[Disseminated nodular primary localized cutaneous amyloidosis]. / Amiloidosis cutánea primaria localizada nodular con patrón diseminado.

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions.

Amiloidosis cutánea primaria localizada nodular con patrón diseminado / Disseminated nodular primary localized cutaneous amyloidosis

El amiloide es un material proteináceo que se deposita en los tejidos en una gran variedad de situaciones clínicas; en la piel puede ser hallado con o sin afectación sistémica concomitante. La amiloidosis cutánea primaria localizada designa a aquellas amiloidosis con afectación exclusivamente cutánea, sin afectación a otros niveles. Las formas más comunes dentro de este grupo son la amiloidosis macular y el liquen amiloideo. La amiloidosis nodular es extremadamente infrecuente y mantiene importantes diferencias clínicas, pronósticas, histológicas y patogénicas con respecto a las variantes macular y liquenoide. Presentamos un nuevo caso de amiloidosis cutánea primaria localizada nodular con placas y nódulos diseminados, que no desarrolló afectación sistémica tras tres años desde el debut de las lesiones (AU)

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions (AU)

[Periodic familial fever]. / Fiebre periódica hereditaria.

The familial periodic fevers are Known as autoinflammatory syndromes. It is important in clinical practice to recognize these uncommon illnesses characterized by recurrent bouts of unspecific systemic symptoms associated to elevation of acute phase reactants without autoantibodies or underlying infection. The clinical suspicion supported on the molecular diagnosis represents a new perspective in relation to treatment and prognosis of these patients.

Fiebre periódica hereditaria / Periodic fever familial

Las enfermedades que se incluyen dentro del grupo de fiebres periódicas hereditarias forman parte del nuevo concepto de fenómeno “autoinflamatorio”.El conocimiento de esta entidad permite reconocer en la práctica clínica este grupo de enfermedades infrecuentes que se caracterizan por manifestaciones sistémicas inespecíficas recurrentes asociadas a elevación de reactantes de fase aguda con estudio de autoinmunidad negativo y sin evidencia de infección subyacente. La sospecha clínica apoyada en los avances de las técnicas de diagnóstico molecular permite dar al paciente una nueva perspectiva en cuanto al pronóstico y tratamiento

The familial periodic fevers are Known as autoinflammatory syndromes. It is important in clinical practice to recognize these uncommon illnesses characterized by recurrent bouts of unspecific systemic symptoms associated to elevation of acute phase reactants without autoantibodies or underlying infection. The clinical suspicion supported on the molecular diagnosis represents a new perspective in relation to treatment and prognosis of these patients

The role of endothelial progenitor cells and statins in endothelial function: a review.

Endothelial dysfunction, a well recognized marker of cardiovascular risk, is an early event in arteriosclerosis process. Diabetes mellitus, hypertension and dyslipidemia, known risk factors for coronary disease have been associated with endothelial dysfunction, which improves after the control of these factors. Statins have additional benefits on endothelial function not related to decreasing cholesterol levels, known as pleiotropic effects. Most recently it has been reported the effect of statins promoting bone marrow-derived mononuclear cells. These cells are positive for CD34 and KDR superficial markers of endothelial cellular lineage, which is consistent with the hypothesis that they constitute the endothelial progenitor cells. Circulating endothelial progenitor cells are involved in the repair process of the endothelium after endothelial-cell injury in myocardial ischemia, angina and other stressful situations. Recent studies have demonstrated an inverse relationship between the EPC count in peripheral blood and risk of developing a cardiovascular event. In addition, circulating EPC correlates with the presence of endothelial dysfunction and could play a role as a surrogate biologic marker in vascular function. The effect of statins on endothelial progenitor cells might contribute to improve endothelial function leading to a decrease in vascular risk, independently of their impact on LDL cholesterol. In this paper, we review the role of statins in EPC mobilization, its effect in endothelial function restoration and the relevance of this finding in cardiovascular risk. We also review future therapeutic implications.

Acidosis láctica, hipoglucemia severa y hepatoesplenomegalia / Lactic acidosis, severe hypoglycemia and hepatosplenomegaly

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[Crohn s disease: is still the reason of fever of unknown origin?]. / Enfermedad de Crohn: ¿todavía hoy causa de fiebre de origen desconocido clásica?

