Recognizing Pompe disease, a progressive, debilitating and often fatal neuromuscular disease caused by a genetic deficiency or dysfunction of the lysosomal enzyme acid alpha-glucosidase (GAA), can be challenging, as its signs and symptoms are like those of other diseases and disorders. As a result, Pompe disease may not be readily considered during the clinical work up and significant diagnostic delays are common in many patients. During this activity, we shall review the importance of early diagnosis, how the disease can present at different ages through sample case vignettes, as well as discuss advances in the ongoing monitoring and management of these patients. Early recognition is critical for improved outcomes since the disease continues to progress relentlessly, with many patients going undiagnosed for years, with debilitating and often life-threatening impact.
Genetic metabolic diseases, rare disorders with a wide variety of clinical phenotypes, are commonly associated with significant morbidity and mortality. Patients with acute and acute-on-chronic presentations show up in pediatric and adult emergency departments, often in life-threatening circumstances. In some pediatric cases, the diagnoses are already known because the patients have been identified through the newborn screening process or by a specialist. However, most metabolic diseases are not included in the newborn screening panel, and the diagnosis is usually missed or unknown in late-onset cases. This symposium provides emergency medicine clinicians with a practical approach to identify recognizable pediatric and adult metabolic conditions, as well as guidelines for administering first-line treatment that can be lifesaving. In addition to a didactic ppt presentation, this half hour on-demand webinar will also incorporate a sample case presentation of a patient’s experience with a “metabolic crisis”..
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a common genetic disease that is underrecognized, underdiagnosed and often misdiagnosed as COPD or asthma. It can cause liver and lung disease. The liver makes a protein called alpha-1 antitrypsin that goes into the bloodstream. This protein protects the lungs and allows them to work normally. If there is not enough alpha-1 antitrypsin, it is called alpha-1 antitrypsin deficiency. Although Alpha-1 is one of the most common genetic life-threatening diseases worldwide, with an incidence comparable to that of cystic fibrosis, it remains underrecognized and undertreated and therefore continues to pose a significant health threat. According to the Alpha-1 Foundation, it is estimated that 1 in every 2,500 Americans have Alpha-1 yet less than 10% have been diagnosed. This exemplifies a significant healthcare knowledge gap. Many nurses have suboptimal knowledge/awareness of this genetic disorder and easily misdiagnose it for asthma or COPD, leading to an increased risk of patient mortality. This on-demand accredited activity intends to close knowledge gaps by increasing awareness regarding Alpha-1, which is paramount to increasing the number of identified carriers, provide strategies for diagnosing and treating these patients, therefore preventing further damage to improve patient outcomes and prolong their life span.
Our understanding of cancer genomics is dramatically changing cancer diagnostics, leading the way to personalized cancer care. Delivering comprehensive genomic profiling for clinical cancer care is transforming cancer care. Therapy targeting the alterations that drive an individual patient’s cancer can yield dramatic results. When correctly implemented, next generation sequencing (NGS) methods provide millions of individual observations that are representative of the genetic makeup of a sample. Hybridization capture of target genomic regions allows NGS to be used for comprehensive profiling of clinical oncology specimens. This enduring activity intends to close knowledge and competence gaps regarding the use of comprehensive genomic profiling, allowing physicians to prescribe the most effective, targeted cancer treatments to patients based on the genomic information specific to their own cancer (precision medicine).
Von Willebrand disease, the most common inherited bleeding disorder worldwide and a cause of heavy menstrual bleeding in adolescent girls and women, is widely underrecognized. The underdetection of vWD is a missed opportunity to decrease the risk of obstetric/gynecologic symptoms such as spontaneous abortion, ovarian cysts, postpartum hemorrhage, and a diminished QoL. This educational activity intends to enhance HCP knowledge through discussion of proper diagnosis of this congenital bleeding disorder, and competence in applying best management practices in the multidisciplinary approach to treatment, through discussion of recent therapeutic developments, prophylaxis efficacy and current use, and addressing strategies for care, with the ultimate goal of improving patient quality of life.
An important part of coordinated care for Pompe disease patients, whether diagnosed thru NBS, clinical diagnosis, or prenatal diagnosis, is genetic counseling. Genetic counselors help families better understand Pompe disease, what to expect at different ages including symptoms, medical recommendations, and treatment options, while providing available resources so families with the affected child, and adults diagnosed with Pompe disease, can make informed decisions. This activity intends to close this knowledge/practice gap by helping guide genetic counselor efforts by providing a clear understanding of the role for families or carriers of Pompe disease identified thru NBS; explain special considerations (i.e., diagnosis of LOPD, before appearance of symptoms) and impact and implications associated with genetic risk, carrier status, and preconception counseling, ending with a framework for a standardized approach to genetic counseling for patients and at-risk family members.
Supported through an educational grant from SANOFI GENZYME.
Fabry disease is the second most common lysosomal storage disorder, affects the cells of multiple organ systems. With a high variability in disease manifestations, the disease can differ from one individual to another, making diagnosis and management a challenge. Growing evidence suggests that initiating certain treatments early in the disease process—before organ damage has ensued—may benefit clinical outcomes and reduce serious complications. Genetic counselors play an important role in providing supportive care strategies by educating patients on Fabry disease, the role of genetic testing, and how the disease can impact patient life and family members. This activity will review these issues including sample patient case scenarios.
Supported through an educational grant from SANOFI GENZYME.