-
Experimental Eye Research Mar 2021There is a number of systemic diseases affecting the cornea. These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism),... (Review)
Review
There is a number of systemic diseases affecting the cornea. These include endocrine disorders (diabetes, Graves' disease, Addison's disease, hyperparathyroidism), infections with viruses (SARS-CoV-2, herpes simplex, varicella zoster, HTLV-1, Epstein-Barr virus) and bacteria (tuberculosis, syphilis and Pseudomonas aeruginosa), autoimmune and inflammatory diseases (rheumatoid arthritis, Sjögren's syndrome, lupus erythematosus, gout, atopic and vernal keratoconjunctivitis, multiple sclerosis, granulomatosis with polyangiitis, sarcoidosis, Cogan's syndrome, immunobullous diseases), corneal deposit disorders (Wilson's disease, cystinosis, Fabry disease, Meretoja's syndrome, mucopolysaccharidosis, hyperlipoproteinemia), and genetic disorders (aniridia, Ehlers-Danlos syndromes, Marfan syndrome). Corneal manifestations often provide an insight to underlying systemic diseases and can act as the first indicator of an undiagnosed systemic condition. Routine eye exams can bring attention to potentially life-threatening illnesses. In this review, we provide a fairly detailed overview of the pathologic changes in the cornea described in various systemic diseases and also discuss underlying molecular mechanisms, as well as current and emerging treatments.
Topics: Autoimmune Diseases; COVID-19; Comorbidity; Cornea; Humans; SARS-CoV-2
PubMed: 33485845
DOI: 10.1016/j.exer.2021.108455 -
Lakartidningen Jan 2022
Topics: Addison Disease; Humans
PubMed: 35019146
DOI: No ID Found -
Clinical Medicine (London, England) Mar 2021Use of immune checkpoint inhibitors in cancer treatment has increased vastly over the past decade, as both single and combination agent therapies. While having a... (Review)
Review
Use of immune checkpoint inhibitors in cancer treatment has increased vastly over the past decade, as both single and combination agent therapies. While having a positive impact on survival rates, adverse effects have been noted, with endocrine effects in around 10% of patients. Thyroid disease and hypophysitis are the most commonly encountered, with diabetes mellitus and primary adrenal insufficiency also reported, as well as more rare endocrinopathies. Patient and clinician education to raise awareness of these effects, as well as regular monitoring to enable early recognition, diagnosis and prompt treatment of the immune side effects, are key. In this review, we discuss the aetiology, presentation and management of the endocrine complications of immunotherapies that are relevant to the general physician, as well as highlighting important areas where further research is still needed.
Topics: Addison Disease; Drug-Related Side Effects and Adverse Reactions; Endocrine System Diseases; Humans; Hypophysitis; Immunotherapy; Neoplasms; Thyroid Diseases
PubMed: 33762389
DOI: 10.7861/clinmed.2020-0827 -
Frontiers in Endocrinology 2023X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters... (Review)
Review
X-linked adrenoleukodystrophy (X-ALD; OMIM:300100) is a progressive neurodegenerative disorder caused by a congenital defect in the ATP-binding cassette transporters sub-family D member 1 gene (ABCD1) producing adrenoleukodystrophy protein (ALDP). According to population studies, X-ALD has an estimated birth prevalence of 1 in 17.000 subjects (considering both hemizygous males and heterozygous females), and there is no evidence that this prevalence varies among regions or ethnic groups. ALDP deficiency results in a defective peroxisomal β-oxidation of very long chain fatty acids (VLCFA). As a consequence of this metabolic abnormality, VLCFAs accumulate in nervous system (brain white matter and spinal cord), testis and adrenal cortex. All X-ALD affected patients carry a mutation on the ABCD1 gene. Nevertheless, patients with a defect on the ABCD1 gene can have a dramatic difference in the clinical presentation of the disease. In fact, X-ALD can vary from the most severe cerebral paediatric form (CerALD), to adult adrenomyeloneuropathy (AMN), Addison-only and asymptomatic forms. Primary adrenal insufficiency (PAI) is one of the main features of X-ALD, with a prevalence of 70% in ALD/AMN patients and 5% in female carriers. The pathogenesis of X-ALD related PAI is still unclear, even if a few published data suggests a defective adrenal response to ACTH, related to VLCFA accumulation with progressive disruption of adrenal cell membrane function and ACTH receptor activity. The reason why PAI develops only in a proportion of ALD/AMN patients remains incompletely understood. A growing consensus supports VLCFA assessment in all male children presenting with PAI, as early diagnosis and start of therapy may be essential for X-ALD patients. Children and adults with PAI require individualized glucocorticoid replacement therapy, while mineralocorticoid therapy is needed only in a few cases after consideration of hormonal and electrolytes status. Novel approaches, such as prolonged release glucocorticoids, offer potential benefit in optimizing hormonal replacement for X-ALD-related PAI. Although the association between PAI and X-ALD has been observed in clinical practice, the underlying mechanisms remain poorly understood. This paper aims to explore the multifaceted relationship between PAI and X-ALD, shedding light on shared pathophysiology, clinical manifestations, and potential therapeutic interventions.
Topics: Adult; Humans; Male; Female; Child; Adrenoleukodystrophy; ATP-Binding Cassette Transporters; Addison Disease; Fatty Acids; Adrenal Cortex; Glucocorticoids
PubMed: 38034003
DOI: 10.3389/fendo.2023.1309053 -
Praxis Sep 2022Just Anorexia? We report the case of a 30-year-old woman presenting with fatigue, loss of weight, nausea, emesis and hyponatremia. The evaluation proved Addison's...
Just Anorexia? We report the case of a 30-year-old woman presenting with fatigue, loss of weight, nausea, emesis and hyponatremia. The evaluation proved Addison's disease due to an autoimmune polyendocrine syndrome type 2 with Hashimoto thyreoiditis. Under substitution with hydrocortisone and fludrocortisone all the symptoms subsided completely.
Topics: Addison Disease; Adult; Anorexia; Female; Humans; Hydrocortisone; Hyponatremia; Polyendocrinopathies, Autoimmune
PubMed: 36102024
DOI: 10.1024/1661-8157/a003899 -
The New England Journal of Medicine Jun 2021
Topics: Addison Disease; Adult; Female; Humans; Hydrocortisone; Pigmentation Disorders; Tongue; Tongue Diseases
PubMed: 34161701
DOI: 10.1056/NEJMicm2100706 -
The Medico-legal Journal Sep 2022In 1877 Harriet Staunton died in Penge, Kent, and four members of her family were convicted of her murder by malicious starvation. The defence attempted to show that she...
In 1877 Harriet Staunton died in Penge, Kent, and four members of her family were convicted of her murder by malicious starvation. The defence attempted to show that she had died from tuberculous meningitis, but reappraisal of the evidence leads to the conclusion that she died from tuberculous Addison's disease and that the defendants were wrongly convicted.
Topics: Addison Disease; Female; Humans; Tuberculosis, Endocrine
PubMed: 35695252
DOI: 10.1177/00258172221096635