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1.
Eur J Intern Med ; 121: 17-24, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38087668

ABSTRACT

Hypertension urgency and emergency represents a challenging condition in which clinicians should determine the assessment and/or treatment of these patients. Whether the elevation of blood pressure (BP) levels is temporary, in need of treatment, or reflects a chronic hypertensive state is not always easy to unravel. Unfortunately, current guidelines provide few recommendations concerning the diagnostic approach and treatment of emergency department patients presenting with severe hypertension. Target organ damage determines: the timeframe in which BP should be lowered, target BP levels as well as the drug of choice to use. It's important to distinguish hypertensive emergency from hypertensive urgency, usually a benign condition that requires more likely an outpatient visit and treatment.


Subject(s)
Hypertension , Hypertensive Crisis , Humans , Hypertension/diagnosis , Hypertension/drug therapy , Blood Pressure , Emergency Service, Hospital , Antihypertensive Agents/therapeutic use
2.
Rev. clín. esp. (Ed. impr.) ; 222(4): 229-232, abr. 2022. graf, tab
Article in Spanish | IBECS | ID: ibc-204728

ABSTRACT

Los pacientes con diabetes mellitus tipo 2 (DMT2) presentan un mayor riesgo de experimentar una enfermedad grave por coronavirus 2019 (COVID-19) con un incremento de la mortalidad relacionada. Los agonistas del receptor del péptido similar al glucagón tipo 1 (AR-GLP-1) ejercen efectos cardiovasculares y renales beneficiosos en los pacientes con DMT2 de alto riesgo cardiovascular. Sus propiedades antiinflamatorias podrían resultar beneficiosas en estos pacientes. El presente estudio es un metaanálisis sobre el riesgo de infección respiratoria y distrés respiratorio del adulto causado por AR-GLP-1 utilizando como fuente los ensayos clínicos de seguridad cardiovascular publicados en la bibliografía. Hay que destacar que los AR-GLP-1 no parecen aumentar el riesgo de infección respiratoria, neumonía ni síndrome de distrés respiratorio del adulto en los pacientes con DMT2 y alto riesgo cardiovascular (AU)


Patients with type 2 diabetes mellitus (T2DM) are at increased risk for severe coronavirus disease 2019 (COVID-19) and related mortality. Glucagon-like peptide-1 receptor agonists (GLP-1-RAs) have significant cardiovascular and renal benefits for patients with T2DM and related comorbidities. Their anti-inflammatory properties could be beneficial in these patients. This work provides less-biased estimates regarding the risk for respiratory tract infections and acute respiratory distress syndrome by performing the first significant meta-analysis of cardiovascular outcome trials in the literature. Notably, GLP-1-RAs do not seem to increase the risk for respiratory tract infection, pneumonia, or acute respiratory distress syndrome in patients with T2DM and cardiovascular comorbidities (AU)


Subject(s)
Humans , Cardiovascular Diseases/drug therapy , Diabetes Mellitus, Type 2/drug therapy , Glucagon-Like Peptide-1 Receptor/therapeutic use , Hypoglycemic Agents/therapeutic use , Respiratory Distress Syndrome
3.
Rev Clin Esp ; 222(4): 229-232, 2022 Apr.
Article in Spanish | MEDLINE | ID: mdl-33935292

ABSTRACT

Patients with type 2 diabetes mellitus (T2DM) are at increased risk for severe coronavirus disease 2019 (COVID-19) and related mortality. Glucagon-like peptide-1 receptor agonists (GLP-1-RAs) have significant cardiovascular and renal benefits for patients with T2DM and related comorbidities. Their anti-inflammatory properties could be beneficial in these patients. This work provides less-biased estimates regarding the risk for respiratory tract infections and acute respiratory distress syndrome by performing the first significant meta-analysis of cardiovascular outcome trials in the literature. Notably, GLP-1-RAs do not seem to increase the risk for respiratory tract infection, pneumonia, or acute respiratory distress syndrome in patients with T2DM and cardiovascular comorbidities.

