresses, symptoms may develop, and diagnosis becomes crucial for appropriate management and treatment.



Medical History and Physical Examination:



The diagnosis of CLL typically begins with a thorough medical history and physical examination. The healthcare provider will ask about the patient's symptoms, medical history, and family history of cancer. They will also perform a physical examination to check for any signs of enlarged lymph nodes, spleen, or liver.



Blood Tests:



Blood tests are an essential part of diagnosing CLL. They help evaluate the number and types of blood cells present, as well as identify any abnormalities. The following blood tests are commonly used:




  • Complete Blood Count (CBC): This test measures the number of red blood cells, white blood cells, and platelets in the blood. In CLL, the number of lymphocytes is usually elevated.

  • Peripheral Blood Smear: A small sample of blood is examined under a microscope to assess the appearance and characteristics of the blood cells. CLL cells are typically small and mature-looking.

  • Flow Cytometry: This test uses antibodies to identify and analyze the different types of cells in a blood sample. It can help determine the percentage of abnormal lymphocytes and their specific markers, aiding in the diagnosis of CLL.



Bone Marrow Biopsy:



A bone marrow biopsy is often performed to confirm the diagnosis of CLL and assess the extent of the disease. During this procedure, a small sample of bone marrow is extracted from the hipbone or another large bone. The sample is then examined under a microscope to check for the presence of abnormal lymphocytes. The biopsy also helps determine the stage of CLL and provides information about the prognosis.



Imaging Tests:



Imaging tests may be conducted to evaluate the extent of CLL and detect any complications. These tests can include:




  • Computed Tomography (CT) Scan: A CT scan uses X-rays and computer technology to create detailed cross-sectional images of the body. It can help identify enlarged lymph nodes, organs, or other abnormalities.

  • Magnetic Resonance Imaging (MRI): An MRI uses powerful magnets and radio waves to generate detailed images of the body. It may be used to assess the brain, spinal cord, or other specific areas.

  • Ultrasound: Ultrasound uses sound waves to create images of internal organs. It can be helpful in evaluating the size and condition of the spleen or liver.



Genetic and Molecular Testing:



Genetic and molecular testing can provide valuable information about the specific characteristics of CLL cells. These tests help identify certain genetic mutations or chromosomal abnormalities that may influence the prognosis and treatment options. Some commonly performed tests include:




  • Fluorescence In Situ Hybridization (FISH): FISH is a laboratory technique that uses fluorescent probes to detect specific genetic abnormalities. It can identify chromosomal changes, such as the deletion of certain genes, which are associated with CLL.

  • Immunoglobulin Heavy Chain Variable Region (IGHV) Mutation Analysis: This test determines the mutation status of the IGHV gene in CLL cells. The mutation status is an important prognostic factor and helps guide treatment decisions.



Additional Tests:



In some cases, additional tests may be performed to gather more information about the CLL diagnosis. These tests can include:




  • Lymph Node Biopsy: If enlarged lymph nodes are present, a biopsy may be performed to examine the lymph node tissue under a microscope. This helps confirm the presence of CLL cells and rule out other potential causes of lymph node enlargement.

  • Immunophenotyping: Immunophenotyping is a technique that uses antibodies to identify specific proteins on the surface of cells. It can help differentiate between different types of leukemia and lymphoma.

  • Gene Expression Profiling: This test analyzes the activity of multiple genes in CLL cells. It can provide insights into the behavior of the disease and help predict the response to certain treatments.



It is important to note that the diagnosis of CLL requires the expertise of healthcare professionals, including hematologists and oncologists. They consider the results of various tests and examinations to make an accurate diagnosis and determine the most appropriate treatment plan for each individual.


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When I was 18 years old symptoms began with rapid heartbeat at 210 bpm while sleeping.   After years of guesswork from doctors I was finallly correctly diagnosed at the age of 49 with Chronic Lymphocitic Leukemia through a bone aspiration and blood ...

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