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Is Myelofibrosis An Autoimmune Disease?

Myelofibrosis is a rare disorder of bone marrow that affects the production of normal blood cells. The number of blood cells is reduced due to less production in the bone marrow. It happens because this disorder causes scarring or fibrosis of bone marrow. It occurs due to a mutation in genes of blood stem cells, most commonly in the JAK2 gene (Janus kinase 2). Its symptoms include symptoms of anemia like tiredness, shortness of breath, pallor eyes, nail, and many more. It is usually diagnosed by bone marrow biopsy. It may progress to a serious form of blood cancer namely leukemia.

Is Myelofibrosis An Autoimmune Disease?

Myelofibrosis occurs due to mutations in genes like JAK2, MPL, CALR, and TET2. It may affect other genes too. It appears mostly after 50 years of age. This disorder is not an inherited disease because this type of mutation spares reproductive cells like sperm or egg. It is more likely to affect people who are at constant exposure to certain chemicals such as toluene and benzene. Exposure to high radiation such as seen in atomic bomb attacks may also induce this disorder that may cause huge harm to the body. (2)

Myelofibrosis can be an autoimmune disorder in some cases. When myelofibrosis develops in association with autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis, then this type of myelofibrosis is called autoimmune myelofibrosis. It is reported in most research studies that autoimmune myelofibrosis is observed in many female patients who have a history of SLE. These patients represented the symptoms of severe anemia.

Autoimmune myelofibrosis is a rare condition but has a severe impact on health. Bone marrow is scarred so much that it cannot produce healthy blood cells. Thus, the levels of red blood cells, white blood cells, platelets drop down severely. The patient feels extremely tired, dull and cannot perform normal functions properly. Other symptoms include headache, pallor skin and other symptoms of anemia.

Autoimmune myelofibrosis is diagnosed by biopsy of bone marrow. It also shows a positive autoantibody blood test. It is found that reticulin fibers are found in excess number in the bone marrow. It is also reported that these fibers do not infiltrate in the spleen and liver as in other types of myelofibrosis.

The good news about autoimmune myelofibrosis is that it improves dramatically well with immunosuppressant. It can be managed with corticosteroids like prednisone or cortisone with azathioprine or cyclosporine. Corticosteroids have the additional benefit that it can nullify the requirement of bone marrow transplantation. (1)

Myelofibrosis is a bone marrow disorder which is characterized by scarring of bone marrow. It influences the production of blood cells leading to insufficient blood cells circulating in the blood. It results in blood-related problems such as anemia, fatigue, weakness followed by swelling in the spleen and liver.

Bone marrow is the place in our body that produces blood cells. In this disorder, the bone marrows get fibrotic slowly. The bone marrow becomes incapable to produce blood cells. It impacts the production of blood cells. It then results in the reduction of the number of blood cells. When this disorder progresses further, it may lead to serious complications that can threaten one’s life. These complications include leukemia, blood clotting disorders, and prolonged bleeding. (3)

There are two types of myelofibrosis, i.e. primary and secondary myelofibrosis. Primary myelofibrosis refers to the disease occur by itself for the first time in the body. Secondary myelofibrosis represents the presence of other diseases, injuries or blood disorders. It means myelofibrosis that may develop secondary to these disorders.


Myelofibrosis is a disorder of bone marrow that causes its scarring or fibrosis. It develops after 60 years of age due to mutations in certain genes mentioned above. Only a few cases of this disorder are associated with autoimmune disorders and are called autoimmune myelofibrosis. It improves well with corticosteroids without bone marrow transplantation.


Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 27, 2021

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