Hemophagocytic lymphohistiocytosis (HLH) is a rare disease that usually occurs in
infants and young children. It may also occur in adults. Children usually inherit
the disease. In adults, many different conditions, including infections and cancer,
can cause HLH.
If you have HLH, your body's defense system, called your immune system, does not work
normally. Certain white blood cells — histiocytes and lymphocytes — attack your other
blood cells. These abnormal blood cells collect in your spleen and liver, causing
these organs to enlarge.
HLH is a rare disease, and health care providers are still learning about its causes.
There are 2 types of HLH: familial and acquired. Familial HLH accounts for about 25%
of cases and families pass down the condition. If both parents are genetic carriers
of HLH, a child has a 25% chance of having the disease, a 25% chance of not having
the disease, and a 50% chance of being a carrier. A number of conditions cause acquired
HLH. These include:
Fever and enlargement of the spleen are the most common symptoms of HLH. There are
many other possible symptoms, including:
Enlargement of your liver
Swollen lymph nodes
Jaundice (yellow color of your skin and eyes)
Lung problems, including coughing and difficulty breathing
Digestive problems, including stomachache, vomiting, and diarrhea
Nervous system problems, including headache, trouble walking, visual disturbances,
Young children and babies may have additional symptoms, like irritability and “failure
to thrive." This means they don’t grow and develop normally.
Your health care provider bases a diagnosis of HLH on your symptoms, physical examination
findings, and several lab tests. A prolonged fever is a commonly occurring symptom.
An enlarged liver and/or spleen (located in the upper left side of the abdomen) are
key physical findings. Your health care provider conducts blood tests to look for:
Low levels of white blood cells called natural killer cells (these cells are important
for a healthy immune system)
Low levels of white blood cells, red blood cells, and clotting cells called platelets
High levels of triglycerides (fats in your blood)
Low levels of fibrinogen (a protein important for clotting)
High levels of ferritin (a protein that stores iron)
High levels of a substance called CD25. This increases in your blood when your immune
system is stimulated
Another important test, a bone marrow biopsy, calls for taking a sample of your bone
marrow (the center of the bone, where blood cells are made) and examining it under
a microscope. Other tests may include genetic testing and blood cultures, which are
blood samples, to look for infection in your blood.
Treatment of HLH depends on the cause, your age when the disease starts, and how severe
the disease is. The acquired form of HLH may clear up when your health care provider identifies
the cause and treats the disease. Familial-type HLH is usually fatal if not treated.
Treatment for familial or persistent acquired HLH may include:
Chemotherapy (cancer drugs)
Immunotherapy (drugs that affect your immune system)
Steroids (drugs that fight inflammation)
If drug treatments do not work, your health care providers may perform a stem cell
transplant. In this procedure, healthy bone marrow cells from a donor replace your
diseased bone marrow cells. Stem cell transplant can cure HLH in most cases.
There is no way to prevent HLH, but as health care providers continue to learn more
about it, treatment improves. Most children who are successfully treated go on to
live normal lives.
Health care providers do not regularly perform genetic testing for HLH on newborns,
because the disease is very rare. If a health care provider diagnoses HLH in the brother
or sister of a newborn, the chance of the newborn having the disease is 25%. Experts
recommend genetic testing for these infants.