Chronic elevation of liver enzymes in acute intermittent porphyria initially misdiagnosed as autoimmune hepatitis.

Autoimmune hepatitis is a disease characterized by an elevation of liver enzymes, as well as specific autoantibodies. It is more common in women than men. We describe a 32-year-old woman with elevated transaminases, autoantibodies, and a liver biopsy result suggestive of autoimmune hepatitis. The indicated treatment was administered without showing a satisfactory response. The patient had a family history of acute intermittent porphyria (AIP) so we decided to begin treatment with hematin, achieving a complete remission of the symptoms. Acute intermittent porphyria is a rare condition characterized by neurovisceral symptoms, abdominal pain being the most common of them. The disease has a higher prevalence among young women and certain European countries such as Sweden, Great Britain, and Spain. A correct diagnosis and prompt treatment are essential because patients affected by AIP must have a strict followup due to the fatal outcome of the outbreaks.

Role of the Renin-Angiotensin system and aldosterone on cardiometabolic syndrome.

Aldosterone facilitates cardiovascular damage by increasing blood pressure and through different mechanisms that are independent of its effects on blood pressure. In this respect, recent evidence involves aldosterone in the pathogenesis of metabolic syndrome. Although this relationship is complex, there is some evidence suggesting that different factors may play an important role, such as insulin resistance, renin-angiotensin-aldosterone system, oxidative stress, sodium retention, increased sympathetic activity, levels of free fatty acids, or inflammatory cytokines and adipokines. In addition to the classical pathway by which aldosterone acts through the mineralocorticoid receptors leading to sodium retention, aldosterone also has other mechanisms that influence cardiovascular tissue remodelling. Finally, overweight and obesity promote the adrenal secretion of aldosterone, increasing the predisposition to type 2 diabetes mellitus. Further studies are needed to better establish therapeutic strategies that act on the blockade of mineralocorticoid receptor in the treatment and prevention of cardiovascular diseases related to the excess of aldosterone and the metabolic syndrome.

[The Strategic Plan for the development of Internal Medicine in Andalusia]. / El Plan Estratégico para el desarrollo de la Medicina Interna en Andalucía.

The Strategic Plan for the Development of Internal Medicine in Andalusia arose from the need that the internal medicine doctors had to redefine the purpose and values of their specialty to cope with the numerous changes occurring in the health care area. The project was developed in three phases. First, the tendency of the health care system and current position of the specialty were analyzed. After, the internal and external opinions on the present-future of Internal Medicine were checked out. Finally, five strategic lines with their action plans were established. Specific objectives were defined within each line: results to be achieved, methodology according to action plan. After several years of collegial work in this initiative, very positive results have been achieved. We conclude that the Strategic Plan has been useful to better define the position of our specialty and to state which tools such as those mentioned are effective to cope with the new challenges that may occur in other groups.

[Clinical, functional, mental and sociofamiliar features in pluripathological patients. One-year prospective study in Primary Health Care]. / Características clínicas, funcionales, mentales y sociales de pacientes pluripatológicos. Estudio prospectivo durante un año en Atención Primaria.

OBJECTIVES: To analyze clinical, functional, mental, sociofamiliar, and evolutional characteristics of pluripathological patients (PP) in Primary Health Care setting. PATIENTS AND METHOD: Prospective, multiinstitutional cohort study in four Primary Health Care Institutions by active identification of PP from a computerized registry using the Spanish Andalusian Health Care Council criteria. A clinical interview was proposed to all identified patients. The clinical data, Barthel index (BI), Pfeiffer scale, clinical vulnerability (CV), sociofamiliar features by the Gijon scale, and 1-year admissions and mortality were analyzed. An univariant and multivariant analysis was performed in order to know the risk factors associated to previously described variables. RESULTS: Overall, 806 PP were detected (1.38% of the population). Cardiovascular categories were the most prevalent. A total of 662 patients (69%) were eligible for the interview. Median BI was 90 (0-100), and 24% of patients had severe functional impairment (BI < 60). Twenty-nine percent of them had been admitted to hospital at least once in the last 3 months. Patients with more functional impairment and CV were older, having more defining categories, especially E category. A total of 174 patients (37.75%) had cognitive impairment. This group was older, with more functional impairment, and worse sociofamiliar support. One-year mortality was 6.1%, and was correlated with CV and older age. CONCLUSIONS: The definition of PP used selects in the Primary Care setting a population with a high level of multidimensional frailty having a high prevalence of functional, cognitive deterioration, sociofamiliar problems, CV and consumption of health care resources. Due to this multidimensional deterioration, it is recommendable to make an integral evaluation in the health care practice of these patients.

[Influence of biopsychosocial assessment on degree of doctor-patient empathy in a cohort of patients with multiple diseases]. / Influencia de los factores biopsicosociales en el grado de empatía de la relación médico-enfermo en una cohorte de pluripatológicos.

