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PubMed2003

[Inherited polycythemia].

PURPOSE: The majority of polycythemias occurs sporadically without any other familial case. Very occasionally polycythemia finds a familial support. This work is a review of the actual knowledge about inherited polycythemias. CURRENT KNOWLEDGE AND KEY POINTS: Although polycythemias linked to a anomaly of the haemoglobin affinity for oxygen are well understood (haemoglobin mutants with high oxygen affinity, 2-3 Diphosphoglycerate deficiency and methemoglobinemia), so called primary polycythemias (above all primary familial and congenital polycythemias) just begin to find an explanation for ten years (erythropoietin receptor gene mutation). FUTURE PROSPECTS AND PROJECTS: Progressively, the part of really idiopathic polycythemias is smaller and smaller. Although most of mechanisms to explain congenital polycythemias are understood, some of them are still unresolved (Chuvash polycythemia, the majority of primary familial and congenital polycythemias).

Hemoglobins↗
PubMed1996

"Benign erythrocytosis" and other familial and congenital polycythemias.

The term familial and congenital polycythemia encompasses a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass since birth and/or similar phenotype also present in relatives. In the last 2 decades the differential diagnosis between primary and secondary familial polycythemias became more physiologically relevant as new sensitive techniques, such as accurate measurements of serum erythropoietin (S-EPO) concentration by radioimmunoassay (RIA) or ELISA, and assessment of growth of erythroid progenitor cells in vitro became available. Consequently, correct classification of many older previous reports of familial polycythemias is difficult. While familial secondary polycythemias due to high oxygen affinity hemoglobin mutants are not infrequent and have been well delineated in terms of molecular pathophysiology and phenotype during the last 3 decades, those secondary familial polycythemias due to 2,3 DPG deficiency are very rare. Familial and congenital polycythemias with increased EPO concentration and normal arterial oxygen saturation and oxygen dissociation kinetics represent an intriguing group of disorders wherein the molecular lesions remain obscure; however, in some instances a possibility of abnormal oxygen sensing pathway involving hypoxia inducible factor-1 (HIF-1) open an intriguing yet unexplored area of hematology and biology. In contrast the primary familial and congenital polycythemia (PFCP) has been only recently recognized (the first report published in 1977). Various designations have been used in the past to describe PFCP, a rare clinical syndrome, including: benign familial erythrocytosis, polycythemia vera of childhood, primary polycythemia, pure erythrocytosis, etc. Some of these terms stressed the relatively benign, non-progressive course of the disease with a normal lifespan of affected subjects; however, the apparent benignity of some of these disorders has been questioned. These disorders are familial and/or congenital, and the clinical and laboratory evidence of secondary polycythemias must be excluded. Only about 2 dozen familial and sporadic cases with PFCP have been reported. However, the mutations of erythropoietin receptor (EPOR) found in some of families with PFCP represent the only defined molecular defect of primary polycythemic phenotypes. All reported PFCP associated EPOR mutations result in truncation of its intracytoplasmic C-terminal domain which negatively regulates the EPO/EPOR signal transduction pathway. Subjects with these mutations have decreased or normal S-EPO and increased sensitivity of erythroid progenitor cells to low EPO concentrations in in vitro assays. Mutations of other genes involved in post EPOR signaling pathway such as JAK-2, HCP and STAT 5 may also play a causative role in pathogenesis of some of PFCP families where mutation of EPOR was not found.

2,3-Diphosphoglycerate↗
PubMed1981

Serum erythropoietin (ESF) titers in polycythemia.