4.
Rev Clin Esp (Barc) ; 222(4): 229-232, 2022 04.
Article in English | MEDLINE | ID: mdl-34167924

ABSTRACT

Patients with type 2 diabetes mellitus (T2DM) are at increased risk for severe coronavirus disease 2019 (COVID-19) and related mortality. Glucagon-like peptide-1 receptor agonists (GLP-1-RAs) have significant cardiovascular and renal benefits for patients with T2DM and related comorbidities. Their anti-inflammatory properties could be beneficial in these patients. This work provides less-biased estimates regarding the risk for respiratory tract infections and acute respiratory distress syndrome by performing the first significant meta-analysis of cardiovascular outcome trials in the literature. Notably, GLP-1-RAs do not seem to increase the risk for respiratory tract infection, pneumonia, or acute respiratory distress syndrome in patients with T2DM and cardiovascular comorbidities.


Subject(s)
COVID-19 , Cardiovascular Diseases , Diabetes Mellitus, Type 2 , Respiratory Distress Syndrome , Cardiovascular Diseases/epidemiology , Cardiovascular Diseases/etiology , Diabetes Mellitus, Type 2/chemically induced , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/drug therapy , Glucagon-Like Peptide 1 , Glucagon-Like Peptide-1 Receptor/agonists , Humans , Hypoglycemic Agents/adverse effects , Pandemics , Respiratory Distress Syndrome/drug therapy
5.
Diabetes Metab ; 46(4): 272-279, 2020 09.
Article in English | MEDLINE | ID: mdl-32437914

ABSTRACT

OBJECTIVE: As sodium-glucose cotransporter-2 inhibitors (SGLT-2is) and glucagon-like peptide-1 receptor agonists (GLP-1RAs) are second-line treatment options in type 2 diabetes mellitus (T2DM), our study sought to provide precise effect estimates regarding the role of GLP-1RAs vs SGLT-2is as add-on treatments in patients uncontrolled by metformin monotherapy. RESEARCH DESIGN AND METHODS: PubMed, the Cochrane Central Register of Controlled Trials (CENTRAL) and 'grey literature' were searched from their inception up to December 2019 for randomized controlled trials (RCTs) with durations≥12weeks to evaluate the safety and efficacy of adding a GLP-1RA vs an SGLT-2i in patients with T2DM. RESULTS: Three eligible RCTs were identified. Administration of GLP-1RAs vs SGLT-2is resulted in significant decreases in HbA1c with no significant impact on either body weight or fasting plasma glucose. GLP-1RA treatment led to a significant increase in odds for achieving an HbA1c<7% compared with SGLT-2is, whereas no difference was detected in body weight reductions of>5%. Significantly greater risk for any hypoglycaemia, nausea and diarrhoea, and lower risk for genital infections, was also observed with GLP-1RAs, while no differences regarding severe hypoglycaemia, treatment discontinuation and impact on blood pressure levels were identified. No other major safety issues arose. CONCLUSION: Our meta-analysis suggests that GLP-1RAs provide better glycaemic effects than SGLT-2is in patients with T2DM uncontrolled by metformin, albeit while increasing risk for hypoglycaemia and gastrointestinal adverse events.


Subject(s)
Diabetes Mellitus, Type 2/drug therapy , Glucagon-Like Peptide-1 Receptor/agonists , Hypoglycemic Agents/therapeutic use , Sodium-Glucose Transporter 2 Inhibitors/therapeutic use , Blood Glucose/metabolism , Diabetes Mellitus, Type 2/metabolism , Diarrhea/chemically induced , Diarrhea/epidemiology , Drug Therapy, Combination , Glycated Hemoglobin/metabolism , Humans , Hypoglycemia/chemically induced , Hypoglycemia/epidemiology , Metformin/therapeutic use , Nausea/chemically induced , Nausea/epidemiology , Reproductive Tract Infections/epidemiology
7.
Clin Res Cardiol ; 106(5): 322-330, 2017 May.
Article in English | MEDLINE | ID: mdl-27957627

