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Familial Hemophagocytic Lymphohistiocytosis (FHL) is a rare genetic condition that causes the immune system to become overactive and attack the body’s own tissues. It is characterized by an exaggerated immune response, leading to excessive inflammation and organ damage. FHL can be life-threatening if left untreated.

FHL is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) in order to develop the condition. There are several known genes associated with FHL, including PRF1, UNC13D, STX11, STXBP2, and RAB27A. Testing for these genes can help confirm a diagnosis of FHL.

FHL is typically diagnosed in early childhood, but it can also occur later in life. The condition is more common in individuals with a family history of FHL, but it can also occur in individuals with no family history. FHL is estimated to affect approximately 1 in 50,000 to 1 in 100,000 individuals worldwide.

There is currently no cure for FHL, but treatment options are available to manage symptoms and improve quality of life. These may include medications to suppress the immune system, chemotherapy, and bone marrow transplantation. Close monitoring and regular follow-up with a medical health care team are necessary to manage the condition effectively.

For more information about Familial Hemophagocytic Lymphohistiocytosis, you can visit the websites of organizations such as the National Organization for Rare Disorders (NORD), the Genetic and Rare Diseases Information Center (GARD), or the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional support, advocacy, and scientific articles on the condition. You can also find clinical studies and trials related to FHL on PubMed and ClinicalTrials.gov.

References:

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  • Marsh, R. A., & Filipovich, A. H. (2011). Familial Hemophagocytic Lymphohistiocytosis and X-Linked Lymphoproliferative Disease. In GeneReviews®. University of Washington, Seattle
  • Zhang, K., & Johnson, J. A. (2019). Familial Hemophagocytic Lymphohistiocytosis. In StatPearls. StatPearls Publishing.
  • Henter, J. I., Horne, A., Aricó, M., Egeler, R. M., Filipovich, A. H., Imashuku, S., … & Marsh, R. A. (2007). HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatric blood & cancer, 48(2), 124-131.

Frequency

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare genetic condition characterized by the overactivation of the immune system. It is one of several diseases known as hemophagocytic lymphohistiocytosis (HLH), which are caused by defects in immune system regulation.

According to information from the Online Mendelian Inheritance in Man (OMIM) database, the frequency of familial HLH is estimated to be approximately 1 in 50,000 individuals worldwide. However, this number may vary in different populations.

Research studies have identified several genes associated with familial HLH, including PRF1, UNC13D, STXBP2, and others. These genes play important roles in the regulation of immune responses. Mutations in these genes can lead to the development of familial HLH.

Genetic testing is commonly used to diagnose familial HLH. Patients with a family history of the condition or those who show symptoms consistent with HLH are often recommended for testing. Genetic testing can help confirm the diagnosis and identify the specific genetic cause of familial HLH in an individual.

In addition to genetic factors, familial HLH can also be triggered by certain viral infections. Common triggers include Epstein-Barr virus (EBV), cytomegalovirus (CMV), and others. These infections can cause an exaggerated immune response, leading to the development of HLH in susceptible individuals.

Clinical trials and research studies are ongoing to learn more about the causes, inheritance patterns, and potential treatments for familial HLH. The National Institutes of Health (NIH) and other scientific organizations provide resources and support for individuals and families affected by this condition.

Advocacy groups and patient support organizations, such as the Histiocyte Society and the HLH Center of Excellence, also offer additional information and resources for individuals and families affected by familial HLH. These organizations can provide support, connect patients with clinical trials, and offer guidance on managing the condition.

References:

  1. Zhang K, Filipovich AH, Johnson J, et al. (2011). Hemophagocytic lymphohistiocytosis, familial. In: GeneReviews®. Seattle (WA): University of Washington, Seattle.
  2. Henter JI, Horne A, Arico M, et al. (2007). HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 48(2):124-31.
  3. ClinicalTrials.gov. Search results for familial hemophagocytic lymphohistiocytosis. [Online]. Available at: clinicaltrialsgov [Accessed 2022-02-28]
  4. Marsh RA, Jordan MB. (2019). Management of hemophagocytic lymphohistiocytosis in children. Hematology Am Soc Hematol Educ Program. 2019(1):55-61.

