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PubMed1998

[Erythermalgias].

Erythermalgia is an unfrequent disorder characterised by recurrent, red, warm and painful extremities. Classification of erythermalgia is clinical: primary erythermalgia usually starting during childhood; erythromelalgia secondary to myeloproliferative disorders (especially thrombocytosis or polycythaemia vera); erythermalgia seconndary to drugs or vasculitis. Intravascular platelet activation and aggregation with plugging of the arterioles has been suggested as the mechanism of secondary erythromelalgia; aspirin is an effective treatment. Conversely, as yet unelucidated pathophysiologic events underlie primary erythermalgia, which usually fails to respond to aspirin.

Diagnosis, Differential↗
PubMed1992

Polycythemia vera.

Polycythemia vera (PV) is one of the myeloproliferative diseases, and, as such, is an example of clonal hematopoiesis. The progeny of a single, abnormal, hematopoietic stem cell gain a growth advantage over their normal counterparts resulting in overproduction of red cells generally accompanied by overproduction of granulocytes and platelets as well. There are a variety of nonspecific symptoms at onset related to the increased red cell mass and hematocrit accompanied by the more specific manifestations of pruritus, erythromelalgia, and hepatic, portal, and mesenteric vein thrombosis. Splenomegaly and hypertension are common. The laboratory hallmark is an increased red cell mass. There is also often an increase in white cell count, platelet count, and leukocyte alkaline phosphatase along with other findings reflecting the increased rate of turnover of hematopoietic cells. The bone marrow biopsy generally displays hypercellularity involving all three cell lines and absent iron stores. The diagnosis of PV depends on excluding spurious polycythemia in which there is a high hematocrit but a normal red cell mass and secondary polycythemia in which there is an increased red cell mass in response to tissue hypoxia or the inappropriate production of erythropoietin, generally by a tumor. In addition, one should try to establish the diagnosis in a positive fashion by a combination of studies of the blood and bone marrow. Phlebotomy and occasionally plateletpheresis should be used as acute therapy. Chronic therapy is guided by the knowledge that patients treated with phlebotomy alone have an increased rate of thrombotic complications particularly in older patients and those with previous thrombotic disease. Myelosuppressive therapy can reduce the incidence of these complications, but is commonly associated with an increased incidence of second malignancies, particularly acute leukemia. At present, hydroxyurea is the myelosuppressive agent of choice. Antiplatelet agents have a limited role except in the palliation of the syndrome of erythromelalgia. Median survival is approximately 10 years. As implied above, the causes of morbidity and mortality vary with the mode of chronic therapy which has been employed, leukemia being more common after myelosuppressive therapy and thrombotic complications being more common after therapy with phlebotomy alone. Ten percent to 50% of patients move into a spent phase followed by postpolycythemic myeloid metaplasia, irrespective of previous therapy employed. Eventually, the major problems may be cytopenias and massive splenomegaly.

Humans↗
PubMed2005

Evolving global epidemiology, syndromic classification, general management, and prevention of unknown mushroom poisonings.

OBJECTIVE: To assess the evolving global epidemiology of mushroom poisoning and to identify new and emerging mushroom poisonings and their treatments, a descriptive analysis and review of the world's salient scientific literature on mushroom poisoning was conducted. DATA SOURCE: Data sources from observation studies conducted over the period 1959-2002 and describing 28,018 mushroom poisonings since 1951 were collected from case reports, case series, regional descriptive studies, meta-analyses, and laboratory studies of mushroom poisonings and the toxicokinetics of mycotoxins. STUDY SELECTION: Studies included in the review were selected by a MEDLINE search, 1966-2004, an Ovid OLDMEDLINE search, 1951-1965, and a medical library search for sources published before 1951. DATA EXTRACTION: To better guide clinicians in establishing diagnoses and implementing therapies, despite confusing ingestion histories, data were extracted to permit an expanded syndromic classification of mushroom poisoning based on presentation timing and target organ systemic toxicity. DATA SYNTHESIS: The final 14 major syndromes of mushroom poisoning were stratified first by presentation timing and then by target organ systemic toxicity and included early (<6 hrs), late (6-24 hrs), and delayed syndromes (> or =1 day). There were eight early syndromes (four neurotoxic, two gastrointestinal, two allergic); three late syndromes (hepatotoxic, accelerated nephrotoxic, erythromelalgia); and three delayed syndromes (delayed nephrotoxic, delayed neurotoxic, rhabdomyolysis). Four new mushroom poisoning syndromes were classified including accelerated nephrotoxicity (Amanita proxima, Amanita smithiana), rhabdomyolysis (Tricholoma equestre, Russula subnigricans), erythromelalgia (Clitocybe amoenolens, Clitocybe acromelalgia), and delayed neurotoxicity (Hapalopilus rutilans). In addition, data sources were stratified by three chronological time periods with >1,000 confirmed mushroom ingestions reported and tested for any statistically significant secular trends in case fatalities from mushroom ingestions over the entire study period, 1951-2002. CONCLUSIONS: Since the 1950s, reports of severe and fatal mushroom poisonings have increased worldwide. Clinicians must consider mushroom poisoning in the evaluation of all patients who may be intoxicated by natural substances. Since information on natural exposures is often insufficient and incorrect, a new syndromic classification of mushroom poisoning is recommended to guide clinicians in making earlier diagnoses, especially in cases where only advanced critical care, including organ transplantation, may be life saving.

