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Hemophagocytic lymphohistiocytosis, familial, 5(FHL5)

MedGen UID:
416514
Concept ID:
C2751293
Disease or Syndrome
Synonyms: FHL5
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, Orphanet
Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity).
 
Gene (location): STXBP2 (19p13.2)
OMIM®: 613101

Disease characteristics

Excerpted from the GeneReview: Hemophagocytic Lymphohistiocytosis, Familial
Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals. [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Characteristics  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Kejian Zhang  |  Alexandra H Filipovich  |  Judith Johnson, et. al.   view full author information

Additional description

From GHR
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 blood cells involved in clotting (platelets). 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.  http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis

Clinical features

Hepatosplenomegaly
MedGen UID:
504839
Concept ID:
CN001310
Finding
Simultaneous enlargement of the liver and spleen.
Hemophagocytosis
MedGen UID:
86219
Concept ID:
C0302486
Finding
Erythrophagocytosis; phagocytosis of erythrocytes.
Abnormal natural killer cell physiology
MedGen UID:
489652
Concept ID:
CN167903
Finding
A functional anomaly of the natural killer cell.
Hypertriglyceridemia
MedGen UID:
43788
Concept ID:
C0020557
Finding
A condition of elevated levels of TRIGLYCERIDES in the blood.
Increased serum ferritin
MedGen UID:
69130
Concept ID:
C0241013
Finding
Episodic fever
MedGen UID:
500916
Concept ID:
CN001768
Finding
Periodic (episodic or recurrent) bouts of fever.
Abnormal natural killer cell physiology
MedGen UID:
489652
Concept ID:
CN167903
Finding
A functional anomaly of the natural killer cell.
Hemophagocytosis
MedGen UID:
86219
Concept ID:
C0302486
Finding
Erythrophagocytosis; phagocytosis of erythrocytes.
Hepatosplenomegaly
MedGen UID:
504839
Concept ID:
CN001310
Finding
Simultaneous enlargement of the liver and spleen.
Abnormal natural killer cell physiology
MedGen UID:
489652
Concept ID:
CN167903
Finding
A functional anomaly of the natural killer cell.

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