12th Congress of the European Hematology ... - Haematologica

to-pelvic or perineal trauma. No metabolic disorders were detected. CT
scan and MRI showed evidence of a L4-L5 lumbar hernia, without signs
of spinal cord injury. No history of consanguinity and no family history
suggestive of haemolysis or perinatal oedema. Hb 14.5-15.4 g/dL, MCV
104-111 fL, MCH 34-39 pg, MCHC 35-35.5 g/dL, Reticulocytes 4.8-
9.2%. Spherocytes and stomatocytes in peripheral blood smear. DAT
negative. Persistent hyperbilirrubinemia. Negative screen for thrombophilic
risk factors. Ecktacytometry studies confirmed the DHS diagnosis.
Summary/conclusions. Being a rare condition, to the best of our
knowledge, this is the first report of recurrent venous-occlusive priapism
as a thrombotic manifestation of DHS after splenectomy. It emphasizes
the need of an accurate differential diagnosis between DHS and other
chronic haemolytic conditions when assessing the possible benefit of
splenectomy.
1161
IDIOPATHIC THROMBOCYTOPENIC PURPURA (ITP) PRESENTING IN A PATIENT
WITH UNDIAGNOSED KLINEFELTERS SYNDROME
I. Kyrou, E. Poulakidas, E. Kalyveza, E. Papakonstantinou,
E. Michalakeas, C. Poziopoulos
401 General Military Hospital of Athens, ATHENS, Greece
Background. Klinefelter’s syndrome is one of the most common genetic
disorders (1 in 500-1000 live male births), typically caused by a chromosome
nondisjunction that results in the presence of an additional X
chromosome (47, XXY or XXY syndrome). The diagnosis of the syndrome
is often delayed until puberty, while several cases remain undiagnosed.
Klinefelter’s syndrome exhibits a well-established association
with malignant germ cell tumors and breast cancer in men, yet, there
are limited reports on its effects on hemopoiesis. Aim. To report a rare
case of idiopathic thrombocytopenic purpura in a patient with a previously
undiagnosed Klinefelter’s syndrome. Case report. A 20-year-old
man was admitted because of epistaxis, a large ecchymosis on the left
flank and bilateral symmetrical petechiae over his distal lower extremities.
His history was otherwise unremarkable and he denied any recent
trauma and drug use. Clinical examination also revealed obesity (BMI:
32 kg/m2 ), sparse body hair, mild gynecomastia, small testes and tall
stature (1.91 m) that was 24 cm higher than the mean height of the parents.
The peripheral blood count showed only thrombocytopenia
(platelets: 38000/mm3 ), while the bone marrow examination yielded
normocellular marrow with an increased number of megakaryocytes.
Hormonal tests revealed low plasma testosterone levels with concomitant
increased values of LH and FSH. Bone marrow cytogenetic analysis
demonstrated an abnormal male karyotype with an additional X
chromosome (47, XXY). Results. The patient was diagnosed with idiopathic
thrombocytopenic purpura and Klinefelter’s syndrome. The initial
treatment consisted of high doses of intravenous immunoglobulin
(IVIG) for five days and glucocorticoids that were tapered over the following
4 weeks. Clinical remission of the bleeding diathesis was documented
by the end of the IVIG administration and the platelet count
progressively rose to almost normal levels (platelets: 120000/mm3 to
150000/mm3 ). The patient remains asymptomatic four months after
the diagnosis, with platelet counts consistently over 100000/mm3 , while
he was also placed on testosterone replacement therapy for the hypergonadotrophic
hypogonadism. Frequent follow-ups have been scheduled
to monitor for recurrence of thrombocytopenia and other possible
defects of hemopoiesis. Conclusions. Rare reports in the literature associate
Klinefelter’s syndrome with various hematologic malignancies,
including acute and chronic types of leukaemia, myelodysplastic syndromes
and lymphomas, yet, there are only two previous published
cases of this genetic disorder combined with idiopathic thrombocytopenic
purpura. The variable and often subtle phenotypic expression
of the Klinefelter’s syndrome explains why the diagnosis of this common
chromosomal defect may first be made during the diagnostic
work-up for hematologic malignancies. Acute isolated thrombocytopenia
in patients with Klinefelter’s syndrome, apart from idiopathic, may
also indicate a preleukemic state, hence, meticulous monitoring is warranted
in order to promptly detect any other possible underlying hemopoietic
defects.