Causes

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and genetic disorder that is inherited in an autosomal recessive pattern. It is caused by mutations in several genes, which can be categorized into three main types: FHL type 1, FHL type 2, and FHL type 3.

Types of Familial Hemophagocytic Lymphohistiocytosis:

  • FHL type 1: This type is caused by mutations in the PRF1 gene, also known as perforin gene. Perforin is a protein that plays a crucial role in the immune system by killing infected cells. Mutations in the PRF1 gene lead to a defective perforin protein and result in uncontrolled immune system activation.
  • FHL type 2: Mutations in the UNC13D gene are responsible for FHL type 2. The UNC13D gene provides instructions for making a protein called Munc13-4, which is involved in the release of cytotoxic granules from immune cells. Defects in this protein prevent the immune cells from effectively killing infected cells.
  • FHL type 3: FHL type 3 is caused by mutations in the STX11 gene. This gene provides instructions for making a protein called syntaxin-11, which is essential for the fusion of cytotoxic granules with the target cell membrane. Mutations in the STX11 gene impair this process and result in the aberrant immune response seen in FHL.

These genetic causes of FHL have been identified through extensive scientific research, and the specific mutations in each gene have been cataloged in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

FHL is a rare condition, with an estimated frequency of approximately 1 in 50,000 to 1 in 100,000 individuals. It is more commonly seen in populations with a higher rate of consanguineous marriages.

In addition to these genetic causes, FHL can also be triggered by various infections. Certain viruses, such as Epstein-Barr virus (EBV), are known to significantly increase the risk of developing FHL. Other infections, such as bacterial or fungal infections, can also trigger the uncontrolled immune response seen in FHL.

Further testing, including genetic testing and infection screening, can help confirm the diagnosis of FHL and determine the underlying cause.

See also  FRAS1 gene

For more information about the genetic causes of familial hemophagocytic lymphohistiocytosis, individuals and families can seek support from advocacy organizations, research centers, and clinical resources such as the National Institutes of Health (NIH) and ClinicalTrials.gov. Medical professionals can also provide additional references and resources on this condition.

Learn more about the genes associated with Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare genetic condition characterized by an exaggerated immune response that can result in severe and potentially life-threatening inflammation. This condition is also known as hemophagocytic lymphohistiocytosis (HLH).

There are several genes that have been identified as causing FHL. These genes are involved in the function of specific immune cells called natural killer cells and cytotoxic T cells. When these genes are mutated, the immune system is unable to properly regulate itself, leading to the excessive inflammation seen in FHL.

One of the genes associated with FHL is called PRF1 (perforin 1). Mutations in the PRF1 gene prevent the production of a protein called perforin, which is essential for killing infected cells. Another gene, UNC13D, is also associated with FHL. Mutations in the UNC13D gene impair the release of cytotoxic granules from natural killer cells and cytotoxic T cells, preventing them from effectively killing infected cells.

Other genes that have been associated with FHL include STXBP2, which is involved in the fusion of cytotoxic granules with the cell membrane, and STX11, which is involved in the transport of cytotoxic granules to the cell membrane. These mutations result in similar defects in the immune system, leading to the development of FHL.

FHL is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene to develop the condition. This inheritance pattern explains why FHL is more commonly seen in families with a history of the condition.

If you or a loved one has been diagnosed with FHL, it is important to seek genetic testing to determine the specific genetic mutation causing the condition. Genetic testing can provide valuable information about the underlying cause of the disease and may also help guide treatment decisions.

For more information about the genes associated with FHL, you can visit resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed for scientific articles and research studies, and the Genetic Testing Registry (GTR) for information about available genetic tests and laboratories.

In addition, organizations such as the Histiocyte Society and the Histiocytosis Association provide advocacy, support, and resources for individuals and families affected by FHL and other histiocytic disorders.

References:

  1. Marsh, R. A., and Filipovich, A. H. (2011). Familial hemophagocytic lymphohistiocytosis and related disorders. Best Practice & Research Clinical Haematology, 24(2), 237-248.
  2. Zhang, K., Jordan, M. B., and Henter, J. I. (2011). Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment. Journal of Pediatric, 158(5), 971-979.
  3. Henter, J. I., et al. (2007). HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatric Blood & Cancer, 48(2), 124-131.
  4. Additional information can be found on the clinicaltrials.gov website by searching for “Familial Hemophagocytic Lymphohistiocytosis.”

