Pharmacogenetics of Drug Therapies in Rheumatoid Arthritis.

Rheumatoid arthritis (RA) is a chronic systemic inflammatory disorder that can lead to severe joint damage and is often associated with a high morbidity and disability. Disease-modifying anti-rheumatic drugs (DMARDs) are the mainstay of treatment in RA. DMARDs not only relieve the clinical signs and symptoms of RA but also inhibit the radiographic progression of disease and reduce the effects of chronic systemic inflammation. Since the introduction of biologic DMARDs in the late 1990s, the therapeutic range of options for the management of RA has significantly expanded. However, patients' response to these agents is not uniform with considerable variability in both efficacy and toxicity. There are no reliable means of predicting an individual patient's response to a given DMARD prior to initiation of therapy. In this chapter, the current published literature on the pharmacogenetics of traditional DMARDS and the newer biologic DMARDs in RA is highlighted. Pharmacogenetics may help individualize drug therapy in patients with RA by providing reliable biomarkers to predict medication toxicity and efficacy.

Undiagnosed sarcoidosis presenting as acute pancreatitis: a rare presentation of a known disease.

A 43-year-old African American man presented with right upper quadrant pain and elevated blood pressure. Investigations revealed elevated lipase, hypercalcaemia and elevated creatinine. CT abdomen with contrast revealed extensive intraabdominal lymphadenopathy with an initial suspicion for a lymphoproliferative malignancy. Patient was managed for acute pancreatitis, with further workup of hypercalcaemia revealing an elevated ACE level. Inguinal lymph node biopsy confirmed a non-caseating granuloma leading to the diagnosis of sarcoidosis.

Hepatocellular Glycogen Accumulation in the Setting of Poorly Controlled Type 1 Diabetes Mellitus: Case Report and Review of the Literature.

Glycogenic hepatopathy (GH) is the accumulation of glycogen in the hepatocytes and represents a rare complication in patients with diabetes mellitus (DM), most commonly type 1 DM. We present a case of a 23-year-old woman with a medical history of poorly controlled type 1 DM and gastroesophageal reflux disease (GERD) who presented with progressively worsening right-sided abdominal pain. Diagnostic workup resulted in a liver biopsy with hepatocytes that stained heavily for glycogen with no evidence of fibrosis or steatohepatitis. A diagnosis of glycogenic hepatopathy was made, and an aggressive glucose control regimen was implemented leading to resolution of symptoms and improvement in AST, ALT, and ALP. In addition to presenting this rare case, we offer a review of literature and draw important distinctions between glycogenic hepatopathy and other differential diagnoses with the aim of assisting providers in the diagnostic workup and treatment of glycogenic hepatopathy.