Serum ESF titers were measured in 42 polycythemic patients using the fetal mouse liver cell bioassay. ESF titers in patients with secondary polycythemia differed significantly from those in patients with polycythemia vera (p less than 0.0001). Among the 21 patients with secondary polycythemia, 1 patient had an ESF titer less than 10 mU/ml (the lower limit of sensitivity) and 20 had ESF titers that ranged between 11 and 112 mU/ml, with a mean titer of 56 mU/ml. Among the 21 patients with polycythemia vera, 13 patients had ESF titers less than 10 mU/ml and 8 had ESF titers ranging between 12 and 55 mU/ml, with a mean titer of 26 mU/ml. The mean hemoglobin concentration in the 8 patients with ESF titers greater than 10 mU/ml was significantly below that in the 13 polycythemia vera patients with ESF titers less than 10 mU/ml (p less than 0.03). If ESF titers less than 10 mU/ml had been indicative of polycythemia vera and ESF titers greater than 10 mU/ml had been indicative of secondary polycythemia in patients with hemoglobin concentrations greater than 17.7 g/dl, but not indicative of either condition in patients with hemoglobin concentrations less than 17.7 g/dl, 71.5% of the polycythemic patients in this study would have been diagnosed correctly, 9.5% incorrectly, and in the 19% the diagnosis would have remained uncertain. It was concluded that measurement of serum ESF titers using this in vitro bioassay can be of clinical importance in differentiating between polycythemia vera and secondary polycythemia.

Adult↗
PubMed1994

Mutation in the negative regulatory element of the erythropoietin receptor gene in a case of sporadic primary polycythemia.

A 42-year-old Caucasian male with sporadic primary polycythemia has been followed by us for 13 years. During the time of observation, his hemoglobin had been stable, and he has never had an elevated white count or platelet count or any other stigmata of polycythemia vera (PV). Both of his parents, his three children, and all siblings have been hematologically normal. The in vitro culture of erythroid progenitors revealed an absence of autonomous erythropoietin (Epo)-independent erythroid colonies but demonstrated a marked increase in the sensitivity of erythroid progenitors to Epo. We have undertaken a study designed to determine whether a mutation in the Epo receptor (Epo-R) gene could cause the polycythemia phenotype seen in either dominant or recessive primary polycythemia described by us and others, or in polycythemia vera. We have sequenced the cytoplasmic positive and negative regulatory domains of the Epo-R genomic DNA, and a transversion of C to T in nucleotide 6148 was found in one of the patient's chromosomes. This mutation is located in the negative regulatory domain and results in a change from proline to serine (P488S). We have subsequently analyzed more than 40 chromosomes from unrelated normal subjects, as well as autosomal dominant, recessive, and sporadic primary polycythemia and polycythemia vera subjects. In no instance was the same or any other mutation in the Epo-R found. To determine if this Epo-R mutation is a cause of increased sensitivity of erythroid progenitors to erythropoietin, Ba/F3 cells (interleukin-3-dependent murine lymphoid line) were transfected with normal and mutated Epo-R cDNA, rendering the transfected cells viable and able to proliferate in Epo. Transfectants with wild-type and mutant Epo-R cDNA exhibited no difference in the presence of Epo. More recently, we were able to obtain DNA from the seven family members of the propositus and found that the nonpolycythemic mother and one of the siblings have the same Epo-R mutation. We conclude that this first described mutation of Epo-R encountered in humans does not appear on its own to explain the polycythemia phenotype; however, the possibility that it may interact with some other acquired or congenital abnormality in generating the polycythemia phenotype cannot be excluded.

Adult↗
PubMed1997

Polycythemia vera: a retrospective and reprise.

This article, by two of the late John H. Lawrence's fellows of the 1940s, traces the development of the knowledge of polycythemia vera from Vaquez, who wrote the first description of this disease, and Osler, who recognized it as "a new clinical entity," through John H. Lawrence and the use of 32P as a treatment for polycythemia vera, to the formation of French and Italian polycythemia study groups. In particular, the history of polycythemia vera after the Second World War, and its more recent history, can be traced through the development of an algorithm for evaluating an elevated hematocrit and the development of the first (O1) protocol of the Polycythemia Vera Study Group (PVSG), a randomized trial of the efficacy of 32P, chlorambucil, and phlebotomy for treating polycythemia vera. It was in 1948, only 9 years after the first use of 32P for treating polycythemia vera, that Byron Hall reported the occurrence of acute leukemia following this use of the isotope. This led to the formation of the PVSG. After completing enrollment of patients in the first protocol of the PVSG, an attempt to find a replacement for 32P as a myelosuppressive agent led to the testing of hydroxyurea as a putative non-leukemogenic drug for this purpose. However, the use of hydroxyurea for treating polycythemia vera is coming into question, as is the ability to maintain patients with phlebotomy alone. The PVSG as such no longer exists as an operational group; its files are maintained at the Mount Sinai School of Medicine in New York City. However, the French group created for the study of polycythemia vera has had a consensus conference, and the Italian group has developed a low-dose aspirin protocol for treating the disease.