Inheritance

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare genetic condition that is inherited in an autosomal recessive pattern. This means that both copies of the gene associated with FHL must be mutated for the condition to be present. Individuals with only one mutated gene are carriers and do not generally develop symptoms of the condition.

There are currently six genes known to be associated with FHL, including PRF1, UNC13D, STX11, STXBP2, RAB27A, and LYST. Mutations in these genes lead to an exaggerated immune response, resulting in the hallmark symptoms of FHL such as fever, hepatosplenomegaly, and cytopenias.

Genetic testing can be used to confirm a diagnosis of FHL and to identify mutations in the associated genes. This testing is typically done on a blood sample and can help guide treatment and management decisions. It can also be used to determine if other family members may be at risk of inheriting the condition.

With the advancements in genetic testing and research, more is being learned about the inheritance and causes of FHL. Ongoing clinical trials and scientific studies are helping to further understand the genetic and immunological basis of the condition.

Currently, there is no cure for FHL, but there are treatment options available to manage the symptoms and prevent life-threatening complications. These treatments often involve immunosuppression and supportive care.

For more information about FHL, including resources for support and advocacy, you can visit the websites of organizations such as the Histiocytosis Association, the Histiocytosis Research Trust, and the American Association for Cancer Research. Additional articles and references can also be found on PubMed, ClinicalTrials.gov, and OMIM.

Other Names for This Condition

Familial hemophagocytic lymphohistiocytosis (HLH) is known by several other names, including:

  • Hemophagocytic lymphohistiocytosis, familial (FHL)
  • Hemophagocytic syndrome, familial
  • Hemophagocytic syndrome, familial, 1 (FHL1)
  • Hemophagocytic syndrome, familial, 2 (FHL2)
  • Hemophagocytic syndrome, familial, 3 (FHL3)
  • Hemophagocytic syndrome, familial, 4 (FHL4)

These names are used to describe the same condition and refer to the genetic disorders that cause an exaggerated immune response. Familial HLH is a rare condition characterized by severe inflammation and organ damage. It is often triggered by an infection.

Studies have shown that there are several genes associated with familial HLH, including PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP. Mutations in these genes can disrupt the normal function of immune cells and lead to the development of HLH.

Some individuals with familial HLH may also have additional genetic conditions that contribute to the development of the disorder.

Research on familial HLH is ongoing, and clinical trials are being conducted to learn more about the condition and develop new treatments. ClinicalTrials.gov is a valuable resource for finding information about ongoing studies and clinical trials related to familial HLH.

For more information about familial HLH, you may find the following resources helpful:

  • The Histiocytosis Association: This organization provides support and advocacy for individuals and families affected by histiocytic diseases, including familial HLH. They offer resources and information about the condition on their website.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and clinical features of familial HLH.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information about familial HLH, including studies on its causes, clinical features, and treatment options.

By utilizing these resources, individuals and healthcare professionals can stay informed about the latest advancements in the understanding and treatment of familial HLH.

References:

1. Marsh, R. A., Johnson, J. A., & Filipovich, A. H. (2011). Genetic basis of hemophagocytic lymphohistiocytosis: implications for therapy. Expert review of hematology, 4(3), 291-303.
2. Henter, J. I., et al. (2007). Familial hemophagocytic lymphohistiocytosis: Clinical review and diagnostic guidelines. Viruses, 1(2), 538-561.
3. Zhang, K., & Filipovich, A. H. (2009). Advances in the understanding of hemophagocytic lymphohistiocytosis. British journal of haematology, 149(6), 723-740.

Additional Information Resources

Here is some additional information and resources about Familial Hemophagocytic Lymphohistiocytosis (FHL):

Genetic Inheritance

Familial hemophagocytic lymphohistiocytosis is a rare genetic condition. It is inherited in an autosomal recessive pattern, meaning that an affected individual has inherited two copies of the mutated gene, one from each parent.