ABSTRACT

BACKGROUND/INTRODUCTION: The efficacy of catheter-based renal sympathetic denervation (RDN) in terms of blood pressure (BP) reduction has been questioned, while "real-world" data from registries are needed. In this study, we report the complete set of 12-month data on office and ambulatory BP changes as well as the predictors for BP response to RDN from a national registry. METHODS: In 4 Greek hospital centers, 79 patients with severe drug-resistant hypertension (age 59 ± 10 years, 53 males, body mass index 33 ± 5 kg/m2; office BP and 24-h ambulatory BP were 176 ± 15/95 ± 13 and 155 ± 14/90 ± 12 mmHg, respectively, 4.4 ± 0.9 antihypertensive drugs) underwent RDN and were followed-up for 12 months in the Greek Renal Denervation Registry. Bilateral RDN was performed using percutaneous femoral approach and standardized techniques. RESULTS: Reduction in office systolic/diastolic BP at 6 and 12 months from baseline was -30/-12 and -29/-12 mmHg, while the reduction in 24-h ambulatory BP was -16/-9 and -15/-9 mmHg, respectively (p < 0.05 for all). Patients that were RDN responders (85%, n = 58), defined as an at least 10-mmHg decrease in office systolic BP at 12 months, compared to non-responders were younger (57 ± 9 vs 65 ± 8 years, p < 0.05), had higher baseline office systolic BP (176 ± 17 vs 160 ± 11 mmHg, p < 0.05) and 24-h systolic BP (159 ± 13 vs 149 ± 11 mmHg, p < 0.05). Stepwise logistic regression analysis revealed that age, obesity parameters, and baseline office BP were independent predictors of RDN response (p < 0.05 for both), but not the type of RDN catheter or the use of aldosterone antagonists. At 12 months, there were no significant changes in renal function and any new serious device or procedure-related adverse events. CONCLUSIONS: In our "real-world" multicenter national registry, the efficacy of renal denervation in reducing BP as well as safety is confirmed during a 12-month follow-up. Moreover, younger age, obesity, and higher levels of baseline systolic BP are independently related to better BP response to RDN.


Subject(s)
Blood Pressure Determination/statistics & numerical data , Blood Pressure , Hypertension, Renal/physiopathology , Hypertension, Renal/therapy , Kidney/physiopathology , Registries , Sympathectomy/methods , Chronic Disease , Female , Greece , Humans , Hypertension, Renal/diagnosis , Kidney/innervation , Kidney/surgery , Male , Reproducibility of Results , Sensitivity and Specificity , Treatment Outcome
9.
J Hum Hypertens ; 30(12): 742-749, 2016 12.
Article in English | MEDLINE | ID: mdl-26935286

ABSTRACT

Ambulatory blood pressure monitoring is an important tool in hypertension diagnosis and management. Although several ambulatory devices exist, comparative studies are scarce. This study aimed to compare for the first time brachial blood pressure levels of Spacelabs 90217A and Mobil-O-Graph NG, under static and ambulatory conditions. We examined 40 healthy individuals under static (study A) and ambulatory (study B) conditions. In study A, participants were randomized into two groups that included blood pressure measurements with mercury sphygmomanometer, Spacelabs and Mobil-O-Graph devices with reverse order of recordings. In study B, simultaneous 6-h recordings with both devices were performed with participants randomized in two sequences of device positioning with arm reversal at 3 h. Finally, all the participants filled in a questionnaire rating their overall preference for a device. In study A, brachial systolic blood pressure (117.2±10.3 vs 117.1±9.8 mm Hg, P=0.943) and diastolic blood pressure (73.3±9.4 mm Hg vs 74.1±9.4 mm Hg, P=0.611) did not differ between Spacelabs and Mobil-O-Graph or vs sphygmomanometer (117.8±11.1 mm Hg, P=0.791 vs Spacelabs, P=0.753 vs Mobil-O-Graph). Similarly, no differences were found in ambulatory systolic blood pressure (117.9±11.4 vs 118.3±11.0 mm Hg, P=0.864), diastolic blood pressure (73.7±7.4 vs 74.7±8.0 mm Hg, P=0.571), mean blood pressure and heart rate between Spacelabs and Mobil-O-Graph. Correlation analyses and Bland-Altman plots showed agreement between the monitors. Overall, the participants showed a preference for the Mobil-O-Graph. Spacelabs 90217A and Mobil-O-Graph NG provide practically identical measurements during the static and ambulatory conditions in healthy individuals and can be rather used interchangeably in clinical practice.


