Myelodysplastic Syndrome (MDS) – Diagnosis & Treatment

How to Perform Myelodysplastic Syndrome Diagnosis?

1. History and Physical Examination

Diagnosing myelodysplastic syndrome (MDS) begins with a physical exam to check for signs of bone marrow problems and low blood cell counts. A doctor will look for signs like pale skin, shortness of breath, a rapid heartbeat, mouth sores, infections, bruising, or tiny red spots on the skin.

While an enlarged spleen (splenomegaly) is rare in MDS, swollen lymph nodes (adenopathy) are even less common. Patients with MDS often feel tired, dizzy, or short of breath, mainly due to anemia (low red blood cells), which is the most common symptom.

Sometimes, patients may not show symptoms, and MDS is discovered accidentally during routine blood tests or checkups. It is also important for the doctor to know the patient's entire medical history, including any exposure to toxins, alcohol, medications, or past treatments that could be related to MDS. Infections or conditions like HIV can also be risk factors. This helps the doctor understand the possible causes and administer appropriate diagnostic tests.

Before confirming the myelodysplastic syndrome diagnosis, doctors conduct various tests while considering different MDS diagnosis criteria.

2. Complete Blood Count (CBC) and Blood Tests

Diagnosing MDS typically starts with a complete blood count (CBC), which checks the levels of different blood cells. Most people with MDS will have low levels of red blood cells (anemia), white blood cells (neutropenia), or platelets (thrombocytopenia).

In advanced cases, there may be low levels of all three types of blood cells, known as pancytopenia. The red blood cells in MDS tend to be larger than usual, a condition called macrocytosis, and they may have abnormal shapes. The white blood cells can also show unusual characteristics, like abnormal nuclei or uneven granulation. Platelets may appear large or misshapen.

Doctors may also test for deficiencies in iron, vitamin B12, or folate to help rule out other conditions.

3. Bone Marrow Examination and Biopsy

If blood tests suggest MDS, the next step is a bone marrow biopsy. This test involves examining the bone marrow, where blood cells are made. The bone marrow in MDS patients is often crowded with cells, but many of these cells are abnormal. In MDS, the bone marrow will show impaired development of blood cells, and there may be fewer than 20% blast cells (immature cells).

The test may also reveal abnormal red blood cells, called erythroid cells, and megakaryocytes, which produce platelets that can appear strange or malformed. Bone marrow fibrosis (scarring) is common in MDS and can affect the ability of the bone marrow to produce blood cells properly.

4. Peripheral Blood Smear

If MDS is suspected, blood smears are examined to look for abnormal cells. These smears might show unusual shapes in red blood cells, such as oval-shaped cells or cells with abnormal features like Howell-Jolly bodies.

White blood cells may show a condition called the pseudo-Pelger-Huet anomaly, where their nuclei look different from normal. The platelets are usually normal, but in some cases, they can look larger or have fewer granules.

5. Cytogenetic Analysis

Genetic tests are another important part of diagnosing MDS. These tests look for changes in the chromosomes or genes of blood cells. Abnormalities like missing or extra parts of chromosomes or mutations in specific genes can help confirm the diagnosis and guide treatment.

Certain chromosomal changes, like deletions on chromosomes 5 or 7, are linked to a better or worse myelodysplastic syndrome prognosis. Gene mutations (like those in the TP53 or TET2 genes) are also often found in MDS and can affect how blood cells develop. These tests help doctors understand the severity of the condition and how best to treat it.

Myelodysplastic Syndrome Treatment Options