Familial thrombocytosis in infancy presenting with a leukaemoid reaction

Abstract

Familial thrombocytosis (FT) is a hereditary disorder probably involving the regulation of megakaryopoiesis. This report is the first documented case of FT in infancy. The clinical course was complicated by a leukaemoid reaction which lasted for several months, in combination with failure to thrive and hepatosplenomegaly. At the age of 5 years the patient, with the exception of thrombocytosis, is healthy and without medication.

A family with hereditary thrombocythaemia and normal genes for thrombopoietin and c‐Mpl

“…As shown in Table I, all the affected members had elevated platelet counts and normal hemoglobin levels. In addition, an increased WBC count was observed in all the affected family members, similar to previously published reports on HT (Kikuchi et al , 1995; van Dijken et al , 1996; Kunishima et al , 1998; Wiestner et al , 1998, 2000).…”

Essential thrombocythaemia in children

“…It is unclear from the literature whether FT is a separate entity with its own pathogenesis, course and outcome. Malignant transformation was reported once, in a 63‐year‐old patient with FT (Slee et al , 1981), and thrombohaemorrhagic complications have been described (Cohen et al , 1997; Eyster et al , 1986; Fernandez‐Robles et al , 1990; Kikuchi et al , 1995; Schlemper et al , 1994; Slee et al , 1981; van Dijken et al , 1996; Williams & Shahidi, 1991). However, children with FT seem to have a more benign course than ET patients in non‐familial cases, which suggests that FT is a separate form of primary thrombocytosis.…”

“…This review summarizes the clinical and laboratory characteristics and management of ET in children, based on a review of 40 paediatric cases reported in the English literature up to September 1998 (Amato & Freedman, 1984; Barnhart et al , 1980; Chintagumpala et al , 1991; Cohen et al , 1997; Eyster et al , 1986; Fernandez‐Robles et al , 1990; Fickers & Speck, 1974; Freedman et al , 1973; Hermann et al , 1998; Hoagland & Silverstein, 1978; Host & Saunamaki, 1992; Kapoor et al , 1996; Kikawa et al , 1998; Kikuchi et al , 1995; Lackner et al , 1998; Lahuerta‐Palacios et al , 1988; Linch et al , 1982; Lumley, 1971; Mitus et al , 1990; Ozer et al , 1960; Sceats & Baitlon, 1980; Schlemper et al , 1994; Slee et al , 1981; Spach et al , 1963; van Dijken et al , 1996; Williams & Shahidi, 1991; Yoshida et al , 1998), and on experience with the disease at our institution (two patients; Dror et al , 1999). The review discusses the similarities and differences of the disease in adults and children, and its familial occurrence.…”

Hereditary thrombocytosis not as innocent as thought? Development into acute leukemia and myelofibrosis

“…Two other affected members of the same family should be mentioned: one, patient IV/3 displayed a leukemoid reaction at birth (leukocytes 60 ϫ 10 9 /L) that persisted for 1 year, but normal at follow-up. 4 The other, patient II/3, had dry tap during follow-up; however, re-examination of the bone marrow showed only a mild increase in reticulin fibers. 5 Malignant progression of HT due to overproduction of Tpo has not been reported previously.…”