Cardiac amyloidosis: a practical approach to diagnosis and management

Cardiac amyloidosis, the primary determinant of prognosis in systemic amyloidoses, is characterized by infiltration of myocardium by amyloid protein resulting in cardiomyopathy and conduction disturbances. Cardiac involvement is primarily encountered in immunoglobulin (AL) and transthyretin-associated (hereditary/familial and senile) amyloidoses. Although the latter variants could be indolent, untreated AL amyloidosis with clinical cardiac involvement is a rapidly fatal disease. The management decisions of cardiac amyloidosis are based on the underlying cause. Although treatment of senile systemic amyloidosis is largely supportive, the therapeutic approaches for AL amyloidosis include chemotherapy, autologous stem cell transplantation, and, rarely, cardiac transplantation. The familial variant is potentially curable with a liver ± cardiac transplantation. This narrative review outlines a practical approach to these challenging diagnoses in the face of rapidly evolving management strategies.     

Eosinophilic esophagitis: a practical approach to diagnosis and management

Eosinophilic esophagitis (EoE) has emerged as a common cause of dysphagia and food impaction in children and adults. A trial of proton pump inhibitor (PPI) therapy is a mandatory diagnostic first step, given that at least one third of patients with suspected EoE will have PPI-responsive esophageal eosinophilia. Once EoE is diagnosed, short-and long-term therapeutic decision making may rely on patient symptoms, phenotype (inflammatory vs fibrostenotic) and preferences. Currently, the most reliable therapeutic targets are mucosal healing and caliber abnormalities resolution. Topical steroids followed by endoscopic dilation are recommended in symptomatic narrow caliber esophagus/strictures, whereas either topical steroids or dietary therapy are good short-term options for mucosal inflammation. Maintenance anti-inflammatory therapy is necessary to prevent esophageal fibrotic remodeling and stricture formation.     

Inherited platelet disorders: a clinical approach to diagnosis and management

Inherited platelet disorders encompass a heterogeneous group of bleeding disorders where a variety of molecular defects can affect platelet number, function or both. The defects involve deficiencies or dysfunction of platelet receptors, signaling pathways, cytoskeletal proteins, granule contents and abnormalities in procoagulant activity. These disorders can be difficult to distinguish clinically as they present with the common symptom of mucocutaneous bleeding. Inherited thrombocytopenia needs to be considered in all patients suspected of having primary immune thrombocytopenia, where platelets may also have functional defects. After a careful history and physical examination, initial investigations include a complete blood count with a peripheral smear, followed by appropriate specific investigations that often require specialized referral centers. This article is a summary of the current data on clinical presentation, pathogenesis, diagnosis and management of inherited platelet disorders.     

IBD and arthropathies: a practical approach to its diagnosis and management

Arthropathies are a major clinical problem in patients with inflammatory bowel disease (IBD). Often it is difficult to control the articular symptoms with the anti-inflammatory strategies used for IBD. Studies evaluating specific treatments aimed at articular manifestations in patients with IBD are rare. Although there has been considerable interest in the gut-joint axis over the last decade, the pathophysiological mechanisms driving IBD-associated arthropathy are still unknown. Recently, interest in the multidisciplinary approach to patients with IBD and arthropathy has been increasing. New research and clinical projects aimed at understanding the mechanisms of disease may advance the development of effective therapies. In this review, the pathophysiology of IBD-associated arthropathy is discussed, as well as clinical manifestations, the classification and current therapeutic strategies.     

Inherited thrombocytopenias: an approach to diagnosis and management

Inherited thrombocytopenias vary in their presentation, associated features, and molecular etiologies. An accurate diagnosis is important to provide appropriate therapy as well as counseling for the individual and their family members. As the genetic basis of more disorders is understood, it will be possible to diagnose a greater fraction of patients as well as learn more about the process of megakaryopoiesis and platelet production.     

Guidelines on management (diagnosis and treatment) of syncope.

No Abstract ^f1 Correspondence: Michele Brignole, MD, FESC, Department of Cardiologyand Arrhythmologic Centre, Ospedali Riuniti, 16033 Lavagna,Italy. This document has been reviewed by members of the Committeefor Practice Guidelines (formerly Committee for Scientific andClinical Initiatives) and by the members of the Board of theEuropean Society of Cardiology (see Appendix 1), who approvedthe document on 8 March 2001. The full text of this documentis available on the website of the European Society of Cardiologyin the section ‘Scientific Information’, Guidelines.     

Guidelines for the diagnosis and management of hereditary spherocytosis

Hereditary spherocytosis (HS) is a heterogeneous group of disorders with regard to clinical severity, protein defects and mode of inheritance. It is relatively common in Caucasian populations; most affected individuals have mild or only moderate haemolysis. There is usually a family history, and a typical clinical and laboratory picture so that the diagnosis is often easily made without additional laboratory tests. Atypical cases may require measurement of erythrocyte membrane proteins to clarify the nature of the membrane disorder and in the absence of a family history, occasionally molecular genetic analysis will help to determine whether inheritance is recessive or non-dominant. It is particularly important to rule out stomatocytosis where splenectomy is contraindicated because of the thrombotic risk. Mild HS can be managed without folate supplements and does not require splenectomy. Moderately and severely affected individuals are likely to benefit from splenectomy, which should be performed after the age of 6 years and with appropriate counselling about the infection risk. In all cases careful dialogue between doctor, patient and the family is essential. Laparoscopic surgery, when performed by experienced surgeons, can result in a shorter hospital stay and less pain.