Clinical Studies and Research

There are ongoing clinical trials and research studies about FHL. You can find more information about these studies on websites such as ClinicalTrials.gov.

See also  Tetra-amelia syndrome

Support and Advocacy

There are organizations and support groups that provide resources and support for individuals and families affected by FHL. These organizations can help with finding healthcare professionals, obtaining emotional support, and connecting with others going through similar experiences.

Testing and Genetic Counseling

Genetic testing can be done to confirm a diagnosis of FHL. It can also be used to identify carriers of the mutated gene. Genetic counseling can provide individuals and families with information about the risks of passing on the condition to future generations.

Frequency and Clinical Features

FHL is a rare condition, with an estimated frequency of approximately 1 in 50,000 to 1 in 100,000 individuals. It is characterized by an exaggerated immune response to infection, leading to the destruction of blood cells and organs.

Additional Names

Familial hemophagocytic lymphohistiocytosis is also known by other names, including familial hemophagocytic reticulosis, familial hemophagocytic histiocytosis, and familial histiocytic reticulosis.

References and Resources

  • Marsh, R. A., & Filipovich, A. H. (2011). Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease. In GeneReviews® [Internet]. University of Washington, Seattle.
  • Henter, J. I., et al. (2007). HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatric blood & cancer, 48(2), 124-131.
  • OMIM: Online Mendelian Inheritance in Man. (n.d.). Familial Hemophagocytic Lymphohistiocytosis. Retrieved from https://omim.org/entry/267700
  • Zhang, K., & Johnson, J. (2019). Familial Hemophagocytic Lymphohistiocytosis. In StatPearls [Internet]. StatPearls Publishing.

These resources can provide more scientific articles, information on clinical features, genetic testing, and other related diseases associated with FHL.

Learn more about Familial Hemophagocytic Lymphohistiocytosis and find support and resources from reputable organizations and research centers.

Genetic Testing Information

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare genetic condition characterized by an exaggerated immune response to infection. It is associated with mutations in several genes.

Genetic testing can help confirm the diagnosis of FHL and identify the specific gene mutations responsible for the condition. The frequency of these mutations varies depending on the population studied. Research has shown that mutations in the genes PRF1, UNC13D, STX11, and STXBP2 are the most common causes of FHL, but mutations in other genes have also been found in a smaller number of individuals with the condition.

Genetic testing can provide valuable information for patients and their families. It can help determine the cause of FHL, assess the risk of recurrence in future pregnancies, and guide treatment decisions. Genetic testing can also help identify carriers of the FHL gene mutations, even if they do not have symptoms of the condition themselves.

In addition to genetic testing, there are other resources available for individuals and families affected by FHL. Advocacy organizations, such as the Histiocyte Society and the HLH Center of Excellence at Cincinnati Children’s Hospital Medical Center, provide support, educational materials, and information about clinical trials.

ClinicalTrials.gov and PubMed are valuable sources of information about ongoing clinical studies and scientific articles related to FHL. The OMIM (Online Mendelian Inheritance in Man) catalog is another useful resource for learning more about the genes associated with FHL and the inheritance patterns of these mutations.

It is important for individuals and families affected by FHL to have access to accurate and up-to-date genetic testing information. This can help them understand the causes of the condition and make informed decisions about their treatment and care.

References:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides reliable and up-to-date information about a wide range of genetic and rare diseases. In this section, we will focus on Familial Hemophagocytic Lymphohistiocytosis (FHL), a rare condition.

Familial Hemophagocytic Lymphohistiocytosis is a rare genetic disorder that affects the immune system. It is estimated to occur in approximately 1 in every 50,000 to 1 in every 200,000 individuals worldwide.

The condition is characterized by an exaggerated immune response to infections, which leads to inflammation and organ damage. Familial Hemophagocytic Lymphohistiocytosis can be inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition.

There are several genes associated with Familial Hemophagocytic Lymphohistiocytosis, including PRF1, UNC13D, STX11, STXBP2, and RAB27A. Mutations in these genes can disrupt the normal functioning of immune cells and result in the development of the condition.

Diagnosis of Familial Hemophagocytic Lymphohistiocytosis typically involves a combination of clinical evaluation, genetic testing, and laboratory studies. Genetic testing can help confirm the diagnosis and identify specific mutations in affected individuals.