Aspirin↗
PubMed1986

Neonatal polycythemia and hyperviscosity.

The combination of polycythemia and hyperviscosity in the newborn is a common problem. The incidence will vary depending on the environment and population involved because factors such a high altitude and high-risk pregnancies will markedly influence the incidence of this complication. The timing of the cord clamping at birth in a vaginally delivered infant also will make a difference with regard to the incidence of polycythemia and hyperviscosity. The pathogenesis of polycythemia and hyperviscosity is probably multifactorial and may involve events occurring during prenatal, intrapartum, and the immediate postnatal period. Polycythemia and hyperviscosity affect many organ systems. Therefore clinical manifestations are frequently nonspecific. All infants with symptomatic polycythemia and hyperviscosity should receive a partial exchange transfusion. The management of asymptomatic cases is controversial and must be individualized. The prognosis of infants with polycythemia and hyperviscosity depends heavily on the primary cause of polycythemia and hyperviscosity. Those neonates with symptoms that may or may not be related to polycythemia and hyperviscosity itself generally will have less favorable outcomes if partial exchange transfusions are not performed. The outlook of the asymptomatic polycythemia and hyperviscosity is less certain and remains to be explored.

Animals↗
PubMed1998

Impaired expression of the thrombopoietin receptor by platelets from patients with polycythemia vera.

BACKGROUND: The cause of polycythemia vera, which originates from a multipotent hematopoietic progenitor cell, is unknown. Thrombopoietin is a hematopoietic growth factor that regulates the production of multipotent hematopoietic progenitor cells and platelets. To evaluate the possibility that an abnormality in thrombopoietin-mediated signal transduction might be involved in the pathogenesis of polycythemia vera, we examined thrombopoietin-induced tyrosine phosphorylation of proteins and the expression of the thrombopoietin receptor in platelets from patients with the disease. METHODS: Platelets were isolated from the blood of patients with polycythemia vera or other chronic myeloproliferative disorders and control subjects. The platelets were exposed to either thrombopoietin or thrombin and then lysed for analysis of tyrosine phosphorylation of platelet proteins and the expression of the proteins by means of immunoblotting. Expression of the thrombopoietin receptor (Mpl) by platelets and megakaryocytes was also assessed. RESULTS: Thrombopoietin-mediated tyrosine phosphorylation of proteins was impaired in platelets from 20 patients with polycythemia vera and 3 with idiopathic myelofibrosis, but not in 4 patients with essential thrombocytosis, 3 with chronic myelogenous leukemia, 6 with secondary erythrocytosis, 2 with iron-deficiency anemia, 4 with hemochromatosis, or 5 normal subjects. Thrombin-mediated tyrosine phosphorylation of proteins was intact in platelets from patients with polycythemia vera, and the tyrosine kinases and substrates involved in the process were present in normal amounts. However, expression of the platelet thrombopoietin receptor MpI was markedly reduced or absent in 34 of 34 patients with polycythemia vera and in 13 of 14 patients with idiopathic myelofibrosis. Impaired thrombopoietin-induced tyrosine phosphorylation of proteins in patients with these two diseases was uniformly associated with markedly reduced expression of MpI or the lack of its expression. In patients with polycythemia vera, reduced expression of MpI by platelets was associated with reduced expression of MpI by megakaryocytes. CONCLUSIONS: Reduced expression of the thrombopoietin receptor MpI is characteristic of polycythemia vera and idiopathic myelofibrosis. The abnormality appears to distinguish polycythemia vera from other-forms of erythrocytosis.