INTRODUCTION: The biopsychosocial factors that affect or influence empathy in the doctor-patient with multiple disease (PMD) relationship are unknown. This study aimed to determine the patient's own and external factors (from a biopsychosocial point of view) associated to a better empathic relation with health professionals in a multicenter cohort obtained from a population basis. MATERIAL AND METHODS: The multicenter cohort was obtained from four basic health zones, 3 urban and one periurban, from the province of Seville (Southwestern Spain). Empathy was measured with the Likert scale (1-5), by means of an interview (differentiating between family doctor, family nurse and reference internist), by a member of the research team who was not related with patient's care. After that, a factorial analysis was performed, obtaining global empathy as a factor (maximum likelihood method, the summarized three variable matrix, ranging from 0.44 to 0.85). The possible predictive factors of global empathy were chosen from clinical-demographic care features of PMD. Comparisons between groups were performed with the Student's t and ANOVA tests. Correlations were with Pearson correlation quotient. Finally a multivariant analysis was done by linear regression and p < 0.05 was considered statistically significant. RESULTS: Four hundred and sixty (69%) of 662 eligible PMD from the cohort answered the interview. Empathy with family doctor, family nurse and reference internist was 4.39 +/- 0.98; 4.49 +/- 0.87 and 4.48 +/- 0.48, respectively. The median of the global empathy factor was 0.33 (-4.7-1.2). Global empathy was associated to having telephone access to the family doctor (0.56 vs 0.22; p < 0.0001) and to the family nurse (0.58 vs 0.24, p = 0.05), and was inversely correlated with global Gijon scale (r -0.100; p = 0.031) and with two of its dimensions: support (r -0.145; p = 0.002), and income (r -0.167; p < 0.0001). In the multivariant analysis, social evaluation measured by the Gijon index (p = 0.001) and number of drugs prescribed (p = 0.004) independently predicted global empathy. CONCLUSION: In the PMD multicenter cohort, both empathy level with the different health professionals and global empathy were high. The latter was associated with having telephone access to the family doctor and nurse, with number of drugs prescribed and with a good social and family support status.

[Impact of palliative care and clinical features of patients with terminal diseases in areas of Internal Medicine]. / Impacto de los cuidados paliativos y perfil clínico del paciente con enfermedad terminal en un área de Medicina Interna.

INTRODUCTION: The medical assistance to patients with terminal diseases has been structured with Primary Care and Palliative Care Units as protagonists, and with other specialties as secondary roles. Nevertheless the impact of this group of patients in Internal Medicine areas is unknown. Our objective was to evaluate these parameters in the area of Internal Medicine of a tertiary teaching Hospital. MATERIAL AND METHODS: Prospective observational study of all patients attended in Internal Medicine areas during June 2003. Patients were stratified in three cohorts (palliative, pluripathologic, and general). Incidence of palliative patients, origin, clinical features, and burden of hospital care in the last 12 months were analyzed. Univariate analysis of the clinical differences between the palliative and the pluripathologic, and general cohorts was performed, using Chi-square, Fisher, ANOVA and post-hoc tests and Kruskal-Wallis test. RESULTS: 52 (53.8% women; mean age 66.5 +/- 15 years) were included from the global study cohort of 339 patients. Incidence of palliative patients was 15.4/100 admissions. The patients were admitted from other specialties (57.6%), Emergency department (27%), and Primary Care (10%). Mean hospital stay was 14.5 (1-150) days, and survival 63.5%. The 68.5% of deceases occurred at home. Patients of palliative cohort, with respect to general cohort had less functional ability at baseline (47.5 vs 95; p < 0.0001), admission (40 vs 75; p < 0.0001), and at discharge (20 vs 75; p < 0.0001), and more functional deterioration during hospital stay (mean fall in Barthel's values at baseline-discharge of 27.5 vs 20 points; p < 0.003). There were no differences in the burden of hospital care in the previous 12 months. With respect to the cohort of pluripathologic patients, palliative patients were younger (66.5 +/- 15 vs 75 +/- 11 years; p = 0.001) and had similar functional limitations at baseline (47.5 vs 45), admission (40 vs 20) and at discharge (20 vs 20). DISCUSSION: Patients with terminal diseases are prevalent in the clinical setting in areas of internal medicine. These data support the role of the internist in palliative care proceedings, and prompt internists to acquire enough specific abilities to manage competitively these population.

Renin-angiotensin-aldosterone system and G-protein beta-3 subunit gene polymorphisms in salt-sensitive essential hypertension.

