What Is Severe Aplastic Anemia?

What Is Severe Aplastic Anemia

An uncommon blood condition known as severe aplastic anaemia occurs when your bone marrow is unable to produce enough blood cells due to an inflammatory reaction.

Physicians categorise aplastic anaemia as follows based on the severity of the symptoms:

• non-severe
• very severe
• severe

For those with severe aplastic anaemia, newer therapies such as immunosuppressant drugs and bone marrow transplants have significantly improved survival rates and quality of life. Individuals with severe aplastic anaemia who go untreated typically have very bad prognoses.

The exact cause of the development of aplastic anaemia remains a mystery to researchers. It's thought to be connected to an autoimmune response against the bone marrow cells that make blood cells.

Continue reading to find out more about this uncommon condition, its causes, symptoms, and available treatments.

What are the symptoms of severe aplastic anemia?

Individuals with severe aplastic anaemia have reduced amounts of:

• white blood cells
• red blood cells
• platelets

Low quantities of these three blood cell types are linked to the majority of aplastic anaemia symptoms.

Possible signs and symptoms consist of:

• fatigue
• persistent infections
• shortness of breath
• weakness
• headaches
• fever
• dizziness
• nosebleeds
• bleeding gums
• paleness
• More easily bruised and bled than usual
• an erratic or rapidly beating heart
• Purpura, or red or purple blotches on the skin

Severe aplastic anemia causes

It is unknown what causes aplastic anaemia in roughly two-thirds of cases. It is referred to as idiopathic aplastic anaemia when the underlying cause is unknown.

Although the exact cause of aplastic anaemia is unknown, researchers believe it results from an autoimmune response in which T-cells, a kind of white blood cell, target bone marrow stem cells that create blood cells.

The environment and heredity may work together to cause this autoimmune response.

It is estimated that 70% of cases of aplastic anaemia are acquired, meaning they are brought on by environmental causes such as:

• toxic chemicals
• drugs, including several chemotherapeutic drugs
• viral illnesses such as hepatitis

It is believed that 30% of instances are hereditary, which means that genes passed down via generations are responsible.

The most prevalent inherited reason is Fanconi anaemia. About 2% of instances of fanconi anaemia result from a gene mutation on the X chromosome, however, the majority of cases are recessive diseases brought on by mutations in the FANC gene. "Recessive" refers to the condition requiring an accompanying mutation from both parents to manifest.

Who gets severe aplastic anemia?

Severe aplastic anaemia affects almost equal numbers of men and women at any age. There is a little increase in incidence among men, according to some studies.

It is estimated to afflict roughly 1 in 430,000 people in the US and Europe, and roughly three times as many in East Asia.

Among the other possible risk factors are:

• family history
• prior chemotherapy
• being exposed to certain chemicals and pesticides

Potential complications of severe aplastic anemia

The following consequences can result from severe aplastic anaemia:

• bleeding
• an irregular heartbeat
• heart failure
• recurring or serious illnesses
• acquiring leukaemia or myelodysplastic syndrome

How is severe aplastic anemia diagnosed?

To identify aplastic anaemia and rule out other blood disorders including leukaemia or myelodysplastic syndrome, medical professionals perform several tests.

Tests include:

Blood tests, such as:

• complete blood count
• erythropoietin test
• blood smear
• folate or vitamin B12 test

1. Bone marrow biopsy, in which a medical professional removes a little sample of your bone marrow
2. Magnetic resonance imaging (MRI) and other imaging tests

The findings of these tests can also be used by doctors to assess the severity of your aplastic anaemia. The following variables affect how severe your aplastic anaemia is:

• quantity of viable bone marrow stem cells
• White blood cell type neutrophil count
• Immature red blood cell count, or reticulocyte count
• platelet count

Is severe aplastic anemia curable?

Stem cell transplants have been created recently by researchers as a possible treatment for aplastic anaemia. To replenish your stem cells, a stem cell transplant includes injecting stem cells from a donor's bone marrow.

Severe aplastic anemia treatment

Compared to non-severe aplastic anaemia, researchers have established more precise treatment guidelines for severe cases.

A stem cell transplant is typically the first-line treatment for someone with severe aplastic anaemia. The donor of the stem cells is genetically compatible. The donor may be a stranger, however they are frequently a close relative.

Immunosuppressants are usually used as the main treatment to stop the autoimmune reaction if a suitable donor is not available for a bone marrow transplant or if you are not a candidate.

Among the immunosuppressants you may be given are:

• Antithymocyte globulin in horses
• cyclosporin A

The reason why these drugs lessen symptoms in some aplastic anaemia patients is still a mystery.

People who don't react well to these drugs may be prescribed eltrombopag. This drug may also be taken with cyclosporin A or equine antithymocyte globulin.

When to contact a doctor

Aplastic anaemia might have hazy symptoms, particularly in the beginning. But if you have any of the following possible symptoms, you should consult your physician:

• fatigue
• bleeding or bruising
• unexplained weight loss
• purple dots on your skin

How long can you live with severe aplastic anemia?

If left untreated, severe aplastic anaemia might cause mortality very quickly. After getting a bone marrow transplant from a suitable donor, almost 75% of patients with aplastic anaemia go on to survive for at least five years.

Aplastic anemia life expectancy with treatment

Researchers assessed the long-term survival of 302 anaplastic anaemia patients receiving immunosuppressive medication or a stem cell transplant in a 2020 trial.

They discovered that thirty years later, 44% of recipients of stem cell transplants and 40% of recipients of immunosuppressive medication were still living. In previous years, the outcomes were better.

Additionally, 96% of those who remained living 25 years later had complete remission at the time of their last follow-up, according to the study.

Takeaway

Many patients with severe aplastic anaemia can now live long lives in remission after receiving treatment.

Aplastic anemia's early symptoms can be hazy, but they usually worsen with time. It's critical to contact a physician if you experience worrisome symptoms such as unusual bleeding or bruises.