Tests and Diagnosis

  Return to Q&A Library

  Elevated MCV
  Large Platelets
  Blasts in Bone Marrow Biopsy
  Iron Tests
  Monitoring Blood Counts
  Skin Rashes
  Bone Marrow Examination in PNH
  MDS and Hypoproliferative Disorders
  Myeloid Metaplasia
  Determining Autoimmune Component of MDS
  Skin Abnormalities in Bone Marrow Disease
  Skin Dermatitis

Elevated MCV

What might an elevated MCV indicate?

MCV stands for 'mean corpuscular volume', one of the values taken as part of a

Complete Blood Count(CBC).  The MCV is an evaluation of the average volume of each red cell.   A high MCV (mean corpuscular volume) is common in MDS and in severe aplastic anemia. MCV is almost invariably elevated also in PNH.

A high MCV is a sign of

Soft tissue occupying the inner cavities of bones responsible for blood cell production.

bone marrow stress in these patients. It does not have independent prognostic significance. It does not warrant treatment per se, unless it is actually due to deficiencies in vitamin B12 or folic acid.

Folic acid or vitamin B12 deficiency should be excluded as causes for the elevated MCV; both of these conditions can cause low blood counts. An increased rate of

The oxygen carrying cells in our body. These bring oxygen to our tissues, and are the most numerous of the blood cells.

red blood cells destruction (

The destruction of red blood cells.

hemolysis) should also be excluded by checking the

An immature red blood cell normally restricted to the bone marrow and present in the bloodstream only in very low numbers.

reticulocyte count (reticulocytes are larger than mature red blood cells). Hemolysis requires specific treatment. If these conditions are excluded, the high MCV can be attributed to the MDS or aplastic anemia. It is common in both conditions.

Large Platelets

What does it mean when an MDS patient has "gigantic" platelets?

Enlarged

platelets can be observed when there is a high rate of platelet production (platelets are released early from the

Soft tissue occupying the inner cavities of bones responsible for blood cell production.

bone marrow), when there is abnormal platelet production (they fail to mature normally), or when platelets are "pushed out" of the bone marrow prematurely by other cells that are crowding them out.

Blasts in Bone Marrow Biopsy

What does an increase of blasts in the bone marrow indicate?

Blasts (myeloblasts) are a normal component of the bone marrow. A slight increase in blasts might be due to Neupogen or presence of infection. However, if there is a sustained increase in the number of blasts in a patient who is not on cytokine drugs, then it might indicate the development of myelodysplasia or acute leukemia. The optimal treatment depends upon a patients age, the availability of a

Soft tissue occupying the inner cavities of bones responsible for blood cell production.

bone marrow donor and other health-related factors.

Iron Tests

Why would a doctor recommend a blood test to measure the total iron binding capacity?

A full iron panel would include total iron, total iron binding capacity and ferritin level. These tests are used as a baseline to assess the iron status of the patient. Both iron deficiency and iron overload could be harmful. The combined information from these tests gives the treating physician more information than the iron level alone.

Monitoring Blood Counts

How often should an aplastic anemia patient on cyclosporine be monitored for disease evolution by doing bone marrow studies?

The

Complete Blood Count (CBC) is often a good hint of whether MDS or leukemia may be developing. If any of the blood counts are decreasing, or if there are myeloblasts in circulating blood, then a repeat marrow exam would be in order. The 

An enzyme that is present in many of our organs. LDH is abundant in red blood cells. It can function as a marker for hemolysis which can cause elevated LDH.

LDH (lactate dehydrogenase) is a good surrogate for the emergence of a PNH clone, which can be confirmed by

A laboratory technique used to identify and sort cells and their components.

flow cytometry.

Skin Rashes

Can skin rash be a symptom of aplastic anemia, MDS, or PNH?

Many hematologic conditions can be associated with skin manifestations. Skin rash is not a typical symptom of these disease, however, leukemia can present in the skin (leukemia cutis), and rashes due to vasculitis can be associated with these diseases. 

bone marrow patients may have hemorrhages into their skin. These can be small (

Small red or purplish spots on the skin or a mucous membrane, caused by very small hemorrhages.

Petechiae) or larger (bruises, ecchymoses). Clumps of leukemia cells may cause skin nodules (bumps). If blood counts are low, skin infections may occur.