Diagnosis, Differential↗
PubMed2005

Syndromic diagnosis and management of confirmed mushroom poisonings.

OBJECTIVE: To assess the evolving global epidemiology of mushroom poisoning and to identify new and emerging mushroom poisonings and their treatments, a descriptive analysis and review of the world's salient scientific literature on mushroom poisoning was conducted. DATA SOURCE: Data sources from observation studies conducted over the period 1959-2002, and describing 28,018 mushroom poisonings since 1951, were collected from case reports, case series, regional descriptive studies, meta-analyses, and laboratory studies of mushroom poisonings and the toxicokinetics of mycotoxins. STUDY SELECTION: Studies included in the review were selected by a MEDLINE search, 1966-2004, an Ovid OLDMEDLINE search, 1951-1965, and a medical library search for sources published before 1951. DATA EXTRACTION: To better guide clinicians in establishing diagnoses and implementing therapies, despite confusing ingestion histories, data were extracted to permit an expanded syndromic classification of mushroom poisoning based on presentation timing and target organ systemic toxicity. DATA SYNTHESIS: The final 14 major syndromes of mushroom poisoning were stratified first by presentation timing and then by target organ systemic toxicity and included early (<6 hrs), late (6-24 hrs), and delayed syndromes (> or =1 day). There were eight early syndromes (four neurotoxic, two gastrointestinal, two allergic); three late syndromes (hepatotoxic, accelerated nephrotoxic, erythromelalgia); and three delayed syndromes (delayed nephrotoxic, delayed neurotoxic, rhabdomyolysis). Four new mushroom poisoning syndromes were classified including accelerated nephrotoxicity (Amanita proxima, Amanita smithiana), rhabdomyolysis (Tricholoma equestre, Russula subnigricans), erythromelalgia (Clitocybe amoenolens, Clitocybe acromelalgia), and delayed neurotoxicity (Hapalopilus rutilans). In addition, data sources were stratified by three chronological time periods with >1,000 confirmed mushroom ingestions reported and tested for any statistically significant secular trends in case fatalities from mushroom ingestions over the entire study period, 1951-2002. CONCLUSIONS: Since the 1950s, reports of severe and fatal mushroom poisonings have increased worldwide. Clinicians must consider mushroom poisoning in the evaluation of all patients who may be intoxicated by natural substances. Since information on natural exposures is often insufficient and incorrect, a new syndromic classification of mushroom poisoning is recommended to guide clinicians in making earlier diagnoses, especially in cases where only advanced critical care, including organ transplantation, may be life saving.

Agaricales↗
PubMed2004

Markers of endothelial and in vivo platelet activation in patients with essential thrombocythemia and polycythemia vera.

We investigated endothelial and in vivo platelet activation in a cohort of 52 patients with essential thrombocythemia (ET) and polycythemia vera (PV) before and after cytoreductive treatment, 22 healthy controls, and 17 patients with acute cerebrovascular ischemia (ACVI) and normal platelet counts. We measured platelet expression of CD62P and CD63 antigens and levels of soluble vascular cell adhesion molecule 1 (sVCAM-1). We found increased in vivo platelet activation in all patients with ET and PV, both before and after cytoreductive treatment, compared with controls. In patients with arterial thrombosis, platelet expression of CD62P, and in patients with erythromelalgia, expression of both markers was higher compared with expression in patients without thrombotic complications. In patients with ET and PV before and after treatment, sVCAM-1 expression was increased compared with expression in controls but also compared with expression in patients with ACVI and normal platelet counts. In patients with arterial thrombosis and erythromelalgia, in vivo platelet activation correlated with the level of sVCAM-1. Our findings indicated that in vivo platelet activation reflects intrinsic platelet defects in patients with ET and PV, persists after cytoreductive treatment, and results in endothelial damage, probably through release of angiogenic factors and/or activation of white blood cells.

