The Role of Reverse Cascade Screening in Children with Familial Hypercholesterolemia: A Literature Review and Analysis.

PURPOSE OF REVIEW: Familial Hypercholesterolemia (FH) is a common genetic disorder characterized by lifelong elevation of severely elevated plasma low-density lipoprotein cholesterol. Atherosclerotic cardiovascular disease (ASCVD) risk accelerates after age 20. Early diagnosis allows for treatment of children with FH and creates an opportunity to identify affected relatives through reverse cascade screening (RCS). Historically, cascade screening has had little impact on identifying individuals with FH. RECENT FINDINGS: Universal cholesterol screening (UCS) to identify youth with FH, beginning at 9-11 years-of-age, is currently recommended in the U.S. The European Atherosclerosis Society has called for UCS worldwide, emphasizing the need for educational programs to increase awareness amongst healthcare professions. Underdiagnoses and undertreatment of FH remain high. Improved rates of UCS and a systematic approach to RCS are needed. The absence of a coordinated RCS program limits the benefits of UCS. Further research is needed to identify barriers to cholesterol screening in youth.

An Unusual Presentation of Blastomycosis.

INTRODUCTION: Blastomycosis is a rare pyogranulomatous infection that most commonly involves the lungs and sometimes the skin. Other manifestations are much less common. Diagnosis relies on biopsy, histopathology, and culture of suspicious lesions. CASE PRESENTATION: In this case, a healthy 42-year-old male from Wisconsin presented to the emergency department with a chief complaint of 2 weeks of knee pain without a clear mechanism of injury. Upon further examination, he was found to have lesions on his abdomen, which he had first noticed over 3 years prior and had been treated with antibiotics as cellulitis for nearly 18 months. Biopsy of these lesions was consistent with blastomycosis infection, and further work-up and examination was notable for brain and laryngeal lesions without any pulmonary involvement. Intense anti-fungal treatment was immediately initiated with dramatic improvement in his symptoms. DISCUSSION: This case highlights the importance of a thorough physical exam and consideration of rare infections in cases without clear answers. To our knowledge, this is the first published example of a blastomycosis infection involving brain, laryngeal, skin, and knee lesions without pulmonary infection.