Hemophagocytic Lymphohistiocytosis, Familial, 1

Alternative Names

  • FHL1
  • HPLH1
  • HLH1
  • Hemophagocytic Lymphohistiocytosis, Familial
  • FHL
  • FHLH
  • HPLH
  • Reticulosis, Familial Histiocytic
  • Hemophagocytic Reticulosis, Familial
  • Erythrophagocytic Lymphohistiocytosis, Familial
  • FEL
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

OMIM Number

267700

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q21.3-q22

Description

Familial hemophagocytic lymphohistiocytosis (FHL) is a lethal disorder of immune regulation, characterized by uncontrolled T-lymphocyte and macrophages activation. This would lead activated T-lymphocyte and macrophages to infiltrate the liver, spleen, bone marrow, and central nervous system resulting in a multisystem disorder with early onset infancy. The main features of the disease are: a high, persistent or intermittent fever, splenomegaly, cytopenia (anemia, thrombocytopenia, neutropenia, and leucopenia), hypertriglyceridemia, hypofibrinogenemia, hyperferritinemia, and hemophagocytosis in the bone marrow, spleen or lymph nodes by activated macrophages. 

FHL exhibits genetic heterogeneity, it is caused by several genes: one is located in 10q21-22 (PRF1), a second in 17q25.1 (UNC13D), a third in 6q24 (STX11), while another gene is located in 9q21.3-q22 region, but the gene responsible for the FHL1 in this region is not identified.

Epidemiology in the Arab World

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Other Reports

Iraq

Stark et al. (1984) described 11 patients with FHL in four Jewish families of Iranian and Iraqi origin. Parental consanguinity was positive in three of these families.

Lebanon

Alsaied et al. (2011) described two sisters with classic features of FLH born to first cousin consanguineous parents. In addiiton, both sisters showed distinct facial dysmorphic features, including full cheeks, shallow orbits, and high arched palate, with clenched hands and feet. 

Saudi Arabia

Ohadi et al. (1999) described a Saudi male patient affected by FHL, product of a first-cousin consanguineous union. Molecular analysis showed that the kindred did not map to the 9q21.3-22 locus.

Elyamany et al., (2016) conducted a study between January 2005 and December 2014 in Saudi Arabia to analyze the data of hemophagocytic lymphohistiocytosis patients.  Of the twelve patients, nine were born to a consanguineous family; and a positive family history was noted in 41% of the cases. 

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