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Experimental and Clinical Endocrinology... Feb 2019Addison's disease - the traditional term for primary adrenal insufficiency (PAI) - is defined as the clinical manifestation of chronic glucocorticoid- and/or... (Review)
Review
Addison's disease - the traditional term for primary adrenal insufficiency (PAI) - is defined as the clinical manifestation of chronic glucocorticoid- and/or mineralocorticoid deficiency due to failure of the adrenal cortex which may result in an adrenal crisis with potentially life-threatening consequences. Even though efficient and safe pharmaceutical preparations for the substitution of endogenous gluco- and mineralocorticoids are established in therapy, the mortality in patients with PAI is still increased and the health-related quality of life (HRQoL) is often reduced.PAI is a rare disease but recent data report an increasing prevalence. In addition to the common "classical" causes of PAI like autoimmune, infectious, neoplastic and genetic disorders, other iatrogenic conditions - mostly pharmacological side effects (e. g., adrenal haemorrhage associated with anticoagulants, drugs affecting glucocorticoid synthesis, action or metabolism and some of the novel anti-cancer checkpoint inhibitors) are contributing factors to this phenomenon.Due to the rarity of the disease and often non-specific symptoms at least in the early stages, PAI is frequently not considered resulting in a delayed diagnosis. Successful therapy is mainly based on adequate patient education as a cornerstone in the prevention and management of adrenal crisis. A focus of current research is in the development of pharmacokinetically optimized glucocorticoid preparations as well as regenerative therapies.
Topics: Addison Disease; Humans
PubMed: 30562824
DOI: 10.1055/a-0804-2715 -
International Journal of General... 2023We aim to overview Addison's disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English... (Review)
Review
We aim to overview Addison's disease (AD) with regard to current diagnosis and management. This is a narrative review of full-length articles published in English between January 2022 and December 2022 (including online ahead of print versions) in PubMed-indexed journals. We included original studies in living humans regardless of the level of statistical significance starting from the key search terms "Addison's disease" or "primary adrenal insufficiency" in title or abstract. We excluded articles with secondary adrenal insufficiency. Briefly, 199 and 355 papers, respectively were identified; we manually checked each of them, excluded the duplicates, and then selected 129 based on their clinical relevance in order to address our 1-year analysis. We organized the data in different subsections covering all published aspects on the subject of AD. To our knowledge, this is the largest AD retrospective from 2022 on published data. A massive role of genetic diagnosis especially in pediatric cases is highlighted; the importance of both pediatric and adult awareness remains since unusual presentations continue to be described. COVID-19 infection is a strong player amid this third year of pandemic although we still not do have large cohorts in this particular matter as seen, for instance, in thyroid anomalies. In our opinion, the most important topic for research is immune checkpoint inhibitors, which cause a large panel of endocrine side effects, AD being one of them.
PubMed: 37287503
DOI: 10.2147/IJGM.S390793 -
Canine Medicine and Genetics May 2022Hypoadrenocorticism is characterized by a reduction in mineralocorticoid and/or glucocorticoid production by the adrenal glands. Several subtypes have been described... (Review)
Review
Hypoadrenocorticism is characterized by a reduction in mineralocorticoid and/or glucocorticoid production by the adrenal glands. Several subtypes have been described with different clinical and clinicopathological consequences. Most affected dogs have vague and non-specific signs that precede an eventual life-threatening crisis. This review aims to appraise classification, the available data on epidemiology and the clinical and laboratory features of naturally occurring canine hypoadrenocorticism.
PubMed: 35505424
DOI: 10.1186/s40575-022-00119-4 -
Veterinary Medicine (Auckland, N.Z.) 2018Hypoadrenocorticism (HOAC; Addison's disease) is an endocrine condition seen in small animal practice. Dogs with this disease can present in a variety of ways from acute... (Review)
Review
Hypoadrenocorticism (HOAC; Addison's disease) is an endocrine condition seen in small animal practice. Dogs with this disease can present in a variety of ways from acute hypovolemic collapse to vague, chronic, waxing, and waning clinical signs. In the most common form of this disease, animals have both mineralocorticoid and glucocorticoid deficiency, resulting in hyponatremia and hyperkalemia, and signs of cortisol deficiency. The etiology may be immune-mediated destruction of the adrenal cortex, drug-induced adrenocortical necrosis (mitotane), enzyme inhibition (trilostane), or infiltrative processes such as neoplastic or fungal disease. Much less commonly, dogs have signs of cortisol deficiency, but no electrolyte changes. This is referred to as atypical HOAC. The veterinarian needs to have a clinical suspicion for HOAC to make a diagnosis in a timely manner. Treatment of dogs with an acute presentation prioritizes correcting the hypovolemia, hyperkalemia, acidosis, and hypoglycemia. Fluid therapy addresses most of these issues, but other directed therapies may be required in the most severe cases. For chronic management, all patients with Addison's disease will require replacement of glucocorticoids (usually prednisone), and most patients require replacement of mineralocorticoids with either desoxycorticosterone pivalate or fludrocortisone. Atypical Addisonians do not require mineralocorticoid supplementation, but electrolytes should be monitored in case the need arises in the future. The prognosis for dogs treated for HOAC promptly and appropriately is excellent; most patients die from other diseases. However, if the diagnosis is missed, patients may die as a consequence of HOAC. Thus, knowledge of the hallmarks of Addison's disease is imperative.
