Hereditary Hemorrhagic Telangiectasia: Consequences of Delayed Diagnosis

INTRODUCTION: Hereditary Hemorrhagic Telangiectasia (HHT), a rare autosomal dominant disorder also known as Osler-Weber-Rendu Disease, is often underdiagnosed. The initial symptom tends to be spontaneous and recurrent nose bleeds followed by the development of telangiectasias at multiple mucocutaneous locations. In HHT, patients develop arteriovenous malformations (AVMs) in the spine, lung, brain, and liver. This case examines the impact of delayed diagnosis of HHT. CASE DESCRIPTION: A 36-year-old male with history of alcoholic liver cirrhosis and neurologic deficits due to intraparenchymal hemorrhage (7 months prior) presented to the longitudinal free clinic to establish care and refill seizure medication. On further evaluation, the patient had history of an upper gastrointestinal bleed of unknown etiology in 2013, recurrent spontaneous epistaxis since middle school, telangiectasias on skin and roof of mouth, jaundice, and scleral icterus. Hemoglobin was decreased, but in proportion to his nosebleeds. CT angiogram two months prior showed cerebral AVMs. The diagnosis of HHT was confirmed with three of the four Curacao Criteria. Further evaluation was needed to assess for disease complications including gastrointestinal bleeding and pulmonary and hepatic AVMs. Transthoracic contrast echo with agitated saline, a screen for pulmonary AVMs, was positive. Abdominal ultrasounds showed an AVM in the left lobe of the liver. Due to a continual decrease in hemoglobin, an upper gastrointestinal study was ordered. Interventional radiology and neurovascular specialist were needed to evaluate possible embolizations of AVMs. Care would ideally be managed at a HHT center but due to the uninsured status of the patient this was challenging. Patient is currently stable and has not developed any new symptoms since establishing care. DISCUSSION: Many physicians who manage the complications of this disease are unfamiliar with the genetic condition; therefore, this disorder is often under-diagnosed. Diagnosis is made when three of four Curacao Criteria are met. The criteria are spontaneous and recurrent epistaxis, mucocutaneous telangiectasia, a first-degree relative with diagnosis, and multi-organ AVMs. An earlier diagnosis could have been made if his previous physicians were more aware of the disease, its associated signs and complications, and had conducted a more thorough history and physical exam. Unfortunately, the diagnosis of HHT was made months after the patient experienced a life-threatening hemorrhagic stroke caused by a cerebral AVM, resulting in neurologic deficits. Hopefully with the knowledge of his diagnosis, physicians will continually screen and evaluate him to prevent serious complications in the future.N

Predictive Factors of Follow-Up in Early Lifestyle Intervention for Childhood Obesity

BACKGROUND: The Early Lifestyle Intervention (ELI) Clinic is an OU Physicians Pediatrics specialty clinic dedicated to helping children achieve healthier weights via behavioral modification through a multidisciplinary team approach. Children between 2–18 years of age from North Eastern Oklahoma are eligible for ELI referral if their BMI is at the 95th percentile or above. It is estimated that 30–40% of patients never make their ELI appointments after referral. This study explored predictive factors of patient follow-up to these appointments. METHODS: A retrospective chart review of 121 pediatric patients with ELI referrals made between January 2010 and March 2018 was conducted. Patients were grouped into three categories based on follow-up status for this intervention: immediate (attended first ELI appointment made at time of referral), late (did not attend first ELI appointment but eventually saw ELI provider), and never attended an ELI appointment. Demographic, medical, and social data were extracted from each patient’s medical record, including comorbid conditions such as musculoskeletal pain and past medical interventions such as obesity counseling. Reported comorbidities and conditions in family medical histories were documented for each patient according to the organ system affected. Associations between clinical and family factors and follow-up status were evaluated using the χ2 test, Fisher exact test, 1-way analysis of variance, and Kruskal-Wallis H test in SPSS. RESULTS: The majority of patients were Hispanic (n=73, 60.3%) and male (n=65, 53.7%), with an average age of 7.81 years (+ SD, 3.82 yrs). Frequency of obesity counseling from a healthcare provider and reported musculoskeletal pain differed significantly among groups. 31% of patients with timely follow-up experienced musculoskeletal pain compared to 3% of those with no follow-up and late follow-up. In addition, patients in the timely follow-up group had the highest frequencies of obesity counseling. The organ systems-based approach of conditions in family histories showed cardiovascular disease and endocrine disorders to be present in all patient groups with no significant difference across groups. CONCLUSION: The results suggest that providers who document counseling their patients about childhood obesity more frequently prior to ELI referral can improve their patients’ follow-up rates. Additionally, musculoskeletal pain was the only comorbidity significantly associated with attending ELI clinic. This suggests that most comorbid conditions associated with childhood obesity have a limited effect on motivating parent/patient behavior to seek longitudinal intervention.N

ANTIVENOM OR OBSERVATION FOR PATIENTS WITH COPPERHEAD ENVENOMATION?

Retrospective cross-sectional review of treatment and outcomes in patients with crotawline snake bites