12 th Congress of the European Hematology Association
1162
REMISSION INDUCED BY INTERFERON α + THALIDOMIDE+ZOLEDRONIC ACID IN A
PATIENT WITH MASSIVE HAEMANGIOMATOSIS OF BONE, MEDIASTINUM AND
RETROPERITONEUM IN ADULT. A CASE REPORT
Z. Adam1 , L. Krikavova2 , L. Pour2 , M. Navratil2 1 2 University Hospital Brno, BRNO, Czech Republic; University Hospital Brno,
BRNO, Czech Republic
Generalized haemangiomatosis in adults is a very rare disorder. The
progression of haemangiomas may cause organ impairment and disseminated
intravascular coagulopathy. The treatment modalities are in
this disease rather limited. We are describing treatment of a young man,
that induced remission on CT scans and disappearance of coagulopathy.
The young man had been complaining since his 25th year of age
about pain in backbone, pelvis and hips. In his 28th year of age he was
send to hematological department with anemia for examination. CT
examination of thorax and abdomen has shown pathologic mass in
retroperitoneum and in mediastinum. Diagnostic laparothomy was
made because of pathologic mass on CT examination and consequently
diagnosis of haemangiomatosis was made. Later CT examination of
backbone proved destruction of vertebrae Th 8, 10, 11 a 12. The CT signal
was typical for haemagiomas. The patient has a massive coagulopathy
with very low fibrinogen, high D-dimers as results of DIC. Inteferon
α therapy started in June 2005, the dose at the beginning was 5-6 mil.
IU 3time a week. After one year of therapy only a small regression was
found on CT, but he was without bone pain he suffered from before the
treatment. Combined therapy with interferon α 3 mil IU 3time weekly,
thalidomide 100-200 mg daily and zoledronate began in June 2006.
This therapy was stopped after half a year because this young man
desired to have a child. Only small residual pathologic mass has been
found in retroperitoneum on the control CT evaluations. The patient
has normal value of fibrinogen and D-dimmers are only slightly elevated.
Results. Interferon α and zoledronate administered for one year have
only limited effect, the combination of interferon α, zoledronate and
thalidomide led to near complete regression of haemangiomas and normalization
of coagulopathy. Conclusion. Therapy with interferon α in
combination with thalidomide and zoledronate is very useful therapy
for generalized heamangiomatosis with mediastinal and abdominal
pathologic mass and bone destruction caused by bone-heaemangiomas.
1163
OUTCOME OF FIVE PATIENTS WITH CHRONIC MYELOID LEUKEMIA AFTER IMATINIB
MESYLATE DISCONTINUATION
E. Tóthová, 1 A. Kafková, 2 M. Surová2 1University UPJ, KOSICE, Slovak Republic; Faculty Hospital L.Pasteur,
KOSICE, Slovak Republic
Background. Imatinib mesylate (IM) therapy is effective and leads to a
complete cytogenetic response in the majority of patients with chronic
myeloid leukaemia (CML). However, wheather it should be discontinuated
in patients who achieve substained molecular response is debated.
We describe five patients with undetectable levels of BCR-ABL transcripts
in whom IM therapy was discontinuated. Methods. Between January
2001 and October 2006 we treated 53 CML patients (pts) with Imatinib
mesylate: 38 were IFNα pretreated pts in late chronic phase and 15
were newly diagnosed pts in early chronic phase. 39 (74%) achieved a
complete cytogenetic response and in 10 of them (26%) BCR-ABL transcripts
became undetectable. In 2 case Imatinib was discontinued
because of the pts intolerance; in 2 pts was discontinued because of toxic
effects; in 1 patient was IM discontinued because of the patient
request. All pts were pretreated with IFNα, no patient had a family donor
for allotransplant or was a candidate for an unrelated transplant at the
time of IM withdrawal. Results. All pts had been in subtained CCR for
12 to 23 months and in complete molecular response (CMR) for 9 to 18
months. All pts showed normal bone marrow and none of them had
additional cytogenetic abnormalities. Three pts relapsed after 6,7 and 9
months and promtly responded after restarting imatinib therapy (400 mg
daily). Two pts are off therapy at the last follow-up visit after 24 and 36
months and are still in complete molecular remission. Conclusions.
Although the follow-up of our patients is short, the improvement quality
of life while off therapy and the prompt response to resumed IM therapy
suggest that the subset of patients who have sustained complete
molecular response may be candidates for intermittent therapy. Future
studies should determine the optimal duration of BCR-ABL negativity
before IM therapy can be safety discontinued.
haematologica/the hematology journal | 2007; 92(s1) | 427