Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells in the bone marrow, a process called hemophagocytosis. As a result, affected individuals have low numbers of red blood cells (anemia) and a reduction in the number of platelets, which are involved in clotting. A reduction in platelets may cause easy bruising and abnormal bleeding.The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience irritability, delayed closure of the bones of the skull in infants, neck stiffness, abnormal muscle tone, impaired muscle coordination, paralysis, blindness, seizures, and coma. In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. Affected individuals also have an increased risk of developing cancers of blood-forming cells (leukemia and lymphoma).Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. They usually occur when the immune system launches an exaggerated response to an infection, but may also occur in the absence of infection. Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months.

Different Conditions


Immune dysregulation diseases with immunodeficiency

A disease caused by determinants arising after birth, during the antenatal period or genetically inherited factors leading to uncontrolled proliferation of activated lymphocytes and macrophages. This disease is characterised by increased proliferation of morphologically benign lymphocytes and macrophages that secrete high amounts of inflammatory cytokines. This disease may present with fever, rash, jaundice, splenomegaly, lymphadenopathy, histiocytosis, hemophagocytosis, or cytopenia.

Organ Affected

Lymphoreticular (qualifier value)

Abbreviated Terms

  • Histiocytoses of mononuclear phagocytes
  • Also Known As

  • Haemophagocytic syndrome
  • Related ICD 10 COde
    ICD 10 Code D76.1


    Primary haemophagocytic lymphohistiocytosis

    This type, caused by mutations in RAB27A presents with pigmentary dilution and immunodeficiency

    Also Known As

  • Hypopigmentation - immunodeficiency, with or without neurological impairment
  • Partial albinism and immunodeficiency syndrome
  • GS2 (MIM 607624)
  • Related ICD 10 COde
    ICD 10 Code D76.1

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