Adult↗
PubMed1999

[Vasoneuroses].

The term vasoneuroses comprises functional disorders of peripheral vessels, in particular arterioles, manifested by vasospasms on the periphery of the upper and lower extremities, more rarely the nose and ears. The main representant of these diseases is a disorder manifested by episodic attacks of ischaemia of the fingers, in particular of the upper extremities--Raynaud's phenomenon (RP) which has two forms: primary RP (Raynaud's disease) where no other basic disease is diagnoses during a two-year period. secondary RP (Raynaud's phenomenon) as an associated symptom of other, in particular systemic diseases. The etiology and pathology of Raynaud's phenomenon has not been elucidated satisfactorily so far. With regard to the variety and scope of detected functional and morphological abnormalities RP is rather multifactorial, caused by an unbalanced action of local and systemic factors affecting the sensitivity of the vascular wall to spastic stimuli. Treatment therefore remains symptomatic. It is restricted to administration of vasodilatating agents, in more severe cases sympathectomy is considered; it is important to rule out another basic disease. Vasoneuroses include also acrocyanosis, livedo reticularis and erythromelalgia. In the case of erythromelalgia it is important to rule out secondary causes (hypertension and polycythemia vera), otherwise it is not necessary to use pharmacological means to influence these diseases because of their relatively harmless course.

Humans↗
PubMed1997

Mechanisms of bleeding and thrombosis in myeloproliferative disorders.

Arterial and venous thromboses and microcirculatory disturbances such as erythromelalgia and neurologic and visual symptoms are the thrombotic manifestations occurring in Polycythaemia Vera and Essential Thrombocythaemia. The increased in vivo thromboxane A2 generation existing in these patients and the selective sensitivity of erythromelalgia to aspirin suggest that platelet PGG/H synthase products may be involved in transducing the increased thrombotic risk. The relationship between Thromboxane A2 production and thrombotic accidents will be investigated by the European Collaboration on Low-Dose Aspirin in Polycythaemia Vera (ECLAP) which will test the efficacy of low-dose aspirin by a randomised clinical trial. The haemorrhagic diathesis of polycythaemic and thrombocythaemic subjects is generally mild and spontaneous bleeding usually manifests in patients with very high platelet count. Its mechanism may be related to quantitative as well as to qualitative platelet changes. Possible mechanisms linking the high grade thrombocytosis to bleeding are consumption of von Willebrand factor and clot fragility due to a mechanical effect of the high platelet count or to inhibition of fibrin polymerization by platelet Glycoprotein Ib.

Blood Platelets↗
PubMed2006

Sporadic onset of erythermalgia: a gain-of-function mutation in Nav1.7.

OBJECTIVE: Inherited erythermalgia (erythromelalgia) is an autosomal dominant disorder in which patients experience severe burning pain in the extremities, in response to mild thermal stimuli and exercise. Although mutations in sodium channel Na(v)1.7 have been shown to underlie erythermalgia in several multigeneration families with the disease that have been investigated to date, the molecular basis of erythermalgia in sporadic cases is enigmatic. We investigated the role of Na(v)1.7 in a sporadic case of erythermalgia in a Chinese family. METHODS: Genomic DNA from patients and their asymptomatic family members were sequenced to identify mutations in Na(v)1.7. Whole-cell patch clamp analysis was used to characterize biophysical properties of wild-type and mutant Na(v)1.7 channels in mammalian cells. RESULTS: A single amino acid substitution in the DIIS4-S5 linker of Na(v)1.7 was present in two children whose parents were asymptomatic. The asymptomatic father was genetically mosaic for the mutation. This mutation produces a hyperpolarizing shift in channel activation and an increase in amplitude of the response to slow, small depolarizations. INTERPRETATION: Founder mutations in Na(v)1.7, which can confer hyperexcitability on peripheral sensory neurons, can underlie sporadic erythermalgia.

Adolescent↗
PubMed1996

Painful, swollen, and erythematous hands and feet.