PubMed: 30050862
DOI: 10.2147/VMRR.S125617 -
Clinical Endocrinology Jan 2020Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are... (Review)
Review
Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires urgent diagnosis and treatment. Whilst the most common causes are congenital adrenal hyperplasia (CAH) in childhood and autoimmune adrenal insufficiency in adolescence and adulthood, more than 30 other physical and genetics cause of PAI have been reported. Reaching a specific diagnosis can have implications for management and for monitoring associated features, as well as for counselling families about recurrence risk in siblings and relatives. Here, we describe some recent insights into the genetics of adrenal insufficiency and associated molecular mechanisms. We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome) and SAMD9 (MIRAGE syndrome), or loss of POLE1; (c) nonclassic forms of STAR and P450scc/CYP11A1 insufficiency that present with a delayed-onset adrenal phenotype and represent a surprisingly prevalent cause of undiagnosed PAI; and (d) a new sphingolipidosis causing PAI due to defects in sphingosine-1-phosphate lyase-1 (SGPL1). Reaching a specific diagnosis can have life-long implications for management. In some situations, milder or nonclassic forms of these conditions can first present in adulthood and may have been labelled, "Addison's disease."
Topics: Addison Disease; Humans
PubMed: 31610036
DOI: 10.1111/cen.14109 -
Endocrine Reviews Feb 2019Immune checkpoints are small molecules expressed by immune cells that play critical roles in maintaining immune homeostasis. Targeting the immune checkpoints cytotoxic... (Review)
Review
Immune checkpoints are small molecules expressed by immune cells that play critical roles in maintaining immune homeostasis. Targeting the immune checkpoints cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) and programmed death 1 (PD-1) with inhibitory antibodies has demonstrated effective and durable antitumor activity in subgroups of patients with cancer. The US Food and Drug Administration has approved several immune checkpoint inhibitors (ICPis) for the treatment of a broad spectrum of malignancies. Endocrinopathies have emerged as one of the most common immune-related adverse events (irAEs) of ICPi therapy. Hypophysitis, thyroid dysfunction, insulin-deficient diabetes mellitus, and primary adrenal insufficiency have been reported as irAEs due to ICPi therapy. Hypophysitis is particularly associated with anti-CTLA-4 therapy, whereas thyroid dysfunction is particularly associated with anti-PD-1 therapy. Diabetes mellitus and primary adrenal insufficiency are rare endocrine toxicities associated with ICPi therapy but can be life-threatening if not promptly recognized and treated. Notably, combination anti-CTLA-4 and anti-PD-1 therapy is associated with the highest incidence of ICPi-related endocrinopathies. The precise mechanisms underlying these endocrine irAEs remain to be elucidated. Most ICPi-related endocrinopathies occur within 12 weeks after the initiation of ICPi therapy, but several have been reported to develop several months to years after ICPi initiation. Some ICPi-related endocrinopathies may resolve spontaneously, but others, such as central adrenal insufficiency and primary hypothyroidism, appear to be persistent in most cases. The mainstay of management of ICPi-related endocrinopathies is hormone replacement and symptom control. Further studies are needed to determine (i) whether high-dose corticosteroids in the treatment of ICPi-related endocrinopathies preserves endocrine function (especially in hypophysitis), and (ii) whether the development of ICPi-related endocrinopathies correlates with tumor response to ICPi therapy.
Topics: Addison Disease; Antineoplastic Agents, Immunological; CTLA-4 Antigen; Diabetes Mellitus, Type 1; Humans; Hypophysitis; Immunotherapy; Neoplasms; Programmed Cell Death 1 Receptor; Thyroid Diseases
PubMed: 30184160
DOI: 10.1210/er.2018-00006 -
Therapeutic Advances in Endocrinology... 2019Adrenal crisis is an acute life-threatening emergency contributing to the excess mortality that is reported in patients with adrenal insufficiency. The incidence of... (Review)
Review
Adrenal crisis is an acute life-threatening emergency contributing to the excess mortality that is reported in patients with adrenal insufficiency. The incidence of adrenal crisis is estimated to be 8 per 100 patient years in patients with adrenal insufficiency. Patients with adrenal crisis present systemically unwell with nonspecific signs and symptoms often leading to misdiagnosis and delayed treatment. An adrenal crisis may be the first presentation of adrenal insufficiency or can occur in patients who have been established on glucocorticoid replacement therapy. Infections are the major precipitating factor, but other causes include physical stress such as a surgical procedure or trauma, forgetting or discontinuing glucocorticoid therapy, pronounced physical activity, and psychological stress. The emergency treatment involves prompt recognition and administration of parenteral hydrocortisone, rehydration and management of electrolyte abnormalities. Prevention is centred around patient education. All patients should be educated on stress dosing and parenteral glucocorticoid administration. They should carry a steroid dependency alert card and wear a medical alert bracelet or similar identification. Despite many improvements in the management of patients with adrenal insufficiency, adrenal crisis continues to occur and represents a major source of morbidity, mortality and distress for patients. Improved patient and clinician education and measures to facilitate parenteral hydrocortisone self-administration in impending crisis are central to the management of this life-threatening event.
PubMed: 31223468
DOI: 10.1177/2042018819848218