Aplastic anaemia – Symptoms, Causes, Diagnosis, and Risk factors

Introduction

Aplastic anaemia is more than anaemia. It’s a rare and severe condition. It occurs when the bone marrow can no longer make enough new blood cells.

Bone marrow fails to make all three types of cells—white blood cells, red blood cells and platelets, leading to a condition called pancytopenia, making the individual more susceptible to infections and bleeding.  

Causes of Aplastic anaemia

• Idiopathic – It accounts for almost 65% of the cases. The cause of idiopathic Aplastic anaemia is not known.
• Inherited – Familial Aplastic anaemias are hereditary.
• Acquired – a few drugs like chemotherapy, sulfonamides, viruses, ionizing radiation exposure and toxic chemical exposure may lead to the onset of Aplastic anaemia.  

Symptoms of Aplastic anaemia

• Aplastic anaemia has a wide range of symptoms, and the disease progression also varies with different individuals. It can either be a short-term disease, or it can be a chronic occurrence.   
• The incidence of Aplastic anaemia in men and women is of equal occurrence.  
• It is also seen among all age groups. There is a slight increase of cases in childhood and early adulthood compared to the rest of the age spectrum.  

The following are the few symptoms observed:

• Fatigue
• Shortness of breath
• Pale skin
• Easy bruisability
• Gum and gingival bleeding
• Nasal bleeds
• Heavy menstrual flow
• Blood in stools
• Recurrent infections
• Headache
• Sudden onset febrile illness
• Irregular heartbeat

Risk factors of Aplastic anaemia

• There are certain risk factors that might trigger Aplastic anaemia, and the onset can be insidious.
• Risk factors include exposure to certain drugs like drugs for rheumatoid arthritis, chemotherapy drugs and certain antibiotics.
• Exposure to toxic environments for prolonged periods can also be a risk factor.
• Certain autoimmune diseases like Systemic Lupus Erythematosus (SLE) and eosinophilic fasciitis can also lead to aplastic anaemia.
• Very rarely, pregnancy might also be a risk factor.
• Individuals with diseases like paroxysmal nocturnal haemoglobin,uria, the breakdown of red blood cells, might also have Aplastic anaemia in association.
• Fanconi’s anaemia is also another rare disease which sometimes has an association with Aplastic anaemia.  

Diagnosis of Aplastic anaemia

Diagnosis is made by a few blood tests and a bone marrow biopsy. Any other additional testing is done to find out any underlying disease.  

• Blood workup – It is done to check the values of white blood cells, red blood cells and platelets. All three types of blood cells are deficient in Aplastic anaemia.  

• Bone marrow biopsy – It plays a major role in diagnosing the disease and its severity.  

• Genetic testing – Genetic testing is done to exclude blood cells related malignancies.  

Treatment for Aplastic anaemia

Treatment varies by age, the severity of symptoms and the underlying causes. It is important to treat the underlying cause of aplastic anaemia.

Following are the treatment options

• Bone marrow transplant infuses healthy blood-forming stem cells to replace bone marrow that’s not producing enough healthy blood cells.

• Blood transfusion is done to control bleeding and relieve symptoms by providing blood cells.  

• Immunosuppressive therapy treatment can involve drugs that alter or suppress the immune system, which damages the marrow.

• Medical therapy involves antivirals and antibiotics to fight the infections caused by Aplastic anaemia.   

What are the complications of Aplastic anaemia?

If it is left untreated, Aplastic anaemia might lead to various complications ranging from infections to death.

Following are the expected complications

• Severe bleeding  
• Heart complications (irregular heartbeat, heart failure)
• Recurrent infections range from viral, bacterial and fungal.

Conclusion

It is a disease that affects the blood cells due to bone marrow failure making the individual susceptible to infections and bleeding. It is treatable when found early. Bone marrow transplant and stem cell therapy are a few treatment options which give a good prognosis.  

FAQ