Myelofibrosis

Description

Myelofibrosis is a serious disease of the bone marrow that disrupts the normal production of blood cells in the body.

The result is partial bone marrow loss, leading to severe anemia, weakness, fatigue, and often an enlarged spleen and liver.

The disease is a rare type of chronic leukemia – a cancer that affects the blood-forming tissues of the body and belongs to the group of myeloproliferative clinical conditions.

In many of those affected, the disease progressively worsens, and some of them may subsequently develop a severe form of leukemia.

But it is also possible that the clinical condition does not manifest itself, causing no characteristic symptoms for years.

What are the symptoms?

The disease usually develops slowly and in its earliest stages those affected do not notice or feel any signs or symptoms.

But since the hematopoietic process is progressively disturbed, the following clinical manifestations appear over time:

• Feeling tired, weak or short of breath, usually due to anemia;

• Pain or swelling under the ribs on the left side, which is caused by the increased size of the spleen;

• Pale skin;

• Easy bruising;

• Bleeding easily;

• Excessive sweating during sleep /night sweats/;

• Frequent infections;

• Pain in bones;

• Feverishness;

What are the causes?

The disease occurs when blood stem cells develop a gene mutation. These cells have the ability to reproduce and divide into the many specialized cells that make up our blood – erythrocytes, leukocytes and platelets. p>

It is not clear what causes the blood stem cell gene mutation. When the mutated stem cells multiply and subsequently divide, the mutation is passed on to the new cells.

As more and more of these cells are produced, the normal blood-forming process is disrupted.

The end result is usually a reduced amount of red blood cells, which causes anemia, and an abundance of white blood cells, with platelet levels varying.

In affected people, scars appear on the normally porous bone marrow.

Most people have a mutation in a gene called JAK2, but other gene abnormalities are possible.

What are the complications?

• Increased pressure of blood flow supplying the liver – normally blood flow from the spleen enters the liver through a large blood vessel called the portal vein.

Increased blood flow from an enlarged spleen can lead to high blood pressure in the portal vein /portal hypertension/.

This, in turn, can push excess blood into the smaller veins in the stomach and esophagus and cause them to rupture and bleed.

• Pain – a greatly enlarged spleen can cause painful sensations in the upper abdomen and back;

Treatment of myelofibrosis

Immediate treatment is possible and not necessary. If the affected person has no complaints and does not show symptoms of anemia, enlarged spleen or other complications, treatment is usually not is necessary.

Instead, the treating physician monitors the patient’s health with frequent, thorough examinations and tests and watches for signs of disease progression.

Scientists continue to work on creating drugs that target inhibiting the mutated JAK2 gene, which is thought to cause the disease in most people.

The first such drug to be approved by the US Food and Drug Administration is ruxolitinib, and clinical tests have found that it limits swelling of the spleen and reduces other related symptoms.

It is still too early to say whether this drug can prolong the lives of patients suffering from this serious disease, but preliminary indications from clinical trials are encouraging.