What is Hemophagocytic Syndrome?

This is the 4561st article of Da Yi Xiao Hu

Summer warm current

At the end of June 2017, Ms. Lu, a life teacher at Yinzhou Jinwan Huating Kindergarten, was diagnosed with hemophagocytic syndrome and was in critical condition. The high medical expenses put the family in a difficult situation.

Soon, her unfortunate experience spread among her friends, and other kindergarten teachers, parents, and children donated money, and many strangers also lent a hand. In just one day, more than 150,000 yuan was raised...

What is "Hemophagocytic Syndrome"

Hemophagocytic syndrome is a histiocytic disease with reactive proliferation of the mononuclear macrophage system. It is mainly caused by defects in the function of cytotoxic killer cells and NK cells, which lead to antigen clearance disorders. The mononuclear macrophage system is overactivated and proliferated due to continuous antigen stimulation, and produces a large number of inflammatory cytokines, resulting in a group of clinical syndromes. It is mainly divided into primary (hereditary) and secondary. The former is generally autosomal recessive or X-linked, with a relatively clear genetic defect or family history. The latter can be caused by infection (mainly Epstein-Barr virus infection), autoimmune diseases, malignant tumors, acquired immunodeficiency (such as transplantation), drugs and other factors.

What are the symptoms of hemophagocytic syndrome?

1. Familial hemophagocytic syndrome

The age of onset is usually early, most of which occur within 1 year of age, but there are also elderly patients who develop the disease. The clinical manifestations are varied. In the early stage, fever and hepatosplenomegaly are mostly present, and there may also be rashes, neurological symptoms and lymphadenopathy. The fever is mostly persistent and can subside on its own. The hepatosplenomegaly is obvious. The rash has no obvious characteristics and is mostly transient. About half of the patients may have enlarged lymph nodes, and those with obvious enlargement should be differentiated from lymphoma. Involvement of the central nervous system often occurs in the late stage, and there may be a full anterior fontanelle, increased excitability, changes in muscle tone and convulsions, and there may also be local neurological signs. The lungs may be infiltrated by lymphocytes or macrophages, which is relatively difficult to distinguish from infection. Common causes of death are bleeding, multiple organ failure, infection and disseminated intravascular coagulation.

2. Secondary hemophagocytic syndrome

(1) Infection-related hemophagocytic syndrome Severe infection can cause a strong immune response, which often occurs in immunocompromised patients. It is often caused by viruses, but can also be caused by bacterial, rickettsial, fungal, and protozoan infections. Its clinical manifestations include evidence of infection in addition to the manifestations of hemophagocytic syndrome.

(2) Macrophage activation syndrome is one of the serious complications of chronic rheumatic diseases in children, and is more common in patients with systemic juvenile rheumatoid arthritis. On the basis of chronic rheumatic diseases, patients may develop symptoms of hemophagocytic syndrome such as fever, pancytopenia, hepatosplenomegaly, abnormal liver function, and central nervous system lesions.

(3) Tumor-associated hemophagocytic syndrome Acute leukemia, seminoma, lymphoma, etc. may be complicated or secondary to hemophagocytic syndrome before, during, or after treatment. Because the primary disease may be relatively hidden, especially in lymphoma patients, it is very easy to misdiagnose it as infection-associated hemophagocytic syndrome.

How to treat hemophagocytic syndrome

Familial hemophagocytic syndrome often has a poor prognosis and the disease progresses rapidly. It is generally recommended to undergo allogeneic hematopoietic stem cell transplantation as soon as possible. The treatment of secondary hemophagocytic syndrome is relatively complicated. It is mainly aimed at the treatment of the primary disease. For example, blood/lymphatic system tumors require chemotherapy, and infection-related hemophagocytic syndrome requires anti-infection treatment. While treating the primary disease, the hemophagocytic syndrome treatment plan should be used to control the progression of the disease. At present, the hemophagocytic syndrome-2004 regimen is commonly used internationally to treat secondary hemophagocytic syndrome. The 2004 regimen is based on dexamethasone, cyclosporine and etoposide, and is divided into an initial treatment period of the first 8 weeks and a maintenance treatment period, and intrathecal injection is also given. In the acute phase, immunoglobulin can be used to help alleviate the condition.

If treatment is difficult, fails, or the disease relapses, allogeneic hematopoietic stem cell transplantation can be considered.

This project is funded by Shanghai Science Education Development Foundation (Project No.: B202117)

Author: Shanghai Jing'an District Central Hospital

Dr. Xia Lemin