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Hemophagocytic lymphohistiocytosis

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Other Names for this Disease
  • Familial erythrophagocytic lymphohistiocytosis
  • Familial hemophagocytic lymphohistiocytosis
  • Familial histiocytic reticulosis
  • Hemophagocytic lymphohistiocytosis familial -1
  • HPLH1
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Your Question

My granddaughter had familial hemophagocytic lymphohistiocytosis when she was 8 months old. Can her brothers also develop this disease? I have noticed that both of the boys have had skin problems but the older one, now 13, has developed asthma and unexplained headaches. My granddaughter received a BMT from the 2nd born who is now 11 years old. Is there any testing we can have done to check the boys for the presence or absence of the disease?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is hemophagocytic lymphohistiocytosis inherited?

Hemophagocytic lymphohistiocytosis (HLH) may be familial (inherited) or secondary (acquired or reactive).

Familial hemophagocytic lymphohistiocytosis (FHL) is inherited in an autosomal recessive manner. This means that 2 mutated copies of the disease-causing gene (one inherited from each parent) are necessary to cause the condition. The parents of an individual with an autosomal recessive condition typically carry one mutated copy of the gene and are referred to as carriers. When 2 carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier.

Secondary HLH is not inherited and is usually associated with:

Secondary HLH is difficult to distinguish from familial HLH by clinical or histologic findings alone. Genetic testing is typically recommended even in HLH that is suspected to be acquired.[1]

Last updated: 11/26/2012

Can the older siblings of a child with familial hemophagocytic lymphohistiocytosis (FHL) develop this condition?

Signs and symptoms of FHL are usually evident within the first few months of life and may even develop in utero.[1] The condition most often affects infants from birth to 18 months of age.[2] However, cases in older children and adults have been reported.[1][2][3] The age of onset for affected siblings is usually comparable and often coincides, although different ages of onset and later onset have also been reported.[3]

Because FHL is inherited in an autosomal recessive manner, each sibling of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once a sibling at risk is known to be unaffected, the risk of his/her being a carrier is 2/3.[1]

If an affected individual has had genetic testing and the disease-causing mutations have been identified, testing for relatives at risk for either being affected or being carriers is available.
Last updated: 11/26/2012

Is genetic testing available for familial hemophagocytic lymphohistiocytosis (FHL)?

Yes. While the diagnosis of FHL is made based on the presence of clinical criteria, it is confirmed by molecular genetic testing. Genetic testing for the four identified genes in which mutations cause the condition is available on a clinical basis. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the two disease-causing mutations in the family are known.[1] In some affected individuals, the genetic cause of the disorder is unknown.[4]

GeneTests lists the names of laboratories that are performing genetic testing for FHL. To view the contact information for the clinical laboratories conducting testing, click here and then click on "Testing" for each type of FHL. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 11/26/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013