Hemophagocytic Lymphohistiocytosis

Autosomal RecessiveX-LinkedImmune/AntibodyOMIM 267700

antibody/infmyop.htm#Hemophagocytic Lymphohistiocytosis 41

Overview

From WUSTL Neuromuscular

Hemophagocytosis: General Definition: Activated macrophages, engulf erythrocytes, leukocytes, platelets & precursor cells Clinical Fever, persistent: 60% to 100% Pancytopenia Organomegaly Splenomegaly: 35% to 100% Hepatomegaly: 39% to 97% Lymphadenopathy: 17% to 52% CNS: 7% to 47% Seizures Cerebral edema Delayed development Rash: 3% to 65% Myalgias Hemophagocytosis: Bone marrow, liver, lymph nodes, brain Laboratory Liver function tests: Abnormal; Especially LDH (90%) Serum ferritin (macrophage activation marker): High (90%); Reflects disease activity Coagulopathy Pancytopenia Hypertriglyceride

OMIM Entries

OMIM #267700 OMIM #603553 OMIM #170280 OMIM #608898 OMIM #608897 OMIM #603552 OMIM #605014 OMIM #214500 OMIM #214450 OMIM #308240 OMIM #246400 OMIM #611775

External Resources

WUSTL Neuromuscular

Washington University Disease Center

OMIM

Online Mendelian Inheritance in Man

PubMed

Biomedical Literature

GeneReviews

NCBI Expert-Authored Reviews

Orphanet

Portal for Rare Diseases

NORD

National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.