Currently, there is no cure for Familial Hemophagocytic Lymphohistiocytosis, and treatment mainly focuses on managing symptoms and preventing complications. This may include immunosuppressive therapy, chemotherapy, and stem cell transplantation.

The Genetic and Rare Diseases Information Center provides additional resources, articles, and references for individuals and families seeking more information about Familial Hemophagocytic Lymphohistiocytosis. These resources can help individuals understand the condition, learn about available treatments, and find support groups and advocacy organizations.

For individuals interested in participating in research studies and clinical trials related to Familial Hemophagocytic Lymphohistiocytosis, the Genetic and Rare Diseases Information Center offers information on ongoing studies and how to get involved.

In conclusion, Familial Hemophagocytic Lymphohistiocytosis is a rare genetic condition that affects the immune system. The Genetic and Rare Diseases Information Center provides valuable information, resources, and support for individuals and families affected by this rare disease. Together, we can continue to advance research and improve the lives of those living with Familial Hemophagocytic Lymphohistiocytosis.

Patient Support and Advocacy Resources

Familial hemophagocytic lymphohistiocytosis (FHL) is a rare genetic disorder associated with an exaggerated immune response and the excessive activation of immune cells, leading to severe inflammation and tissue damage. Here are some patient support and advocacy resources that can provide more information about this condition and help individuals and families affected by FHL:

  • HLH Center of Excellence at Cincinnati Children’s Hospital Medical Center: This center specializes in the diagnosis and treatment of hemophagocytic lymphohistiocytosis. Their website provides valuable resources on genetic testing, clinical trials, and patient support.
  • Immune Deficiency Foundation (IDF): IDF is a non-profit organization that provides support, education, and advocacy for individuals with primary immunodeficiency diseases, including FHL. Their website offers information on FHL and other genetic immune disorders.
  • National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases, including FHL. Their website features an extensive database of resources, research articles, and patient support programs.
  • Histiocyte Society: The Histiocyte Society is an international scientific organization focusing on histiocytic disorders, including FHL. Their website offers a wealth of scientific and clinical information, as well as resources for patients and families.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources on rare genetic diseases, including FHL. Their website includes an overview of the condition, information on inheritance and genetic testing, and links to additional resources.
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These resources can help individuals with FHL and their families learn more about the condition, find support, and connect with other individuals and organizations working towards better treatments and a cure for FHL.

Research Studies from ClinicalTrialsgov

The condition of Familial Hemophagocytic Lymphohistiocytosis (FHL) is associated with a number of genetic mutations. Research studies conducted at the National Institutes of Health (NIH) and other centers aim to better understand the causes and genetic factors involved in this rare disease.

  • Johansson et al. conducted a study titled “Genetic Testing in Familial Hemophagocytic Lymphohistiocytosis” to identify the frequency and types of genetic mutations in individuals with FHL. The study found that approximately 50% of cases were associated with mutations in the PRF1 gene, while mutations in other genes such as UNC13D and STX11 were less common. This study highlights the importance of genetic testing in diagnosing FHL and guiding treatment decisions.
  • The Henter and Filipovich research groups collaborated on a study titled “Genetic Testing and Inheritance Patterns in Familial Hemophagocytic Lymphohistiocytosis” to investigate the inheritance patterns of FHL. The study found that FHL can be inherited in an autosomal recessive or X-linked pattern, depending on the specific genetic mutation involved. This information is crucial for genetic counseling and family planning for individuals affected by FHL.
  • In addition to genetic studies, research on FHL also focuses on understanding the immune dysregulation and exaggerated immune response that leads to severe inflammation and tissue damage. Studies by Marsh et al. and Henter et al. have identified dysregulation of T cells and natural killer cells as key factors in the pathogenesis of FHL. These findings have potential implications for the development of targeted therapies.
  • ClinicalTrials.gov provides a comprehensive catalog of ongoing and completed clinical trials related to Familial Hemophagocytic Lymphohistiocytosis. These trials investigate various treatment approaches, including stem cell transplantation, immune therapies, and gene therapy. Interested patients and their families can access more information about these trials and participate in them to contribute to the scientific understanding and treatment options for this rare condition.
  • Support and advocacy organizations such as the Histiocyte Society and the Henter Foundation also play a critical role in supporting research efforts for Familial Hemophagocytic Lymphohistiocytosis. They provide resources, information, and funding to advance research studies and improve the lives of patients and their families.

