Left anterior descending artery disease in a 27-year-old with multiple endocrine neoplasia, type 2A: A case report.

Multiple endocrine neoplasia 2A is an autosomal dominant disease characterized by medullary thyroid cancer, pheochromocytoma, and primary hyperparathyroidism. Coronary artery disease is associated with the disorder, but the mechanism is unclear. A 27-year-old female presented with chest pain and palpitations. A left heart catheterization was performed and showed 80% stenosis of the left anterior descending artery. Imaging and workup also revealed primary hyperparathyroidism associated with a parathyroid adenoma and elevated serum and urine metanephrines and norepinephrines. A computed tomography of the abdomen revealed a large heterogeneous right adrenal mass measuring 7.9 cm × 6.8 cm × 8 cm consistent with a pheochromocytoma. The patient subsequently underwent adrenal mass resection and a complete thyroidectomy and parathyroidectomy. Early recognition and treatment of multiple endocrine neoplasia 2A can possibly reduce the risk of lethal heart disease in addition to the other associated endocrine disturbances.

Systemic Lupus Erythematous and Neuromyelitis Optica Causing Hypercapnic Respiratory Failure.

BACKGROUND Neuromyelitis optica (NMO) is a rare neurological disease characterized by attacks of transverse myelitis and optic neuritis, contiguous spinal cord lesions on more than 3 vertebral segments on magnetic resonance imaging (MRI), and seropositivity for AQP-4 Ab. The tissue destruction from NMO is immune mediated and results in demyelination and axonal damage. Optic and spinal nerve involvement can eventually lead to blindness, weakness, and altered consciousness, and bladder and bowel involvement in some cases. CASE REPORT A 54-year-old Black woman presented with chest pain, dysphagia, generalized weakness, diplopia, and paresthesias in her bilateral feet. A brain MRI revealed an area of hyperintensity in the cervical medullary junction. A diagnosis of NMO was made after the treatment response was poor for systemic lupus erythematous (SLE) myelitis. She eventually developed acute hypercapnic respiratory failure, became encephalopathic, and was emergently intubated. She was extubated but had poor recovery and was eventually discharged home. CONCLUSIONS NMO is a rare immune-mediated disease that is often delayed in diagnosis and treatment. Clinical suspicion is important since there is a tendency for the disease to overlap concomitant autoimmune diseases in 25% of cases. Progressive and permanent tissue damage can occur despite the use of high-dose steroids, long-term immunosuppressant agents, immunomodulators, exchange transfusions, and even autologous hematopoietic stem cell bone marrow transplantation.

Trends in Early Mortality From Multiple Myeloma: A Population-Based Analysis.

INTRODUCTION: Despite significant improvements in multiple myeloma (MM) treatment modalities, patient mortality early in the course of disease has been identified as a persistent phenomenon with variable reported rates and causes. Trends in early mortality over time have not been clearly defined. PATIENTS AND METHODS: The Surveillance Epidemiology and End Results (SEER) database was used to identify adult patients with MM between 1975 and 2015. Association of available sociodemographic factors with all-cause and MM-specific early mortality (death within 6 months after the diagnosis of MM) was conducted by multivariate analysis. Trends in early mortality were studied by joinpoint regression analysis. RESULTS: Of the 90,975 MM cases included in this analysis, early mortality was noted in 21%. Median age was 68 years overall, and 75 years for the early mortality cohort (P < .01). The most common causes of death for early mortality were MM itself, followed by cardiovascular, infections, and renal failure. Male gender, "other" race/ethnicity group, advancing age, and West, Midwest or South regions (reference Northeast) were associated with increased risk of both all-cause and MM-specific early mortality. Joinpoint regression analysis of trends data resulted in 1 joinpoint for all-cause 6-month mortality (2006-2015), while 2 joinpoints were noticed for myeloma-specific 6-month mortality (1975-1987 and 2003-2015). CONCLUSION: Early mortality remains a significant unmet need for MM patient care, despite improving trends in recent years. Understanding the factors associated with early mortality can help develop individualized plans of patient care and mitigate circumstances that may contribute to early mortality among MM patients.