Subject(s)
Arterial Pressure , Blood Pressure Monitoring, Ambulatory/instrumentation , Blood Pressure Monitors , Brachial Artery/physiology , Sphygmomanometers , Adolescent , Adult , Equipment Design , Female , Greece , Humans , Male , Patient Satisfaction , Predictive Value of Tests , Reproducibility of Results , Surveys and Questionnaires , Time Factors , Young Adult
10.
Neuroscience ; 322: 251-61, 2016 May 13.
Article in English | MEDLINE | ID: mdl-26905952

ABSTRACT

Older adults use a different muscle strategy to cope with postural instability, in which they 'co-contract' the muscles around the ankle joint. It has been suggested that this is a compensatory response to age-related proprioceptive decline however this view has never been assessed directly. The current study investigated the association between proprioceptive acuity and muscle co-contraction in older adults. We compared muscle activity, by recording surface electromyography (EMG) from the bilateral tibialis anterior (TA) and gastrocnemius medialis (GM) muscles, in young (aged 18-34) and older adults (aged 65-82) during postural assessment on a fixed and sway-referenced surface at age-equivalent levels of sway. We performed correlations between muscle activity and proprioceptive acuity, which was assessed using an active contralateral matching task. Despite successfully inducing similar levels of sway in the two age groups, older adults still showed higher muscle co-contraction. A stepwise regression analysis showed that proprioceptive acuity measured using variable error was the best predictor of muscle co-contraction in older adults. However, despite suggestions from previous research, proprioceptive error and muscle co-contraction were negatively correlated in older adults, suggesting that better proprioceptive acuity predicts more co-contraction. Overall, these results suggest that although muscle co-contraction may be an age-specific strategy used by older adults, it is not to compensate for age-related proprioceptive deficits.


Subject(s)
Aging/physiology , Leg/physiology , Muscle Contraction/physiology , Muscle, Skeletal/physiology , Postural Balance/physiology , Proprioception/physiology , Adolescent , Adult , Aged , Aged, 80 and over , Electromyography , Female , Humans , Male , Posture/physiology , Regression Analysis , Young Adult
11.
Curr Vasc Pharmacol ; 12(1): 47-54, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23905594

ABSTRACT

Among current epidemics, chronic kidney disease (CKD) is accompanied with high morbidity and mortality rates inherently associated with the thriving comorbidities of hypertension and cardiovascular disease. In this mutually reinforcing triad, adequate control of high blood pressure emerges as extremely important for decreasing patients' complication rates and prolonging life expectancy. However, hypertension control in this particular group of patients is often proven an arduous task, presenting high rates of resistance. Sympathetic nervous system (SNS) overactivity is implicated not only in the pathophysiological basis of difficult-to-treat hypertension, but also in the development and progression of renal disease, thus rendering SNS a prime therapeutic target in CKD. As renal nerve ablation (RNA) is finding its place among other invasive procedures in the cardiovascular arena, the potential therapeutic impact of this innovative treatment modality is gradually expanding from resistant hypertension to other high blood pressure-related clinical conditions like CKD. Encouraging results of clinical trials testing efficacy and safety of renal nerve ablation in resistant hypertensives provide the opportunity to apply the procedure in other subgroups of hypertensive patients. Available data regarding renal function of study participants suggest the safe implementation of RNA in patients with renal disease, but both unexplored benefits as well as potential hazards should be taken into account and critically evaluated. While renal denervation has been tested in selected cases of patients with renal disease, the results of large, multicenter trials evaluating the effects of this procedure on large cohorts of patients with CKD are eagerly anticipated.


