SURPRISING ERYTHROCYTOSIS RESOLUTION AFTER MYOMECTOMY: MYOMATOUS ERYTHROCYTOSIS SYNDROME.

Myomatous erythrocytosis syndrome (MES) is a rare gynaecological condition associated with the presence of a uterine fibroid and isolated polycythaemia. The main characteristic of MES is that haemoglobin returns to a normal level after removal of the myoma. MES is poorly known and still not fully understood. This case report describes the history of a patient with MES with surprising erythrocytosis resolution after myomectomy. LEARNING POINTS: A case of myomatous erythrocytosis syndrome with a normal erythropoietin level is described, adding to the scarce literature; the mediator responsible for the erythrocytosis is not yet known.This is a rare presentation of a common condition: erythrocytosis and uterine fibroids are frequent in the general population but are only anecdotally correlated.Delayed diagnosis led to unnecessary aggressive treatment with the aim of reducing the haematocrit level to below 45%.

Breaking Stereotypes: Polycythemia Secondary to Shisha Smoking in a Middle-Age Swiss Woman.

The diagnosis of polycythemia, particularly the secondary forms, can be challenging. The distinction between primary and secondary polycythemia is relevant and has management implications. A systematic diagnostic workup algorithm and a good anamnesis are of paramount relevance. More than one cause may be involved in the development of polycythemia, identifying all of them will be the key to better understanding and eventually solving the polycythemia. We describe a case of a 53-year-old Swiss woman with polycythemia and a high level of carboxyhemoglobin. Her medical story included obesity and obstructive sleep apnea. The anamnesis ruled out the habit of smoking cigarettes; however, the patient reported that she was on a trip to Egypt 10 years before and bought herself a shisha; since then, she used to smoke shisha daily, at home, alone. After drastically reducing and then stopping the shisha smoking, 7 months later her blood count and carboxyhemoglobin completely normalized.

Thrombotic and Atherogenetic Predisposition in Polyglobulic Donors.

This work analyses the results of research regarding the predisposition of genetic hematological risks associated with secondary polyglobulia. The subjects of the study were selected based on shared laboratory markers and basic clinical symptoms. JAK2 (Janus Kinase 2) mutation negativity represented the common genetic marker of the subjects in the sample of interest. A negative JAK2 mutation hypothetically excluded the presence of an autonomous myeloproliferative disease at the time of detection. The parameters studied in this work focused mainly on thrombotic, immunological, metabolic, and cardiovascular risks. The final goal of the work was to discover the most significant key markers for the diagnosis of high-risk patients and to exclude the less important or only complementary markers, which often represent a superfluous economic burden for healthcare institutions. These research results are applicable as a clinical guideline for the effective diagnosis of selected parameters that demonstrated high sensitivity and specificity. According to the results obtained in the present research, groups with a high incidence of mutations were evaluated as being at higher risk for polycythemia vera disease. It was not possible to clearly determine which of the patients examined had a higher risk of developing the disease as different combinations of mutations could manifest different symptoms of the disease. In general, the entire study group was at risk for manifestations of polycythemia vera disease without a clear diagnosis. The group with less than 20% incidence appeared to be clinically insignificant for polycythemia vera testing and thus there is a potential for saving money in mutation testing. On the other hand, the JAK V617F (somatic mutation of JAK2) parameter from this group should be investigated as it is a clear exclusion or confirmation of polycythemia vera as the primary disease.

Familial erythrocytosis 2 and von Hippel-Lindau disease in the same pediatric patient / Eritrocitosis familiar 2 y enfermedad de von Hippel-Lindau en el mismo paciente

Abstract Background: Patients with familial erythrocytosis type 2 have no increased risk of von Hippel-Lindau-associated tumors, although mutations in the VHL gene cause both pathologies. Case report: We present a case of a compound heterozygote patient with von Hippel-Lindau disease and familial erythrocytosis type 2. One of the mutations found in our patient, c.416C>G (p.Ser139Cys) of the VHL gene, has not been previously reported. This case is the second one reported where von Hippel-Lindau disease and familial erythrocytosis type 2 coexist in the same individual. Conclusions: Despite the low frequency of familial erythrocytosis type 2 in patients with von Hippel-Lindau disease, the possibility of this diagnosis should be considered to avoid unnecessary invasive studies to explain the polyglobulia in these patients and guarantee an adequate follow-up and vigilance of both diseases.