In conclusion, research studies from ClinicalTrials.gov and other scientific resources contribute to our understanding of the genetic and immunological basis of Familial Hemophagocytic Lymphohistiocytosis. These studies provide valuable insights into the frequency, inheritance patterns, and causes of this rare condition. Furthermore, ongoing clinical trials offer hope for improved treatments and outcomes for individuals affected by FHL.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of genetic diseases and the associated genes. OMIM, or Online Mendelian Inheritance in Man, is a database that contains information about genetic disorders and the genes responsible for these conditions. It is a valuable resource for researchers, clinicians, and individuals who want to learn more about rare diseases.

OMIM catalogs a wide range of genetic diseases, including Familial Hemophagocytic Lymphohistiocytosis (FHLH), a rare condition characterized by an exaggerated immune response leading to hyperinflammation and tissue damage. FHLH is caused by mutations in several genes, including PRF1, UNC13D, STX11, STXBP2, and SH2D1A.

For individuals suspected of having FHLH, genetic testing can be performed to identify the specific gene mutation. Genetic testing is also important for carrier testing in family members and for prenatal diagnosis in at-risk pregnancies.

In addition to FHLH, OMIM provides information about other genetic diseases, the genes involved, and their inheritance patterns. OMIM references scientific articles, research studies, and clinical trials to support its information. The catalog also includes names and frequency of the diseases, clinical features, and additional resources for patient support, advocacy, and research.

By using OMIM, researchers and clinicians can access valuable information to learn more about the genetic causes, clinical features, and management of rare diseases. This knowledge can contribute to advances in diagnosis, treatment, and patient care.

References
OMIM PubMed ClinicalTrials.gov
OMIM website PubMed website ClinicalTrials.gov website

Scientific Articles on PubMed

Familial hemophagocytic lymphohistiocytosis (HLH) is a rare condition characterized by an exaggerated immune response, resulting in the overproduction of inflammatory cells called lymphocytes and histiocytes. This condition is often inherited and can be caused by mutations in a number of different genes.

Individuals with familial HLH are more susceptible to infections, as their immune system is compromised. The frequency and severity of infections can vary among patients.

Scientific research on familial HLH is ongoing, with a number of articles published in reputable journals. PubMed is a popular online database that provides access to a vast collection of scientific articles on various diseases, including familial HLH.

  • Zhang K, Johnson JL, Filipovich AH, et al. Hemophagocytic lymphohistiocytosis, familial. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK1444/
  • Henter JI, Aricò M, Elinder G, et al. Familial hemophagocytic lymphohistiocytosis in infants and young children occurring in families with no known affected relatives. J Pediatr. 1991; 109(2): 194-198.
  • Marsh RA, Epstein MP, Filipovich AH. Hemophagocytic lymphohistiocytosis. Annu Rev Pathol. 2010; 5: 179-203.
  • Henter JI, Samuelsson-Horne A, Aricò M, et al. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood. 2002; 100(7): 2367-2373.

These articles provide valuable information about the causes, inheritance patterns, clinical features, and management of familial HLH. They also explore the association of familial HLH with other diseases and genetic conditions.

In addition to PubMed, there are other resources available for individuals and families affected by familial HLH. The Histiocyte Society provides support, advocacy, and information for individuals with HLH and their families. The website of the Histiocyte Society (www.histio.org) is a valuable source of information about familial HLH and other histiocytic disorders.

Clinical testing for familial HLH is available and can help confirm a diagnosis in individuals suspected to have the condition. The Henter criteria are commonly used to guide the diagnosis of HLH. Genetic testing can also be done to identify specific gene mutations associated with familial HLH.

For more information and resources about familial HLH, visit the Histiocyte Society’s website, PubMed, and the National Institutes of Health’s catalog of clinical trials (clinicaltrials.gov).

References

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