Adult↗
PubMed1986

A prospective study of the value of bone marrow erythroid progenitor cultures in polycythemia.

The diagnostic value in polycythemia of the presence of endogenous erythroid colonies derived from bone marrow cells (EECs) was assessed in a prospective study on 108 patients referred for polycythemia (Hb greater than g/dL in men, greater than 16 g/dL in women) with normal plasma volume by comparison with the standard criteria, the bone marrow grade, and the serum erythropoietin (Epo) level. Total red cell volume (TRCV) was high (greater than 36 mL/kg in men, 32 mL/kg in women) in 87 cases (group A) and slightly increased in 21 cases (group B). Standard criteria were applicable in 63 of 108 cases (57%); 46 were PV and 17 were secondary polycythemia (SP). Standard criteria were nonapplicable in 45 cases. EECs were present in 65 cases (60%) with a ratio of EEC/Epo-stimulated colonies of 39.5% +/- 18% (extremes 10% to 80%). EECs were noted in 43 of 46 polycythemia vera (PV) and 0 of 17 SP. Among the 45 unclassified cases, EECs were noted in 22: 18 of 29 cases from group A (10 with 2 major and 1 minor criteria; 8 with 2 major criteria) and 4 of 16 cases from group B (with variable standard criteria, 2 belonging to a PV family). In group A, there was a positive significant correlation between EECs and the presence of two major and 1 minor criteria (P less than .0001). In group B, there was a positive significant correlation between EECs and the presence of at least 1 major criterion and 2 minor criteria or a family background (P less than .0001). The unclassified polycythemias with EECs in the bone marrow are characterized by a bone marrow grade and a mean serum Epo level not different from that of patients with PV and an active course of the disease. The unclassified polycythemias without EECs in the bone marrow are a heterogeneous group corresponding in some cases to SPs of unknown origin (slightly increased bone marrow grade and/or high serum Epo level), and in others cases to spurious polycythemias (normal bone marrow grade and/or normal Epo level). In conclusion, EECs were of great value in differentiating PV from SP (P less than .001), and in allowing the diagnosis of PV in the absence of all the standard criteria even when TRCV was slightly increased. In our study, EEC improved the classification of polycythemia by 22%. The recommended diagnostic steps for the evaluation of polycythemia must be reconsidered.

Adult↗
PubMedDate not supplied

Serum erythropoietin in the diagnosis of polycythemia vera. A follow-up study.

BACKGROUND AND OBJECTIVE: It has been suggested that the determination of serum erythropoietin (sEpo) may be useful in distinguishing between polycythemia vera (PV), relative polycythemia and secondary polycythemia (SP), but no conclusive evidence has yet been provided for this. In the present work, we evaluated the role of sEpo in the differential diagnosis of polycythemia vera and its usefulness in the follow-up of PV patients. METHODS: sEpo was assessed in 190 patients with polycythemia of different etiologies. A follow-up study was carried out in some of these patients (27 with secondary polycythemia and 17 with polycythemia vera). RESULTS: sEpo levels were higher in SP than in PV and relative polycythemia. There were, however, differences with regard to the various etiologies of SP. Polycythemia related to congenital heart disorders showed the highest levels of sEpo of the SP. When a study was conducted, sEpo alone as a diagnostic parameter displayed an efficiency of more than 90% and the most discriminating value was 5 U/L. Using lower levels (below 2 U/L) and higher levels (above 12 U/L), it was possible to distinguish between SP and PV, although an important overlap was detected between these limits (approximately 50% of cases). The follow-up study showed that in half the patients with SP the levels of sEpo were at times < 12 U/L and at other times greater than this value. At least three determinations were necessary to detect an elevated reading. In PV after venesection there was an increase in sEpo in some cases, although most of the time there was no change. INTERPRETATION AND CONCLUSIONS: Using sEpo, it was possible to differentiate between PV and SP, despite an important overlap. A follow-up study demonstrated that the increase in sEpo was intermittent in SP and that in many of these cases more than one determination could be helpful.

