The etiology of familial hemophagocytic lymphohistiocytosis (FHL), which is characterized by fever, hepatosplenomegaly, pancytopenia, and coagulopathy, remains unknown.
We analyzed 43 FHL patients, all with affected siblings, in 18 families who were identified during the period 1986-1995 in Japan.
The presence of consanguinity was evident in two families (11%). The majority of families lived in western Japan, where the frequency of consanguineous marriage is high.
The incidence of FHL was significantly higher in the western island, Kyushu, than in other areas.
The segregation ratio calculated for these families was 0.35 by the Weinberg proband method, showing the autosomal-recessive inheritance of the disease.
Since the diagnosis of an FHL patient without affected siblings (sporadic case) is quite difficult, we calculated the possible number of sporadic cases ; approximately 122 patients could be identified as sporadic FHL cases during the same period in Japan.
Most of the clinical and laboratory findings were not distinguishable from those of other types of lymphohistiocytosis.
However, atypical lymphoid cells with azurophilic granules in peripheral blood were observed in half of the patients at diagnosis, suggesting the clinical importance of this parameter for early diagnosis. (...)
Mots-clés Pascal : Lymphohistiocytose hémophagocytique, Etude familiale, Consanguinité, Incidence, Epidémiologie, Analyse ségrégation, Répartition géographique, Japon, Asie, Cellule lymphoïde, Atypique, Diagnostic, Greffe, Homogreffe, Moelle osseuse, Traitement, Enfant, Homme, Hémopathie, Maladie héréditaire
Mots-clés Pascal anglais : Hemophagocytic lymphohistiocytosis, Family study, Consanguinity, Incidence, Epidemiology, Segregation analysis, Geographic distribution, Japan, Asia, Lymphoid cell, Atypical, Diagnosis, Graft, Homograft, Bone marrow, Treatment, Child, Human, Hemopathy, Genetic disease
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0212741
Code Inist : 002B19D. Création : 11/09/1998.