We present two patients with Crohn's disease who presented with fever unknown origin, and mild intestinal symptoms. In case 1, the debut was with intermittent fever and symmetrical polyarthritis of the wrists, elbows, ankles and knees; in the case 2, prolonged fever associated to unspecific colicky abdominal pain. The initial approach was fever unknown origin yielded no etiology in both of them. The barium studies of the intestinal tract of paramount importance to reach a positive diagnosis in both cases. We strongly recommend the use of barium studies as a first line diagnostic tool in the approach of fever unknown origin.

[Effect of renin-angiotensin system in Fabry disease associated proteinuria]. / Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry.

AIM: To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. MATERIAL AND METHODS: We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. RESULTS: Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. CONCLUSIONS: Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients.

Anemia regenerativa y mielofibrosis / Regenerative anemia and myelofibrosis

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Efecto del bloqueo del sistema renina-angiotensina en la proteinuria asociada a la enfermedad de Fabry / Effect of renin-angiotensin system in Fabry disease associated proteinuria

Objetivo. Describir la prevalencia de afectación renal y evaluar el papel del bloqueo del sistema renina-angiotensina en el tratamiento de la nefropatía en la enfermedad de Fabry (EF). Material y métodos. Se estudió una familia de ocho miembros afectados por la EF, diagnosticada mediante estudio bioquímico de la enzima deficitaria y la demostración de la mutación. Durante los 3 años de seguimiento se realizaron determinaciones seriadas cada seis meses, de creatinina, urea, aclaramiento de creatinina, sedimento urinario, microalbuminuria y proteinuria en orina, así como control de la tensión arterial y de la glucemia. En el momento de la detección de microalbuminuria, se inició tratamiento con inhibidores de la enzima convertidora de la angiotensina (IECA) o antagonistas de los receptores de angiotensina II (ARA II). Al final del seguimiento se realizó ecografía renal simple y doppler. Resultados. Seis de los ocho pacientes estudiados presentaron microalbuminuria en algún momento de la evolución, de los cuales sólo uno no desarrolló proteinuria franca. El tratamiento IECA produjo una disminución de la cuantía de la proteinuria en todos los pacientes, llegando ésta a desaparecer en cuatro casos, en uno persistió proteinuria franca y en el restante microalbuminuria. La afectación renal apareció de forma independiente al tratamiento enzimático sustitutivo. La ecografía renal no reveló alteraciones significativas en los pacientes sin alteración urinaria en el momento de la realización, y tan sólo en un caso detectó un leve aumento de los índices de resistencia, en el caso de la paciente que presentaba proteinuria persistente. Conclusiones. La afectación renal manifestada como microalbuminuria/proteinuria se da en la mayoría de los pacientes con EF (en 6/8 en nuestra serie). En este contexto, los IECA constituyen un buen tratamiento y conducen con frecuencia a la desaparición de la proteinuria (4/6). Dado lo pequeño de la serie, estos datos están por confirmar con series mayores de casos. La ecografía renal doppler no detecta lesión renal precoz en los pacientes con EF, pero dado lo inocuo de la técnica debería recomendarse su realización de rutina. Hasta el momento ésta es la primera serie que analiza el efecto del bloqueo del sistema renina-angiotensina que ha sido publicada (AU)

Aim. To describe the prevalence of renal involvement in Fabry disease patients and determine the role of ACE inhibitors in its treatment. Material and methods. We studied a family of eight members, diagnosed of Fabry disease after demonstrating alpha-galactosidase deficiency and genetic mutation. Serial biochemical analyses were performed every six months during the three years of follow-up: creatinine, urea, creatinine clearance, proteinuria, microalbuminuria, urinary sediment, blood pressure and glycemia. If urinary alterations were detected, ACE inhibitors were started. At the end of the study, a simple and Doppler ultrasonography was performed. Results. Six of eight patients presented microalbuminuria during the follow-up. Only one of these patients did not develop proteinuria. ACE inhibitors therapy decreased proteinuria in all six patients, however, this decrease was not complete in two of them: in one proteinuria was detected and in the other microalbuminuria persisted. Kidney involvement was not dependent on enzymatic substitution therapy. Renal ultrasonography was normal in patients without biochemical sign of renal affection. In one patient with proteinuria at the moment of the ultrasonography, slightly increased resistance indexes were detected. Conclusions. Renal involvement is very frequent in patients with Fabry disease (in six of eight in our series). ACE inhibitors are effective in controlling proteinuria in patients with microalbuminuria y proteinuria. These data must be confirmed in larger series. Doppler ultrasonography fails in early renal involvement detection, but as it constitutes an easy and not dangerous technique, it should be done routinely in Fabry patients in order to evaluate its role in the follow-up of these patients (AU)