Bone Marrow Examination in PNH

How often should PNH patients have a bone marrow aspiration or biopsy?

The short answer is that most patients with PNH do not need repeated exams of the marrow. If blood counts are stable then repeated

bone marrow examination may not be necessary. For an unstable patient, the doctor will want to repeat bone marrow exams every three to four months or as needed.

A bone marrow exam should be done initially in a patient with PNH. If the patient has a

The branch of genetics (the study of our genes, or chromosomes) that deals with the structure and function of the cell.

cytogenetic (chromosomal) abnormality, the marrow exam should be repeated periodically to see if this clone is expanding or if it is acquiring additional cytogenetic abnormalities, which usually it does not.

If the blood counts are going down, then the marrow exam should also be repeated. Even if the marrow is

Too many cells, for example within the bone marrow.

hypercellular, the patient can still respond very well to immunosupression, such as with

ATG (Atgam, Thymoglobulin) is an immunosuppressant, a drug therapy that reduces the body's natural immunity. It is approved by U.S. Food and Drug Administration (FDA) for treating moderate to severe aplastic anemia patients. ATG is most commonly used with cyclosporine, an oral medicine. ATG/cyclosporine combination is sometimes used for treating myelodysplastic syndromes (MDS), but is not nearly as effective against MDS as it is aplastic anemia.

ATG or

Cyclosporine (Neoral, Sandimmune) is an immunosuppressant, a drug that reduces the body's natural immunity. Cyclosporine is used along with anti-thymocyte globulin (ATG), another immunosuppressant, for treating aplastic anemia.

cyclosporine. The doctor will want to do another marrow if the counts are going down to make sure that there is no excess of

Immature cells that mature into the three types of blood cells.

blasts, which would indicate that the patient is developing MDS and would require a different approach to treatment.

MDS and Hypoproliferative Disorders

What is the relationship between hyperproliferative disorder and MDS?

Myelodysplastic syndromes (MDS) usually results in underproduction of mature cells because of destruction in the

bone marrow. However, marrows in MDS may be

Too many cells, for example within the bone marrow.

hypercellular or

Too few cells, for example within the bone marrow.

hypocellular.

Myeloproliferative disorders usually result in an increased level of one or more blood cells types. This is all complicated by the fact that myeloproliferative disorders and MDS may transform into one another.

Myeloid Metaplasia

How is myeloid metaplasia associated with MDS or aplastic anemia?

Myeloid metaplasia is called a "myeloproliferative disease". In myeloid metaplasia there is blood production at sites where blood production does not normally occur. Some of these sites (the liver and spleen) transiently are sites of blood production during fetal life. However, other sites never normally have blood production. Over time there is increasing fibrosis or "scarring" in the bone marrow and patients develop anemia and very large spleens.
This disease is not related to aplastic anemia or myelodysplastic syndromes but some MDS patients can have varying degrees of fibrosis in the bone marrow. MDS with fibrosis must be clearly distinguished from other possible causes of bone marrow fibrosis including rheumatologic disorders and myeloid metaplasia.

Determining Autoimmune Component of MDS

Is there any way to determine if one has an autoimmunity component to their MDS?

There are many research tests that can be performed. None are definitive. Alternatively one can undergo a trial of immune suppression.

Skin Abnormalities in Bone Marrow Disease

Can aplastic anemia patients develop skin disorders or abnormalities as part of the disease, a related disease, or treatments?

This could be a very interesting research question. An important protein present on bone marrow stem cells is also present on pigment cells in the skin (the stem cell factor receptor or KIT). If an immune response was directed against this protein it could result in both aplastic anemia and the loss of skin pigmentation.

Skin changes are seen with several inherited forms of aplastic anemia. In acquired aplastic anemia, skin changes are secondary to drugs that cause the disease or that are used for treatment.

Skin Dermatitis

Is skin dermatitis (and associated bleeding) characteristic of the myelodysplastic syndromes? What measures can be taken to make the patient more comfortable or address this problem?

Dermatitis is not a common finding in myelodysplastic syndromes, but skin abnormalities are common, together with bleeding (due to low platelet counts). Dermatitis may be related to the medications used to treat the disease. Proper diagnosis of the cause is essential to recommendation of treatment.