- GeneReviews® [BOOK]
- BOOKUniversity of Washington, Seattle: Seattle (WA)
- X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most comm...
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and the adrenal cortex. Three main phenotypes are seen in affected males: The childhood cerebral form manifests most commonly between ages four and eight years. It initially resembles attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. Most individuals have impaired adrenocortical function at the time that neurologic disturbances are first noted. Adrenomyeloneuropathy (AMN) manifests most commonly in an individual in his twenties or middle age as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades. "Addison disease only" presents with primary adrenocortical insufficiency between age two years and adulthood and most commonly by age 7.5 years, without evidence of neurologic abnormality; however, some degree of neurologic disability (most commonly AMN) usually develops by middle age. More than 20% of female carriers develop mild-to-moderate spastic paraparesis in middle age or later. Adrenal function is usually normal.
- Chronic primary adrenal insufficiency after unilateral adrenonephrectomy: A case report. [Case Reports]
- MMedicine (Baltimore) 2017; 96(51):e9091
- CONCLUSIONS: Clinicians must be aware of chronic adrenal insufficiency as a possible complication of unilateral adrenalectomy, especially when patients who underwent unilateral adrenalectomy experience severe adrenal stress.
- Longitudinal AddiQoL scores may identify higher risk for adrenal crises in Addison's disease. [Journal Article]
- EEndocrine 2018 Jan 31
- CONCLUSIONS: These are the first data showing the course of QoL during a period of ten months in patients with AD. Incidence of AC exceeds previous data. Our data show, that subjective precrises in AD associate with lower QoL. AC, as well as precrises affect intraindividual AddiQol-scores over time with a trend to a stronger fluctuation. Longitudinal AddiQol scores and self-reporting of precrises via patient diaries are additional clinical tools to identify higher risk for critical events.
- Idiopathic intracranial hypertension as a presenting sign of adrenal insufficiency. [Journal Article]
- SOSAGE Open Med Case Rep 2018; 6:2050313X17753787
- Idiopathic intracranial hypertension is a diagnosis of exclusion defined by elevated intracranial pressure without mass lesions or hydrocephalus. Causes of idiopathic intracranial hypertension includ...
Idiopathic intracranial hypertension is a diagnosis of exclusion defined by elevated intracranial pressure without mass lesions or hydrocephalus. Causes of idiopathic intracranial hypertension include obesity, vitamin derangements, antibiotics, corticosteroids, and autoimmune disorders. Cushing's disease and Addison's disease have been associated with idiopathic intracranial hypertension. Secondary adrenal insufficiency following withdrawal of inhaled corticosteroids has been found to be a relatively common phenomenon. This case describes an 11-year-old boy who was previously on inhaled corticosteroids for severe asthma who presented with secondary adrenal insufficiency after withdrawal of steroids. The adrenal insufficiency presented as idiopathic intracranial hypertension. We described the hospital course and process of diagnosis for this child with secondary adrenal insufficiency following withdrawal of inhaled corticosteroids. The association between the discontinuation of this patient's corticosteroids and his onset of headache suggests secondary adrenal insufficiency as the most likely cause of his idiopathic intracranial hypertension. The gradual improvement in his symptoms after steroid replacement further supports this. Due to the significant prevalence of children using inhaled corticosteroids, it is important for clinicians to be aware of the potential for the withdrawal of these drugs to induce hypothalamic-pituitary-adrenal axis suppression.
- Consider Addison's disease in differential diagnosis of eating disorders in children and young people. [Letter]
- BMJBMJ 2018 01 26; 360:k277
- The Schmidt Syndrome. [Journal Article]
- ABActa Biomed 2018 Jan 16; 88(4):499-501
- Addison's disease (AD) is a rare endocrine condition related to adrenal insufficiency. Autoimmune adrenalitis is commonly associated with autoimmune diseases. Autoimmune Addison's Disease (AAD) descr...
Addison's disease (AD) is a rare endocrine condition related to adrenal insufficiency. Autoimmune adrenalitis is commonly associated with autoimmune diseases. Autoimmune Addison's Disease (AAD) describes Autoimmune Polyendocrine Syndrome (APS) in 60% of patients with an important immunitary pathogenesis imprinting. We describes a case of Autoimmune Polyendocrine Syndrome charachterize by adrenal insufficiency and thyroid disease (Schmidt Syndrome). In this case report, Addison's disease had a slow onset in absence of the typical weight loss. In our considerations this is due to the concomitant hypothyroidism that masked some typical signs and also limited acute presentation.
