Primers in 2020

Autoimmune gastritis (AIG) is a chronic, autoimmune disease characterized by atrophy of the oxyntic glands of the stomach. In this Primer, Di Sabatino and colleagues discuss the epidemiology, novel insights in AIG pathogenesis, diagnostic challenges and current therapeutic options.

Graves’ disease is an autoimmune disease caused by autoantibodies to the thyroid-stimulating hormone receptor, causing hyperthyroidism. In this Primer, Davies and colleagues discuss the epidemiology, pathophysiology and diagnosis of Graves’ disease and highlight the need for better therapeutics for its management.

HIV and antiretroviral therapy-related fat alterations are frequent in people living with HIV and include fat loss, fat gain and obesity. This Primer discusses the changing epidemiology, mechanisms, diagnosis and treatment of these alterations.

Corneal dystrophies are bilateral, progressive inherited disorders affecting any part of the cornea. In this Primer, the authors review the different types of corneal dystrophy, their epidemiology, diagnosis and treatment, and discuss novel treatments that are in development.

Whipworm and roundworm infections are neglected tropical diseases caused by the gastrointestinal nematode parasites Trichuris trichiura and Ascaris lumbricoides, respectively. These soil-transmitted helminths are prevalent in tropical areas and affect hundreds of millions of people, with substantial morbidity and disease burden.

This Primer by Umpierrez and colleagues reviews the epidemiology, pathophysiology, diagnosis and management of diabetic ketoacidosis, the most common acute hyperglycaemic emergency in people with diabetes mellitus. Additionally, the authors also discuss different strategies that can be implemented to prevent recurrent diabetic ketoacidosis episodes.

Checkpoint inhibitors are increasingly being used in clinical practice; however, these therapies can be associated with adverse events that can affect almost any organ system. This Primer by Ramos-Casals and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of these adverse events.

This Primer by Bergeron and colleagues summarizes the epidemiology, mechanisms, diagnosis and treatment of vulvodynia, a condition that is characterized by pain in the vulva.

Uveal melanoma (UM) is the most common primary intraocular malignancy in adults. This Primer describes the clinical and biological features of primary UM, and highlights how therapies to prevent and treat the (currently) deadly metastases are urgently needed.

Crohn’s disease is a progressive, destructive inflammatory bowel disease of unclear cause and involves chronic inflammation of any part of the gastrointestinal tract. This Primer reviews the epidemiology, pathophysiology, diagnosis and management of this disease.

Colonic diverticular disease, characterized by sac-like protrusions on the wall of the large intestine, is one of the most common conditions detected on colonoscopy in the adult population. This Primer by Tursi and colleagues reviews the epidemiology, pathophysiology, diagnosis and management of this disease.

Hidradenitis suppurativa is a debilitating chronic inflammatory disorder affecting the intertriginous skin characterized by localized skin lesions associated with numerous systemic comorbidities. The current health care of patients signals an enormous need for awareness and novel treatments. In this Primer, Sabat and colleagues review the epidemiology, pathophysiology, diagnosis and the various approaches for the management of this complex disease.

Acute heart failure (AHF) is a syndrome characterized by signs and symptoms of heart failure (typically systemic congestion) that occurs in the presence of an underlying cardiac dysfunction (previously diagnosed, undiagnosed or new-onset) and precipitating factors. AHF is associated with high mortality and hospital readmission rates.

Ebola virus disease (EVD) is caused by the filovirus Ebola virus (EBOV). Although the natural host of EBOV is undefined, a single zoonotic transmission is the probable start of most EVD outbreaks. EVD is characterized by gastrointestinal manifestations and multiple organ dysfunction syndrome and has a high case–fatality rate.

Burn injuries, particularly severe burns, are accompanied by a metabolic, immune and inflammatory response that can be challenging to manage, often leading to multiple organ failure or even death. This Primer discusses aspects of burn injury, from prevention to care of patients from both an acute and a long-term perspective.

Down syndrome (DS) is a genetic disorder caused by trisomy 21, the presence of a supernumerary chromosome 21, which results in physical and neurocognitive alterations. This Primer reviews the epidemiology of DS, the steadily increasing insights into its pathogenesis and how these are translating into improved treatments.

Lupus nephritis is an inflammation of the kidneys caused by the autoimmune disease systemic lupus erythematosus. This Primer reviews the epidemiology of lupus nephritis, its pathogenesis and advances in its treatment.

Autism spectrum disorder — or autism — is a neurodevelopmental disorder that typically manifests in young children. This Primer by Lord and colleagues reviews the epidemiology, mechanisms, clinical detection and treatment of autism.

The ongoing epidemic of opioid use disorder includes, in addition to increasing global use of illicitly manufactured heroin and other opioids, a public health crisis aggravated by the over-prescribing of opioid pain medications, in North America particularly. This Primer by Strang, Volkow and colleagues discusses the risk factors of opioid use disorder, together with its epidemiology, mechanisms, diagnosis and treatment.

Gastrointestinal pain is common in some disorders, such as Crohn’s disease and pancreatitis. This Primer discusses the challenges in identifying the causes, particularly in patients in which multiple aetiologies coexist, as well as the treatment options.