Adult↗
PubMed1979

Plasma erythropoietin in polycythemia.

Erythropoietin titers of plasma cannot be used to differentiate polycythemia vera from secondary polycythemia since the limit of sensitivity of our current bioassay technics is 50 mU, considerably higher than levels found in normal subjects and in patients with polycythemia. However, erythropoietin is relatively heat stable, and since abundant plasma is available from therapeutic phlebotomies it is possible to prepare and assay highly concentrated, erythropoietin-containing extracts. In 35 normal subjects, erythropoietin levels ranged from less than 5 mU/ml (the limit of sensitivity) to 18 mU/ml with a mean of 7.8 mU/ml. In 21 patients with proved polycythemia vera, the levels were less than 5 mU/ml in all. In 41 patients with suspected secondary polycythemia or polycythemia of unknown origin, the levels ranged from less than 5 to 3,000 mU/ml. Three of the 11 patients with levels less than 5mU/ml were subsequently shown to have polycythemia vera. These results suggest that this refinement of the routine bioassay for erythropoietin may be of clinical importance in the differential diagnosis of polycythemia.

Erythropoietin↗
PubMed1980

Extension of myeloid tissue into the lower extremities in polycythemia.

Biopsies of the posterior iliac crest, greater trochanter, and proximal tibia were done for 27 polycythemic patients before myelosuppressive therapy was begun. Five had relative polycythemia, thirteen had secondary polycythemia, and nine had polycythemia vera. None of five biopsy specimens of the greater trochanter in cases of relative polycythemia contained myeloid tissue (erythroblasts, granulocytic precursors, and megakaryocytes). Four of six biopsy specimens of the greater trochanter and one of eight of the tibia in cases of secondary polycythemia contained myeloid tissue. All seven biopsy specimens of the greater trochanter and two of five biopsy specimens of the proximal tibia in cases of polycythemia vera contained myeloid tissue. A trochanter biopsy specimen devoid of myeloid tissue probably eliminates the diagnosis of polycythemia vera. Myeloid tissue extends from the axial skeleton to the greater trochanter, therafter to the tibia. Extension of myeloid tissue does not imply that marrow failure is imminent in polycythemia vera.

Adult↗
PubMed2001

Molecular biology of polycythemias.

Polycythemia is literally translated as "many cells in the blood". Only erythrocytosis (an alternative term for these disorders) produces polycythemia since leukocytes and platelets are present in blood in far smaller proportions. Polycythemia may be due to increased proliferation or decreased apoptosis of erythroid progenitors, or to delayed erythroid differentiation with an increased number of progenitor cell divisions. Prolonged red cell survival, another theoretical cause of polycythemia, has not yet been described and with intact regulatory mechanisms is unlikely to occur. Primary polycythemias result from abnormalities expressed in hematopoietic progenitors. In contrast, circulating factors cause secondary polycythemia (1). There are acquired and congenital causes of both primary and secondary polycythemia (1).

Angiotensin II↗
PubMed2005

Analysis of red cell mass and plasma volume in patients with polycythemia.

CONTEXT: Polycythemia describes an increased proportion of red blood cells in the peripheral blood. In absolute polycythemia, there is increased red cell mass (RCM) with normal plasma volume, in contrast with apparent polycythemia, in which there is increased or normal RCM and decreased plasma volume. In order to deliver the appropriate treatment it is necessary to differentiate between the two. OBJECTIVE: A retrospective analysis of RCM and plasma volume data are presented, with special attention to different methods of RCM interpretation. DESIGN: The measurements of RCM and plasma volume in 64 patients were compared with the venous and whole-body packed cell volume, and the incidence of absolute and apparent polycythemia was determined for increasing hematocrit levels. Measurements of RCM and plasma volume were performed using chromium 51-labeled red cells and iodine 125-labeled albumin, respectively. The measured RCM of each patient was expressed as a percentage of the mean expected RCM and was also defined as being within or outside the range of 2 SD of the mean. The results were also expressed in the traditional manner of mL/kg body weight. RESULTS: Twenty-one patients (13 women and 8 men) had absolute polycythemia. None of them had an increased plasma volume beyond 2 SD of the mean. When expressed according to the criteria of mL/kg body weight, 17 of the 21 patients had abnormally increased RCM, but 4 patients (19%) had a normal RCM value. Twenty-eight patients had apparent polycythemia. The remaining 15 patients had normal RCM and plasma volume. CONCLUSIONS: The measurement of RCM and plasma volume is a simple and necessary procedure in the evaluation of polycythemia. In obese patients, the expression of RCM in mL/kg body weight lacks precision, considering that adipose tissue is hypovascular. The results of RCM are best described as being within or beyond 2 SD of the mean value.

