HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1

Question 1

What is  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS,  FAMILIAL, 1?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Familiäre hämophagozytische Lymphohistiozytose 1; FHL

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 267700

Question 4

Which enzymes are involved?

Accepted Answer

hyperactive phagocytes and defects in natural killer cell function

Disease	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1
Synonym	FHL1
OMIM	267700 OMIM = Online Mendelian Inheritance of Men
Orphanet	540
Gene locus	9q21.3-q22 Detail information to gene locus by the National Center for Biotechnology Information NCBI: Hemophagocytic lymphohistiocytosis, familial, 1
ICD	D76.1
Summary	rare autosomal recessive
Laboratory findings	Ferritin inc (serum) Fibrinogen dec (serum) Soluble interleukin 2 receptor (sCD25) inc (blood) Triglycerides inc (serum)
Symptoms	ascites bleeding tendencies, hemorrhages Coagulopathy/Coagulation factors fever hepatomegaly (large liver) liver failure onset, infancy onset, neonatal pancytopenia splenomegaly (large spleen) thrombopenia, thrombocytopenia