The American journal of medicine
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Transthyretin amyloidosis (ATTR) is an under-recognized cause of cardiomyopathy and neuropathy. Until recently, there were limited therapeutic options for ATTR. However, new therapeutics, including tafamidis, patisiran, and inotersen, increase both quality and length of life in patients with ATTR. ⋯ In addition, we discuss emerging ATTR therapies including improvements in drug delivery methods, antibodies to break down deposited amyloid fibrils, and gene editing. ATTR is a prime example of how an understanding of the pathophysiological basis of disease can lead to effective therapies. The future of ATTR therapy is bright, with every reason to believe outcomes will continue to improve.
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Review
Update on the Contemporary Treatment of Light Chain Amyloidosis Including Stem Cell Transplantation.
The management of immunoglobulin light chain (AL) amyloidosis is complex. Emerging data have shown promising results for several novel agents. We review the management of AL amyloidosis, including factors that determine transplant eligibility, treatment options for transplant-ineligible patients, and treatment options for relapsed/refractory AL amyloidosis. ⋯ The latter option is based on a landmark trial that led to the first US Food and Drug Administration-approved therapy for AL amyloidosis. For relapsed/refractory disease, novel therapeutics including proteosome inhibitors, immunomodulatory agents, and monoclonal antibodies have shown promising results. In this review, we summarize data for various therapeutics in different clinical scenarios of AL amyloidosis.
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Review
ERUPTIVE XANTHOMAS: IMPORTANCE OF RECOGNITION TO REDUCE DELAY OF EFFECTIVE TRIGLYCERIDE REDUCTION.
Eruptive xanthomas are localized lipid deposits in the dermis and an important early clue to severe hypertriglyceridemia. These small erythematous or yellow papules that localize to the extensor surfaces of extremities, buttocks, and the back are often overlooked during routine visits secondary to poor familiarity and limited skin examinations. We present 3 cases of patients with eruptive xanthomas and severe hypertriglyceridemia who underwent skin biopsy and waited weeks to years before receiving effective treatment. ⋯ Third, evaluate the Four D's of secondary hypertriglyceridemia: Diet/Lifestyle, Drugs/Medications, and Diseases/Disorders of metabolism. Finally, initiate effective treatment promptly after recognition. This includes beginning with a minimal fat diet and appropriate pharmacological intervention to control triglycerides as outlined in recent guidelines.
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Cervical myelopathy is a clinical syndrome caused by compression of the spinal cord between the levels of the C1 and T1 vertebrae. Its clinical presentation can mimic other degenerative and neurological pathologies, making diagnosis challenging. ⋯ Treatment options are focused on decompression of the spinal canal from an anterior, posterior, or combined anterior and posterior surgical approach depending on the location of compression and patient factors. Outcomes are favorable if treatment is performed prior to severe symptom onset.
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Extracranial carotid atherosclerotic disease has been associated with approximately 15%-20% of ischemic stroke cases and is a leading cause of mortality and disability worldwide. Medical, surgical, and endovascular therapies for the prevention of stroke from carotid disease have advanced considerably over the past quarter century. The objective of this review is to outline the clinical presentation of symptomatic carotid artery stenosis and the risk factors associated with development of carotid artery stenosis and then summarize the current evidence-based medical treatment modalities, along with available surgical and endovascular therapies.