Gaucher-like Cells in Thalassemia Intermedia: Is It a Challenge?

We describe two cases of thalassemia intermedia (TI) patients with the presence of Gaucher-like cells in hematopoietic tissue biopsies, raising diagnostic dilemmas. The first is a 56-year-old female with bone lesions, splenomegaly, hypochromic microcytic anemia and Gaucher-like cells in the bone marrow, with a final diagnosis of TI, and the second is a 69-year-old male with TI, monoclonal gammopathy of undetermined significance (MGUS) that accelerated to multiple myeloma (MM) requiring treatment, bone disease and Gaucher-like cells in the bone marrow and the spleen, and heterozygoty of Gaucher disease (GD). Gaucher-like cells are difficult to differentiate from true Gaucher cells, that are the hallmark of GD suspicion. These cells are usually reported in the lymphohematopoietic system. They have been described in myeloproliferative disorders, hematological malignancies, infectious diseases, hemoglobinopathies and other hemolytic anemias. The presence of Gaucher-like cells in patients with thalassemia major has been well documented, whereas there are limited references regarding cases with thalassemia intermedia. The identification of these cells in thalassemia probably reflects the high cell turnover. The bony complications in GD and TIare not yet fully explained in the literature, and this raises the question of whether Gaucher-like cells could play a pathogenetic role in the bone disease of thalassemia, as Gaucher cells are considered to play a similar role in bone complications of GD. Moreover, given the rarity and similarity of Gaucher and Gaucher-like cells, we would like to highlight that the presence of Gaucher-like cells in the bone marrow should not be overlooked, as they might be obscuring an underlying pathology, in order to ensure that hematologists, internists and hematopathologists will be promptly and accurately diagnosed.

Outcomes of pregnancies in patients with Gaucher Disease: The experience of a center of excellence on rare metabolic Disease-Gaucher Disease, in Greece.

OBJECTIVE: Pregnancy is reported to exacerbate manifestations in women with Gaucher Disease (GD). The objective of our study was to examine the outcome of pregnancies of Caucasian women with GD in a Greek Center of Excellence on GD. STUDY DESIGN: Fifteen GD women were enrolled. All data were collected by questionnaire: fertility, normal pregnancies, spontaneous-elective-therapeutic abortions, maternal -neonatal status, birth weight and chromosomal abnormalities. RESULTS: Forty-one pregnancies were reported among 15 women: mean conception age (±SD) 27.7 ±â€¯5.8years (range 17-42years). Thirty-seven conceptions were spontaneous, 4 were after in vitro fertilization (IVF). Twenty three out of the 41 (56.1 %) pregnancies were normal. Eleven out of the 41 (26.8 %) pregnancies resulted in spontaneous abortions, 3 out of 41 (7.3 %) in elective and 3 out of 41 (7.3 %) in therapeutic abortions. Therapeutic abortions were due to worsening of GD manifestations, fetal chromosomal abnormalities and GD type 2 embryo. Nine out of 15 women had maternal complications: gestational diabetes, splenomegaly, hepatomegaly, thrombocytopenia, osteoporosis and postpartum hemorrhage. Twenty three out of the 41 pregnancies resulted in live births. Nine out of the 23 (39.1 %) deliveries were caesarian sections and 14 out of 23 (60.9 %) were vaginal. The total number of neonates was 24 (14 females / 10 males). Mean gestational age on delivery (± SD) was 35.9 ±â€¯3.1 weeks (range 26-38 w). Average female birth weight (±SD) was 2671.4 ±â€¯851.6 g (range 900-4100 grams) and male was 3333 ±â€¯996.4 g (range 1930-4700 grams). Nine out of 24 (37.5 %) neonates had low birth weight. Average low birth weight (±SD) was 1931.1 ±â€¯420.52 g (range 900-2300 grams). Twenty out of the 24 (83.3 %) neonates were healthy. Four out of 24 neonates had neonatal complications: two neonates had GD type 1, one had GD type 3 and one neonate died two days after delivery (it was born at 26 weeks). Four neonates were hospitalized in incubators at the intensive neonatal care unit due to low birth weight. Thirty-nine women did not receive enzyme replacement therapy for GD during pregnancy, while, in two pregnancies, treatment was discontinued during the first trimester and re-administered after that. Mean first menarche age (±SD) was 13.6 ±â€¯0.7 years. Thirteen out of 15 women were menopausal, mean menopausal age (± SD) 466 ±â€¯2.6 years. CONCLUSION: Most of GD women experience uncomplicated pregnancies and deliver normal, healthy infants, although the rate of complications and the rate of abortions is high in this population.