Adult↗
PubMed2003

The rate of progression to polycythemia vera or essential thrombocythemia in patients with erythrocytosis or thrombocytosis.

BACKGROUND: The clinical relevance of mild erythrocytosis (hematocrit > 0.48 in women or > 0.51 in men) or thrombocytosis (platelet count > 400 x 10(9) cells/L) in asymptomatic persons is uncertain. OBJECTIVE: To estimate the frequency of polycythemia vera or essential thrombocythemia in persons with erythrocytosis or thrombocytosis in a general population. DESIGN: Cohort study. SETTING: Vicenza, Italy. PARTICIPANTS: 10 000 community dwellers age 18 to 65 years and enrolled in the Vicenza Thrombophilia and Atherosclerosis project. MEASUREMENTS: Platelet count and hematocrit at baseline in all participants and at second follow-up if baseline results were abnormal. Measurement of erythrocyte sedimentation rate, peripheral arterial saturation, serum erythropoietin level, and leukocyte alkaline phosphatase level; chest radiography; abdominal ultrasonography; and occult fecal blood testing were done in persons with confirmed high hematocrit or platelet counts. Polycythemia vera and essential thrombocythemia were diagnosed according to the Polycythemia Study Group criteria. RESULTS: At baseline examination, 1 person had polycythemia vera, 1 had essential thrombocythemia, 88 had erythrocytosis, and 99 had thrombocytosis. Second examination confirmed erythrocytosis in 40% (95% CI, 29% to 51%) and thrombocytosis in 8% (CI, 4% to 15%) of those with abnormal baseline results. Among persons with confirmed abnormalities, further evaluation revealed 11 with idiopathic erythrocytosis, 2 with polycythemia vera (3/10 000 [CI, 0.6 to 8.7/10 000]), and 3 with essential thrombocythemia (4/10 000 [CI, 1.09 to 10.2/10 000]). After 5 years of follow-up, 1 additional person with a high platelet count developed essential thrombocythemia, and no persons developed hemorrhagic or thrombotic complications. CONCLUSIONS: The prevalences of polycythemia vera and essential thrombocythemia were higher than expected in this general population. However, the risks for developing polycythemia vera, essential thrombocythemia, or associated vascular complications in persons with erythrocytosis or thrombocytosis were low.

Adolescent↗
PubMed1964

POLYCYTHEMIA VERA: PERIPHERAL VASCULAR MANIFESTATIONS.

The presenting manifestations of polycythemia vera are often complications involving the vascular system. These include myocardial infarction, cerebro-vascular accidents and ischemic changes in the extremities.The concept of increased atherogenesis in cases of polycythemia vera has been questioned. A possible mechanism by which small, otherwise subclinical atheromatous plaques produce ischemic symptoms in patients with polycythemia vera is discussed. The blood in polycythemic patients has been shown to have an increased viscosity resulting in a prolonged circulation time. If a small atheromatous plaque is present in association with increased blood viscosity, this combination may well produce ischemic symptoms. This explains why treatment of polycythemia vera, with restoration of blood to normal viscosity, often reverses the patient's ischemic symptoms. Two cases of polycythemia vera here reported, in which the presenting manifestations were gangrenous extremities, emphasize the need for prompt diagnosis and treatment of polycythemia vera. In the first case, early recognition and treatment of polycythemia vera successfully reversed the ischemic changes in the extremities, while failure of early recognition and treatment in the second case resulted in two major amputations.