Subject(s)
Catheter Ablation/methods , Hypertension/surgery , Kidney/innervation , Renal Insufficiency, Chronic/surgery , Sympathectomy/methods , Sympathetic Nervous System/physiopathology , Blood Pressure/physiology , Catheter Ablation/instrumentation , Humans , Hypertension/complications , Hypertension/physiopathology , Renal Insufficiency, Chronic/complications , Renal Insufficiency, Chronic/physiopathology , Sympathectomy/instrumentation
12.
Curr Vasc Pharmacol ; 12(1): 38-46, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23905598

ABSTRACT

The sympathetic nervous system is overactivated in resistant hypertension and several other disease conditions. A reciprocal association between the brain and the kidney has been described, in that sympathetic overactivity affects renal function while renal injury stimulates central sympathetic drive. Renal nerve ablation has been recently introduced as a potential alternative for the management of resistant hypertension, mainly due to current limitations in pharmacologic antihypertensive therapy. Data accumulated thus far point towards an efficacious and safe interventional method for the management of treatment resistance, with additional benefits on glucose metabolism and cardiac structure and function. Furthermore, beneficial effects have been observed in patients with chronic kidney disease, obstructive sleep apnea, polycystic ovary syndrome, and sympathetically driven tachyarrhythmias. However, as with every novel technique, several questions need to be answered and concerns need to be addressed before the wide application of this interventional approach.


Subject(s)
Catheter Ablation/methods , Hypertension/surgery , Kidney/innervation , Sympathectomy/methods , Sympathetic Nervous System/physiopathology , Catheter Ablation/adverse effects , Catheter Ablation/instrumentation , Disease Management , Drug Resistance , Humans , Hypertension/physiopathology , Kidney/physiopathology , Randomized Controlled Trials as Topic , Sympathectomy/adverse effects , Sympathectomy/instrumentation , Treatment Outcome
13.
Curr Vasc Pharmacol ; 12(1): 30-7, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23905599

ABSTRACT

Many difficult-to-treat clinical entities in the cardiovascular field are characterized by pronounced sympathetic overactivity, including resistant hypertension and heart failure, underlining the need to explore therapeutic options beyond pharmacotherapy. Autonomic modulation via carotid baroreceptor activation has already been evaluated in clinical trials for resistant hypertension, and relevant outcomes with regard to safety and efficacy of the technique are critically presented. The pathophysiological background of heart failure renders carotid baroreceptor stimulation a potential treatment candidate for the disease. Available data from animal models with heart failure point towards significant cardioprotective benefits of this innovative technique. Accordingly, the effects of baroreceptor activation treatment (BAT) on cardiac parameters of hypertensive patients are well-promising, setting the basis for upcoming clinical trials with baroreflex activation on patients with heart failure. However, as the potential therapeutic of BAT unfolds and new perspectives are highlighted, several concerns are raised that should be meticulously addressed before the wide application of this invasive procedure is set in the limelight.