Approximately 50% of hypertensive patients are salt sensitive (they increase their Blood Pressure in response to sodium intake or volume expansion). Mechanisms underlying salt sensitivity are not completely elucidated although there is evidence that they may be genetically determined. The aim of this study is to establish the relation among some genetic polymorphisms of the renin-angiotensin system (RAAS) and the beta-3 subunit of the protein G and salt sensitivity. We studied 102 essential hypertensive patients, stage 1-2 and without target organ damage. Salt sensitivity was assessed by the rapid protocol of Weinberger. We determined by polymerase Chain reaction techniques the following polymorphisms: insertion/deletion (I/D) of the angiotensin-converting enzyme (ACE), A1166C of the angiotensin II type 1 receptor (AT1R), -344C/T and intron 2 conversion (IC) of the aldosterone synthase (CYP11B2), and C825T of the beta-3 subunit of the protein G (GNB3). 41 patients (40.19%) were salt sensitive. The distribution of the different polymorphisms was similar in both groups of patients, but subjects carriers of the W allele of the CYP11B2 IC polymorphism had a greater risk for salt sensitivity as compared with no carriers (37 of 41, 90.2% vs 4 of 41, 9.8%, OR 3.02, P<0.05). Although there is no association between salt sensitivity and the different studied genotypes of the RAAS and of the GNB3, our data show a greater risk for salt sensitivity among carriers of the W allele of the CYP11B2 1C polymorphism.

Genetic variation in the beta-3-adrenergic receptor in essential hypertension.

We investigated the role of the beta-3-adrenergic receptor polymorphism in membrane lipid composition and erythrocyte membrane sodium transport in essential hypertensive patients. We studied 87 essential hypertensive patients determining: The Trp64Arg mutation of the beta-3-adrenergic receptor by PCR, lipoprotein profile by standard laboratory methods, membrane lipid composition by IATROSCAN and erythrocyte sodium lithium countertransport by Canessa technique. Patients with the mutation as compared with those without it showed lower membrane cholesterol, membrane cholesterol phospholipids ratio and erythrocyte sodium lithium countertransport, however blood pressure and the other studied variables were similar in both groups of patients. After adjusting by sex sodium lithium countertransport activity remained significant. These data suggest that although the Trp64Arg mutation of the beta-3-adrenergic receptor is related with a different membrane lipid composition and erythrocyte sodium lithium countertransport values it does not contribute to blood pressure levels in essential hypertensive patients.

Gordon's syndrome: increased maximal rate of the Na-K-Cl cotransport and erythrocyte membrane replacement of sphingomyelin by phosphatidylethanolamine.

OBJECTIVE: Gordon's syndrome comprises hypertension, hyperchloremic acidemia, hyperkalemia and intact renal function. We hypothesize that disturbances of one or more cell membrane ion carriers, handling sodium, chloride and potassium, might be relevant in this disorder and, furthermore, that such disturbances might be related to altered.cell membrane composition. DESIGN AND METHODS: In a patient diagnosed with Gordon's syndrome, we assessed the kinetics (K(m) and maximal rate) of four membrane sodium transport systems in sodium-enriched erythrocytes, according to the technique of Garay. We also measured the lipid composition of erythrocyte membrane in this patient and 69 essential hypertensive controls, using the latroscan technique. RESULTS: Compared to reference values of patients with essential hypertension, this patient exhibited a marked increase in the maximal rate of the Na+-K+-2Cl(-)-cotransport (964.0 micromol/l per cell versus the 391.6 +/- 222 micromol/l per cell in essential hypertensives). Also, there was an increased concentration of erythrocyte membrane phosphatidylethanolamine and a reduced concentration of sphingomyelin (27.9 and 11.1% versus 17.9 +/- 3.8% and 18.2 +/- 3.4%, respectively). CONCLUSIONS: We conclude that this abnormality in membrane Na+-K+-2Cl- cotransport could be responsible for the hyperkalemia, hyperchloremic acidemia and increased reabsorption of sodium observed in this condition and, furthermore, that such disturbance in membrane cotransport might be related to altered phospholipid concentration in cell membranes.

[Prevalence of dyslipidemia and its phenotypes in recently diagnosed essential arterial hypertension]. / Prevalencia de dislipemia y de sus distintos fenotipos en la hipertensión arterial esencial de comienzo reciente.

BACKGROUND: To know the prevalence of phenotypic dyslipidemias and their clinical and metabolic characteristics in recently diagnosed hypertensive patients. METHODS: Consecutive study of 158 essential hypertensive patients without previous pharmacological treatment. RESULTS: 69.6% of the patients had some kind of dyslipidemia, being the isolated increase of Lp(a) (27.3%) the most prevalent and the hyperapobetalipoproteinemia the less (10.0%). Age, sex, smoking, alcohol consumption, uric acid, systolic and pulse pressure and serum glucose were different among phenotypes. CONCLUSIONS: Essential hypertensive patients have high and heterogeneous prevalence of dyslipidemias.