Angiography↗
PubMed1981

[The polycythemias].

The primary polycythemias result from malignant proliferation of myeloid stem-cell. Typically, an increase of red cell mass and a decrease of erythropoietin is found. In polycythemia vera, augmentation of PCV is frequently associated with elevation of WBC and platelets, as well as splenomegaly. The treatment consists of venosection and administration of P32 or cytostatics; all of which methods exhibit a specific risk. In secondary polycythemias, augmentation of red cell mass is consecutive to increased erythropoietin production; these hypererythropoietinemias may be induced by hypoxia or, rarely, may result from an inappropriate tumoral (malignant or benign) secretion. "Spurious" polycythemias are finally defined by the more or less normal red cell mass. They are divided into three groups: micropolycythemias, relative polycythemias and "spurious" chronic polycythemias. The latter are frequent and exhibit relatively important morbidity and mortality, and therefore the recently proposed new therapeutic approaches should be considered. Tobacco addiction appears to be one of the major causes of these "spurious" polycythemias.

Diagnosis, Differential↗
PubMedDate not supplied

Polycythemia and the Budd-Chiari syndrome: study of serum erythropoietin and bone marrow erythroid progenitors.

The mechanism of polycythemia associated with the Budd-Chiari syndrome is unknown. Erythropoiesis in 10 patients with Budd-Chiari syndrome was studied in an attempt to distinguish prior unrecognized polycythemia vera from secondary polycythemia. Serum erythropoietin was assayed using a mouse fetal liver erythroblast assay. High concentrations of serum erythropoietin were observed in 6 of 7 patients with acute primary Budd-Chiari syndrome. Levels were normal in four patients who were investigated during the chronic phase and were increased in one with persisting polycythemia. In one patient, erythropoietin concentration in the hepatic vein was twice the level measured in peripheral, caval and renal venous blood. Bone marrow erythroid progenitors developed in vitro in the absence of exogenous erythropoietin in all polycythemia vera cases studied in acute and chronic phases, whether polycythemia persisted or not. These findings indicate that hepatic erythropoietin production occurs in the acute phase of Budd-Chiari syndrome and suggest that, in some cases of Budd Chiari syndrome, polycythemia which resolves after the acute phase may be secondary to liver disease.

Adult↗
PubMed2003

Aspirin-responsive painful red, blue, black toe, or finger syndrome in polycythemia vera associated with thrombocythemia.

Five patients with red, purple blue, or black toes or fingers due to thrombocythemia associated with polycythemia vera (polycythemia and thrombocythemia vera) in four and essential thrombocythemia (thrombocythemia vera) in one are described. The microvascular erythromelalgic syndrome of thrombocythemia was overlooked and progressed to cold blue swollen and painful fingers or black toes in three patients with polycythemia and thrombocythemia vera due to arteriographically documented occlusions of digital or large peripheral arteries with no evidence of preexistent atherosclerotic vascular disease. Concomitant erythromelalgia of the hand palm could be confirmed by the histopathological findings of arteriolar thrombotic lesions in the reticular dermis in two patients with polycythemia and thrombocythemia vera. The increased hematocrit in the presented patients with polycythemia and thrombocythemia vera contributed to the progression of the microvascular syndrome of thrombocythemia to major occlusive ischemic events of the extremities. Standard therapy with oral anticoagulants and reduction of the hematocrit to normal by bloodletting did not affect the platelet-mediated microvascular erythromelalgic, ischemic symptoms in the patients with polycythemia vera because thrombocythemia vera persisted. Complete relief of pain and restoration of the ischemic acral circulation disturbances in patients with thrombocythemia vera or thrombocythemia associated with polycythemia vera in maintained remission by bloodletting could be obtained by long-term treatment with low-dose aspirin.

Aged↗