Resumen Introducción: Los pacientes con eritrocitosis familiar tipo 2 no muestran un riesgo incrementado de desarrollar tumores asociados con la enfermedad de von Hippel-Lindau, a pesar de que ambas afecciones están causadas por variantes patogénicas en el gen VHL. Caso clínico: Se presenta el caso de un paciente heterocigoto compuesto con enfermedad de von Hippel-Lindau y eritrocitosis familiar tipo 2. Una de las variantes patogénicas en el paciente, VHL c.416C>G (p.Ser139Cys), no ha sido previamente reportada. Este es el segundo reporte de caso en que la enfermedad de von Hippel-Lindau y la eritrocitosis familiar tipo 2 coexisten en el mismo individuo. Conclusiones: A pesar de la baja frecuencia de la eritrocitosis familiar tipo 2 en pacientes con enfermedad de von Hippel-Lindau, la posibilidad del diagnóstico debe considerarse con el fin de evitar estudios invasivos innecesarios para explicar la presencia de poliglobulia en estos pacientes y para garantizar un adecuado seguimiento y una correcta vigilancia de ambas enfermedades.

Effect of haemoglobin levels on outcome in intravenous thrombolysis-treated stroke patients.

INTRODUCTION: Alterations in haemoglobin levels are frequent in stroke patients. The prognostic meaning of anaemia and polyglobulia on outcomes in patients treated with intravenous thrombolysis is ambiguous. PATIENTS AND METHODS: In this prospective multicentre, intravenous thrombolysis register-based study, we compared haemoglobin levels on hospital admission with three-month poor outcome (modified Rankin Scale 3-6), mortality and symptomatic intracranial haemorrhage (European Cooperative Acute Stroke Study II-criteria (ECASS-II-criteria)). Haemoglobin level was used as continuous and categorical variable distinguishing anaemia (female: <12 g/dl; male: <13 g/dl) and polyglobulia (female: >15.5 g/dl; male: >17 g/dl). Anaemia was subdivided into mild and moderate/severe (female/male: <11 g/dl). Normal haemoglobin level (female: 12.0-15.5 g/dl, male: 13.0-17.0 g/dl) served as reference group. Unadjusted and adjusted odds ratios with 95% confidence intervals were calculated with logistic regression models. RESULTS: Among 6866 intravenous thrombolysis-treated stroke patients, 5448 (79.3%) had normal haemoglobin level, 1232 (17.9%) anaemia - of those 903 (13.2%) had mild and 329 (4.8%) moderate/severe anaemia - and 186 (2.7%) polyglobulia. Anaemia was associated with poor outcome (ORadjusted 1.25 (1.05-1.48)) and mortality (ORadjusted 1.58 (1.27-1.95)). In anaemia subgroups, both mild and moderate/severe anaemia independently predicted poor outcome (ORadjusted 1.29 (1.07-1.55) and 1.48 (1.09-2.02)) and mortality (ORadjusted 1.45 (1.15-1.84) and ORadjusted 2.00 (1.46-2.75)). Each haemoglobin level decrease by 1 g/dl independently increased the risk of poor outcome (ORadjusted 1.07 (1.02-1.11)) and mortality (ORadjusted 1.08 (1.02-1.15)). Anaemia was not associated with occurrence of symptomatic intracranial haemorrhage. Polyglobulia did not change any outcome. DISCUSSION: The more severe the anaemia, the higher the probability of poor outcome and death. Severe anaemia might be a target for interventions in hyperacute stroke. CONCLUSION: Anaemia on admission, but not polyglobulia, is a strong and independent predictor of poor outcome and mortality in intravenous thrombolysis-treated stroke patients.

Testosterone replacement therapy (TRT) and its effect on bone marrow. How serious is it and is there a true polyglobulia?

INTRODUCTION: TRT in men with testosterone deficiency syndrome (TDS) had multiple positive effects and restore a quality of life of affected men. Polyglobulia is the most common dose-limiting adverse effect of TRT, but the mechanisms of TRT-mediated erythropoesis remain unclear. In this study, we evaluated long term haematological side effects of TRT: polyglobulia, elevated hemoglobin (Hb) and haematocrit (Ht). METHODS: In a cross-sectional descriptive study, the authors treated 69 men with TDS and the average age 59 years and the follow-up period 81.32 months. The men were treated with three-month i.m. injections of 1000 mg testosterone undecanoate. The elevated values were: Hb above 176 g/l, Ht above 0.52 and erythrocytes (Ery) above 6.0 mil/mcl. RESULTS: 21 out of 69 patients (30.43 %) had an increased Hb, Ht or Ery during treatment. The interesting fact was that only five men (7.24 %) had increased the number of Ery (true polyglobulia). No men with elevated level of Hb, Ht or Ery had other side effects (like thrombosis). CONCLUSION: It is still not clear, why in some men on TRT the feedback does not work and bone marrow production of red blood cells continues even if the upper limit is reached. Authors expect that only 7% of men had true polyglobulia, other men had elevated Hb or Ht. Based on our own experience we recommend a regular check of men on TRT on order to avoid possible serious side-effects (Tab. 1, Fig. 2, Ref. 25).