Hemophagocytic lymphohistiocytosis is a rare disease where white blood cells attack healthy tissue, and can be fatal. It can be genetic or acquired, and is diagnosed through blood tests and imaging. Treatment includes immunosuppressants and chemotherapy, and severe cases may require bone marrow transplants.
Hemophagocytic lymphohistiocytosis is a very rare disease that can become rapidly fatal, sometimes within weeks or days of its onset. It is characterized by extremely aggressive immune system activity, in which certain types of white blood cells attack and destroy healthy body tissue. The disease can be genetic or acquired and is usually seen in infancy or early childhood. Treatment options include drugs that suppress the immune system and chemotherapy to block the action of the abnormal blood cells. In severe cases, patients may need to receive emergency bone marrow transplants.
The exact causes of hemophagocytic lymphohistiocytosis aren’t fully understood, but doctors have identified some risk factors. The genetic form of the disease results from mutations in one or more specific genes that control the production and action of two types of blood cells: lymphocytes and histiocytes. The disease is autosomal recessive, which means both parents must carry abnormal copies of the genes for their child to inherit it. The acquired form of hemophagocytic lymphohistiocytosis usually occurs after a severe viral or bacterial infection. The immune system fails to return to normal activity levels once infectious pathogens have been eradicated from the body.
Lymphocytes and histiocytes normally help fight infection. In the case of hemophagocytic lymphohistiocytosis, however, cells react to healthy body tissue the same way they react to pathogens. The result is organ inflammation, tissue death, and the destruction of important blood and bone marrow cells. Patients with the disorder commonly experience high fever, rash, and jaundice. The spleen, liver, and other organs can become enlarged and stop working properly. The brain can also be affected, leading to irritability, mental confusion, seizures, and possibly coma or sudden death.
Doctors can diagnose hemophagocytic lymphohistiocytosis by carefully examining the symptoms and performing a series of tests. Blood samples are tested to check for abnormal red and white blood cell counts and to look for infections. Physical exams and imaging tests are helpful in determining which organs have been damaged and to what extent. Patients presenting with symptoms of hemophagocytic lymphohistiocytosis are hospitalized and treated immediately.
The goal of treatment is to stop the overactivity of lymphocytes and histiocytes. Chemotherapy drugs and other immunosuppressants are often effective in temporarily shutting down most of the immune system, giving the body’s organs and tissues time to recover. The acquired form of the disorder usually responds to medical treatment, but most patients who have genetic conditions eventually need bone marrow transplants to prevent recurring problems. By removing the abnormal cells from the bone marrow and replacing them with healthy stem cells, a large number of patients are able to recover permanently.
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