Subject(s)
Baroreflex/physiology , Carotid Sinus/physiopathology , Electric Stimulation Therapy/methods , Heart Failure/therapy , Hypertension/therapy , Pressoreceptors/physiology , Disease Management , Drug Resistance , Electric Stimulation Therapy/instrumentation , Heart Failure/physiopathology , Humans , Hypertension/physiopathology , Renin-Angiotensin System/physiology , Sympathetic Nervous System/physiopathology
14.
Curr Vasc Pharmacol ; 12(1): 23-9, 2014 Jan.
Article in English | MEDLINE | ID: mdl-23905601

ABSTRACT

Renal sympathetic innervation plays an important role in blood pressure regulation. Gradual activation of renal sympathetic efferent nerves enhances renin release, promotes sodium and water re-absorption, and reduces renal blood flow and glomerular filtration rate. On the other hand, activation of renal afferent sympathetic nerves induced by renal injury results in central sympathetic activation. This reciprocal relationship between the kidneys and the brain is involved in the pathogenesis of hypertension and other disease conditions characterized by sympathetic overactivity. Renal sympathetic nerve ablation has been recently introduced for the treatment of resistant hypertension. This review aims to provide the pathophysiological basis of renal nerve ablation for the attenuation of sympathetic overactivity.


Subject(s)
Catheter Ablation/methods , Hypertension/surgery , Kidney/innervation , Sympathectomy/methods , Sympathetic Nervous System/physiopathology , Afferent Pathways/physiopathology , Animals , Blood Pressure/physiology , Efferent Pathways/physiopathology , Hemodynamics/physiology , Humans , Hypertension/physiopathology , Kidney/physiopathology
16.
Andrology ; 1(4): 556-62, 2013 Jul.
Article in English | MEDLINE | ID: mdl-23657907

ABSTRACT

Traditional cardiovascular risk factors have been acknowledged as major contributors to sexual dysfunction in the general population. The purpose of this study was to explore their impact on sexual function in rheumatologic patients. A total of 557 consecutive rheumatologic patients, 449 females and 108 males, had their sexual function evaluated with the Female Sexual Functioning Index (FSFI) and the International Index of Erectile Function (IIEF) questionnaire respectively. Personal data regarding presence of cardiovascular risk factors were collected and analysed in association with the FSFI and IIEF scores. Mean age of the participants was 54.1 ± 14.1 years, mean body mass index was 27.5 ± 5.29 and mean systolic and diastolic blood pressure was 130.5 ± 19.82 and 79.5 ± 10.51 mmHg respectively. Hypertension was present in 39% of the participants, diabetes mellitus in 10.2%, dyslipidaemia in 33.6% and history of cardiovascular events in 8.6%, whereas smoking was recorded by 28.4% and alcohol consumption by 7.4%. Sexual dysfunction affected 68.6% of our study population (73.5% of females and 48.1% of males, p < 0.001). Logistic regression analysis revealed that age was the only factor associated with a significantly higher prevalence of sexual dysfunction (p < 0.001 for both genders, p = 0.013 in males and p < 0.001 in females). Increased age was identified as the only independent predictor of sexual dysfunction in our population. Apart from age, traditional cardiovascular risk factors failed to explain the increased prevalence of sexual dysfunction in these patients. Other contributing factors (physical and/or psychological) might account for the increased occurrence of sexual dysfunction in rheumatic disorders.


Subject(s)
Cardiovascular Diseases/epidemiology , Rheumatic Diseases/epidemiology , Sexual Dysfunction, Physiological/epidemiology , Adult , Age Factors , Aged , Chi-Square Distribution , Cross-Sectional Studies , Erectile Dysfunction/epidemiology , Erectile Dysfunction/physiopathology , Female , Greece/epidemiology , Humans , Logistic Models , Male , Middle Aged , Multivariate Analysis , Odds Ratio , Penile Erection , Prevalence , Risk Assessment , Risk Factors , Sex Factors , Sexual Behavior , Sexual Dysfunction, Physiological/physiopathology , Surveys and Questionnaires
18.
Clin Exp Rheumatol ; 29(2): 307-9, 2011.
Article in English | MEDLINE | ID: mdl-21385543

