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.
Hemophilia, primarily diagnosed in infancy and early childhood, is a genetic disorder
characterized by spontaneous or excessive bleeding predominantly into the weight-bearing
joints or muscles. Most individuals are impacted through adolescence, adulthood, and into old
age. This CME-accredited activity will review recent breakthroughs addressing the limitations of
regular, prophylactic infusion of missing coagulation factors VIII/IX, discuss current and
emerging therapies and treatment regimens, highlight risks and prevention of progressive
degenerative joint changes, and explore practical implications of novel developments, while
addressing “transition strategies” for adolescent care in the changing landscape of hemophilia.
Lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features including developmental delay, behavioral/psychiatric disturbances, seizures, acroparesthesia, motor weakness, cerebrovascular ischemic events, and extra-pyramidal signs.
Late-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life.
X-linked hypophosphatemia (XLH) is an inherited, lifelong disease of phosphate metabolism in which inactivating mutations of the PHEX gene causes a loss of phosphate wasting and leads to an increased concentration of fibroblast growth factor 23 (FGF23), which regulates the reabsorption of phosphate in the kidneys. Simply stated, XLH is known for increased secretion of FGF-23, which leads to hypophosphatemia and consequently osteomalacia, rickets, and skeletal deformities.
The principle acquired form of FGF23-mediated hypophosphatemia is tumor-induced osteomalacia (TIO), a rare disease characterized by the development of phosphaturic mesenchymal tumors (PMTs) that are typically non-malignant and slow-growing.
This accredited activity intends to close knowledge and practice gaps by addressing the link between both disorders. Devising treatment plans that incorporate the latest developments in the management of these disorders will also be addressed.