The patient described herein had 3 features known to be associated with secondary erythermalgia: 1) onset during pregnancy, 2) hypertension, and 3) verapamil treatment (6). Unusual was the fact that while the patient's condition did not respond to aspirin consistently or completely, the skin biopsy did show arteriolar fibromuscular intimal proliferation, which is usually seen with erythromelalgia. Also unusual was the recurrence of symptoms with a second pregnancy 2 years after the presentation reported herein. The syndrome resolved completely within 1 year of delivery. The platelet count was monitored for 4 year after the initial resolution of symptoms (which included the second pregnancy and its associated recurrence of symptoms) and was never higher than 350 x 10(9)/liter. The literature is confusing in mixing of terminology concerning these 3 clinically similar syndromes. The classifications as outlined herein are the emerging standards. A working knowledge of the definitions of these 3 syndromes is critical for appropriate diagnosis and treatment.

Adult↗
PubMed2006

[Vascular emergencies in dermatology].

Life-threatening vascular complications of the skin are rare and usually reflect underlying systemic diseases. Lesions are sudden in onset, become necrotic and may be severe or life-threatening. Effective management requires an understanding of the underlying medical condition, such as arterial thrombosis, temporal arteritis, calciphylaxis and purpura fulminans. In contrast, the acute painful symptoms of erythromelalgia often lead to an urgent dermatologic consultation but pose no acute risk.

Acute Disease↗
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↗
PubMed1991

Cutaneous manifestations in patients with essential thrombocythemia.

In a retrospective study of 268 patients with essential thrombocythemia, related cutaneous manifestations were found in 58 (22%). In 27 cases (10%) the related skin lesions were present at the time of the primary diagnosis of essential thrombocythemia. Hematomas, ecchymoses, petechiae, or purpura occurred in 24 (41%) of the 58 patients. Fifteen patients (26%) had erythromelalgia, in 11 of whom it was the initial complaint. Livedo reticularis, recurrent superficial thrombophlebitis, ischemic complications with gangrene, leg ulcers, or ulcers on the toes were other manifestations. Urticaria occurred in two patients, and Raynaud's phenomenon and necrotizing vasculitis were each observed in one patient. Platelet function may be abnormal, and this was found in 13 of 19 patients studied, 9 of whom had spontaneous platelet aggregation. Knowledge of the cutaneous manifestations in essential thrombocythemia may lead to its earlier detection. Prompt diagnosis of essential thrombocythemia is important because treatment may prevent severe hemorrhagic or thrombotic events.

Adult↗
PubMed2006

Platelet-mediated thrombotic complications in patients with ET: Reversal by aspirin, platelet reduction, and not by coumadin.

The broad spectrum of aspirin-sensitive erythromelalgia, its microvascular ischemic complications, migraine-like atypical or typical transient ischemic attacks (cerebral and ocular) as well as acute coronary syndromes in thrombocythemia vera (essential thrombocythemia and thrombocythemia associated with polycythemia vera in maintained remission by phlebotomy) is caused by platelet cyclo-oxygenase-mediated arteriolar inflammation, fibromuscular intimal proliferation without and with occlusive thrombosis by platelet-rich thrombi in the end-arterial microvasculature of the peripheral, cerebral, ocular and coronary circulation. These microvascular ischemic and thrombotic complications does not respond to Coumadin, but are immediately relieved by a loading dose of 500 mg aspirin, and does not recur when the patient is maintained on low dose aspirin (50 mg per day) or after reduction of platelet counts to normal (<400.000/microl).

Aspirin↗
PubMed2005

Erythermalgia: molecular basis for an inherited pain syndrome.

Inherited erythermalgia (also termed erythromelalgia) is characterized by severe pain in the limbs in response to mild thermal stimuli or exercise. Its molecular basis has, until recently, been enigmatic. Studies of families with autosomal dominant erythermalgia have now demonstrated mutations in sodium channel Na(v)1.7, which is selectively expressed within nociceptive dorsal root ganglion and sympathetic ganglion neurons. Shifts in activation and deactivation, and enhanced responses to small stimuli in mutant channels, decrease the threshold for single impulses and high-frequency trains of impulses in pain-sensing neurons. Erythermalgia, the first inherited painful neuropathy to be understood at a molecular level, is a model disease that could hold lessons for other painful conditions and for the development of rational, mechanism-based treatments for pain.

Amino Acid Sequence↗
PubMed1989

Idiopathic erythermalgia: a congenital disorder.