ABSTRACT

OBJECTIVES: Patients with clinical signs of vasculopathy were screened with capillaroscopy for microangiopathy, and its presence was evaluated in the diagnosis of antiphospholipid syndrome (APS). For this purpose, autoantibody profiles in high risk patients with microhaemorrhages were correlated with thrombotic events. METHODS: 738 patients from a Rheumatology Outpatients cohort were consecutively screened with capillaroscopy. Patients with microhaemorrhages were selected from the total of individuals screened and tested for anticardiolipin (αCL) and anti-beta2 glycoprotein 1 (anti-ß2GP1) Abs. Positive autoantibody profile was subsequently correlated with arterial and venous thrombotic events. Patients with scleroderma were excluded from the analysis. RESULTS: 149 patients with various rheumatologic conditions and capillary microhaemorrhages were included in the study. Antiphospholipid profile screening in these individuals revealed a 15.4% of newly diagnosed secondary laboratory APS. αCL antibodies and anti-ß2-glycoprotein 1 (anti-ß2GP1 Abs were both found to independently correlate significantly with thrombotic events. Subanalysis of the type of anti-ß2GP1 Abs indicated that the correlation with thrombotic events was significant for IgG-type (p<0.001) and IgM-type (p=0.051), but not IgA-type Abs (p=0.292). CONCLUSIONS: In patients with microhaemorrhages, αCL and anti-ß2GP1 Abs were associated with thrombotic events. The observation that, although IgA type-anti-ß2GP1 Abs were detected in patients with microangiopathy, they lacked any significant association with thrombotic complications, suggests, that either the type/conformation of the autoantibodies and/or additional factors may be critical for the development of thromboses. In conclusion, capillaroscopy can aid diagnostically to screen for or verify APS in combination with other parameters.


Subject(s)
Antiphospholipid Syndrome/complications , Hemorrhage/diagnosis , Hemorrhage/etiology , Thrombotic Microangiopathies/diagnosis , Thrombotic Microangiopathies/etiology , Adult , Aged , Antibodies, Antiphospholipid/blood , Antiphospholipid Syndrome/immunology , Female , Hemorrhage/immunology , Humans , Male , Microcirculation/immunology , Microscopic Angioscopy , Middle Aged , Thrombotic Microangiopathies/immunology , beta 2-Glycoprotein I/immunology
19.
Eur J Clin Invest ; 39(9): 828-32, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19558618

ABSTRACT

BACKGROUND: NF 1 is a genetic disorder with an autosomal dominant pattern of inheritence. It is associated with neoplastic disorders mainly derived from the neural seath. However, the co-existence of NF1 with the full spectrum of MEN 2A has rarely been reported. The aim of the study was to investigate the presence of secondary neoplasias in a patient with diagnosed NF1, and in particular the presence of hyperparathyroidism and the possible co-existence with another pheochromocytoma-related syndrome. METHODS: We report a case of a 70 years old female patient who had NF1. The patient was referred to our center and was diagnosed with an isolated pheochromocytoma of the right adrenal gland for which she underwent right adrenalectomy. We further investigated for the presence of another pheochromocytoma-related syndrome and in particular for the presence of hyperparathyroidism and medullary thyroid cancer. Molecular screening for germline mutations of the genes NF1, RET and VHL has also been performed. RESULTS: The patient was further diagnosed with hyperparathyroidism and medullary thyroid cancer, having the full spectrum of the clinical picture of the MEN2A syndrome. The genetic testing revealed the germline mutation for NF1 but not for the RET proto-oncogene which is generally found in MEN2A cases. CONCLUSION: To our knowledge this is a rare case of co-existence of two pheochromocytoma-related genetic syndromes, and generates the question of whether all patients with these syndromes should undergo a thorough clinical and laboratory investigation for the possibility of another co-existing pheochromocytoma-related genetic syndrome.


Subject(s)
Germ-Line Mutation/genetics , Multiple Endocrine Neoplasia/genetics , Neurofibromatosis 1/genetics , Aged , Female , Genetic Testing , Humans , Multiple Endocrine Neoplasia/diagnosis , Neurofibromatosis 1/complications , Pedigree , Practice Guidelines as Topic , Proto-Oncogene Mas
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