Hereditary Hemochromatosis: Rapid Evidence Review.

Hereditary hemochromatosis is an autosomal recessive disorder that disrupts iron homeostasis, resulting in systemic iron overload. It is the most common inherited disorder among people of northern European ancestry. Despite the high prevalence of the gene mutation, there is a low and variable clinical penetrance. The deposition of excess iron into parenchymal cells leads to cellular dysfunction and the clinical manifestations of the disease. The liver, pancreas, joints, heart, skin, and pituitary gland are the most commonly involved organs. Hereditary hemochromatosis is usually diagnosed in the 40s or 50s. Women are often diagnosed later than men, likely because of menstrual blood loss. There is no typical presentation or pathognomonic signs and symptoms of hereditary hemochromatosis. Because of increased awareness and earlier diagnosis, the end-organ damage secondary to iron overload is not often seen in clinical practice. A common initial presentation is an asymptomatic patient with mildly elevated liver enzymes who is subsequently found to have elevated serum ferritin and transferrin saturation. Ferritin levels greater than 300 ng per mL for men and 200 ng per mL for women and transferrin saturations greater than 45% are highly suggestive of hereditary hemochromatosis. Phlebotomy is the mainstay of treatment and can help improve heart function, reduce abnormal skin pigmentation, and lessen the risk of liver complications. Liver transplantation may be considered in select patients. Individuals with hereditary hemochromatosis have an increased risk of hepatocellular carcinoma and colorectal and breast cancers. Genetic testing for the hereditary hemochromatosis genes should be offered after 18 years of age to first-degree relatives of patients with the condition.

Pleural and pericardial effusions with fever and altered mental status: an atypical presentation of bartonellosis.

A male in his 60s presented to the emergency department (ED) with a 3-week history of fever and progressive confusion. Initial laboratory and radiographic workup was largely unremarkable except for moderate bilateral pleural effusions. The patient was admitted on broad-spectrum antibiotics and further workup for fever of unknown aetiology. The differential diagnosis was broadened to different zoonotic infections, and subsequent laboratory testing showed a markedly elevated Bartonella henselae IgG and Bartonella quintana IgG (1:4096 and 1:512, respectively) in addition to positive B. henselae IgM titre (>1:20). During hospitalisation, the patient became more hypoxic and was found to have enlarging pleural effusions as well as a new pericardial effusion. The patient was treated with intravenous then oral doxycycline 100 mg two times per day and oral rifampin 300 mg two times per day for 4 weeks with subsequent improvement in clinical status as well as both effusions. This case highlights a unique presentation of Bartonella and its rare manifestation of pleural and pericardial effusions.

Another case of cryptococcal meningitis in a person without HIV who injects drugs: A possible risk factor in need of further investigation.

Cryptococcal meningitis is a fungal central nervous infection typically occurring in patients with severe immunocompromise. We present a case of cryptococcal meningitis occurring in a patient with active injection drug use (IDU) but no immunocompromising condition. This is the seventh case in the recent literature of cryptococcal central nervous involvement in an otherwise healthy young person with IDU, suggesting a possible association in need of further exploration.

90-year-old man • dyspnea • lower extremity edema • limitations in daily activities • Dx?

► Dyspnea ► Lower extremity edema ► Limitations in daily activities.

Student and Preceptor Experiences in a Mini Longitudinal Integrated Clerkship: A Participatory Self-Study.

INTRODUCTION: Students participating in longitudinal integrated clerkships (LIC) experience longitudinal, comprehensive care of patients, report improved satisfaction with their training, and express increased interest in pursuing a career in primary care. To gain these benefits without requiring major curricular change, Ohio University Heritage College of Osteopathic Medicine created a year-long mini LIC (mLIC). As participants in the mLIC, we sought to measure our own experiences, gathering data in a systematic way to share our perceptions. METHODS: We developed an online survey that included scale and open-ended questions. Eight students and three cooperating preceptors completed the survey. We analyzed short answer responses thematically; we analyzed multiple choice responses using descriptive statistics. RESULTS: Participants reported increased interest in underserved rural primary care. Students described the continuity with patients as the most beneficial aspect. Students felt the increased autonomy, self-learning, and hands-on nature of the mLIC increased clinical confidence and preparedness for intern year. Students stated the mLIC provided learning opportunities they would not have experienced in traditional block-based clerkships, including longitudinal relationships and prolonged exposure to primary care. Preceptors stated they were able to learn new ideas from the students and were surprised by how much they benefited from the experience. CONCLUSION: Students did experience many of the benefits of a traditional LIC in our mLIC format focused on a longitudinal experience in family medicine. Students and preceptors were positively impacted and felt the mLIC led to increased student learning, professional development, and increased preceptor satisfaction. Our conclusions are limited by the small sample size included in our study.