Idiopathic erythermalgia during early childhood and adolescence is characterized by red, congested, burning pain of the lower extremities provoked by exercise or exposure to warmth. The clinical symptoms of idiopathic erythermalgia in a young woman and her mother are described. Histopathologic and immunofluorescence findings in biopsy specimens of affected areas of skin were consistent with a nonspecific inflammatory process. The condition was completely refractory to any treatment. Even the long-lasting relief of pain with one low dose of aspirin, which is a prerequisite for the diagnosis of thrombocytemic erythromelalgia, was lacking. Idiopathic erythermalgia appears to be a separate clinical entity and congenital disorder.

Adolescent↗
PubMed1999

Thromboxane-dependent platelet activation in vivo precedes arterial thrombosis in thrombocythaemia: a rationale for the use of low-dose aspirin as an antithrombotic agent.

The clinical course of patients with polycythaemia vera (PV) and essential thrombocythaemia (ET) is frequently complicated by arterial thrombotic events. The pathogenesis is not clearly understood but attributed to abnormalities in platelet function. An increase in platelet thromboxane formation has been described in the majority of asymptomatic patients with thrombocythaemia, probably reflecting spontaneous platelet activation in vivo. In the present study we prospectively investigated whether an increase in platelet thromboxane formation actually precedes arterial microvascular thrombosis. In addition, we studied the effect of selective inhibition of platelet thromboxane formation on clinical outcome by reinstitution of low-dose aspirin (50 mg/ d). Six ET patients and one PV patient participated in this study. Within 10 d after withdrawal of aspirin, three patients developed arterial microvascular thrombosis of extremities (erythromelalgia), which was preceded by a 3-30-fold increase in urinary thromboxane excretion as compared with patients who remained asymptomatic. The increased urinary thromboxane excretion and clinical signs could be inhibited by a platelet-specific aspirin regimen of 50 mg/d without affecting vascular cyclooxygenase, indicating that platelets were the main source of the increased thromboxane generation. These data suggest that in symptomatic patients an enhanced formation of thromboxane by platelets, reflecting platelet activation in vivo, precedes the development of arterial microvascular thrombosis. These data provide a rationale for using low-dose aspirin as an antithrombotic agent in thrombocythaemia.

Adult↗
PubMedDate not supplied

Resolution of refractory symptoms of secondary erythermalgia with intermittent epidural bupivacaine.

BACKGROUND AND OBJECTIVES: Erythermalgia is a rare disorder characterized by erythema, edema, elevated skin temperature, and burning pain of the hands and/or feet. The etiology of primary erythermalgia is idiopathic while secondary erythermalgia is associated with autoimmune and rheumatologic factors. Symptoms are typically refractory to medical management. We report the use of epidural bupivacaine as a treatment option for secondary erythermalgia. CASE REPORT: A 28-year-old woman presented with secondary erythromelalgia that was characterized by severe pain, swelling, and erythema. Medical management failed and a lumbar epidural dosed with bupivacaine was used. This resulted in complete resolution of the patient's symptoms. CONCLUSION: Intermittent epidural bupivacaine may provide treatment of the refractory symptoms of secondary erythermalgia.

Adult↗
PubMed1997

Neurologic and visual symptoms in essential thrombocythemia: efficacy of low-dose aspirin.

Neurologic and visual symptoms frequently occurred in 56 reported patients with essential thrombocythemia (ET). They may either precede or follow the well-known microcirculatory complications of ET of acroparesthesias, erythromelalgia, and acrocyanosis or ischemia of one or more toes. In comparison with transient ischemic attacks in patients with vascular risk factors, the usual neurologic presentation of ET consists of brief attacks of sudden cerebral or visual dysfunction, which can be either well localized or diffuse and entirely nonspecific. A dull and throbby headache usually lasting for several hours frequently accompanies the neurologic symptoms. Visual symptoms are less frequent and include transient monocular blindness and global symptoms such as scintillating scotomas and attacks of blurred vision. Neurologic and visual symptoms may leave minor sequelae but are generally nondisabling. The striking similarity to migraine, together with the absence of vascular risk factors and the striking efficacy of aspirin treatment supports the hypothesis that the ischemic neurologic and visual symptoms in ET are caused by shear rate-induced intravascular activation and aggregation of platelets with subsequent transient sludging or occlusion of the cerebral arterial microvasculature. Available data show that both the erythromelalgic distress and the ischemic neurologic attacks in ET are completely abolished by control of platelet function with low dose aspirin alone or reduction of platelet counts to normal as well as by the combination of platelet reducing therapy and low-dose aspirin. Early recognition and appropriate treatment of neurologic symptoms in patients with ET is therefore of great clinical relevance.

Anticoagulants↗