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.
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate
wasting and is associated with severe complications such as rickets, lower limb deformities,
pain, poor mineralization of the teeth and disproportionate short stature in children.
Characteristics and severity of XLH vary between patients. Because of its rarity, the diagnosis
and specific treatment of XLH are frequently delayed, which has a detrimental effect on
In this CME-accredited activity, we will discuss strategies for improving early detection of
XLH by recognizing clinical signs and symptoms, provide guidance for treatment initiation
and ongoing optimal therapeutic management through sample case scenarios that may be
seen in clinical practice.