- Relationship between sedentary behavior and depression: A mediation analysis of influential factors across the lifespan among 42,469 people in low- and middle-income countries. [Journal Article]
- JAJ Affect Disord 2018 Mar 15; 229:231-238
- CONCLUSIONS: People with depression are at increased risk of engaging in high levels of SB. This first multi-national study offers potentially valuable insight for a number of hypotheses which may influence this relationship, although testing with longitudinal studies is needed.
- Diagnosis and Treatment of Chronic Fatigue Syndrome/Myalgic Encephalopathy (CFS/ME) [BOOK]
- BOOKKnowledge Centre for the Health Services at The Norwegian Institute of Public Health (NIPH): Oslo, Norway
- Aim: To assess and synthesize the evidence base for diagnosing and treating chronic fatigue syndrome/myalgic encephalopathy (CFS/ME).Methods:The overview of the scientific knowledge i...
Aim: To assess and synthesize the evidence base for diagnosing and treating chronic fatigue syndrome/myalgic encephalopathy (CFS/ME).Methods:The overview of the scientific knowledge is based on systematic reviews and a search of recent primary and qualitative studies. The assessment was done stepwise, starting with 1168 abstracts and ending with 6 systematic reviews, 5569 abstracts of RCTs/CCTs and ending with 4 RCTs on adults and 3 RCTs on children/adolescents. We identified 807 qualitative studies and included 18. Level of documentation was based on GRADE. A review team performed the assessment, with input from 2 patient organizations. The literature was searched via the Cochrane Database of Systematic Reviews, DARE, MEDLINE, EMBASE, PsycINFO, and AMED. Patients with CFS, ME, postviral fatigue syndrome, and chronic fatigue and immunodysfunctional syndrome were included. Interventions included any kind of treatment for CFS/ME. All outcomes were considered, and fatigue, physical and mental health, and quality of life are reported.Results:Diagnosis:The recommendations for diagnosis are based on guidelines for clinical diagnosis of CFS/ME published by British, Australian, Canadian, and other groups. Patient history includes extreme fatigue lasting at least 6 months triggered by disproportional demands, and is unpredictable, does not improve by rest, or is worsened by physical or mental effort. Other symptoms are,e.g., sore throat, swollen lymph nodes, painful joints and muscles, headache, and sleeping problems. Comorbidities may include fibromyalgia or irritable bowel syndrome. The course varies. Differential diagnoses,e.g., metabolic diseases, diabetes, coeliac disease, cancer, bipolar or depressive conditions, neurological disease, and Addison's disease must be ruled out. No diagnostic test can verify the diagnosis, nor point to the best treatment.Treatment:Cognitive behavioral therapy, graded exercise therapy, pharmacological treatment, immunological treatment, supplements and alternative/complementary treatment. Documentation is low or very low for most outcomes:Cognitive behavioral therapy suggests improved physical function and quality of life, but it is uncertain if the treatment influences mental health. Graded exercise therapy suggests reduced fatigue, but effects on depression or quality of life are not documented. Dropout was high, especially with high-intensity exercise. No evidence recommends pharmacological treatment unless there is relevant comorbidity. Immune modulating treatment has uncertain effects, but could have serious adverse effects. Effects of supplements and alternative/complementary medicine are uncertain. Few studies investigated the effects of treatment in children and adolescents. No studies investigated the effects of treatment in the severely ill or disabled.Further research/reviews required:Studies on better treatment for severely ill or disabled sufferers are insufficient. Evidence on children and adolescents is scarce, and for adults the level of documentation is low or very low. Diagnostic criteria vary by study, making comparisons difficult. Empirical studies on treatment experiences are missing. CFS/ME symptoms are subjective. Qualitative studies show that patients feel stigmatized and mistrusted, and doctors find it challenging to diagnose and treat CFS/ME. The prevalence, prognosis, and cause of CFS/ME remain unclear. More research is needed.
- Autoimmune polyendocrine syndrome type 2 in patient with severe allergic asthma treated with omalizumab. [Journal Article]
- JAJ Asthma 2018 Jan 04; :1-3
- Asthma therapy with monoclonal antibodies is a promising and effective approach for those with a severe and refractory type of disease. Although such a targeted therapy is considered to be safe, unus...
Asthma therapy with monoclonal antibodies is a promising and effective approach for those with a severe and refractory type of disease. Although such a targeted therapy is considered to be safe, unusual complications may occur. We present a case of a 45 year-old female patient with severe allergic asthma and chronic spontaneous urticaria, who developed autoimmune polyendocrine syndrome type 2 (APS-2) after 26 months of omalizumab administration. The patient was diagnosed with primary adrenal insufficiency (Addison's disease) and Hashimoto's thyroiditis accompanied by autoimmune atrophic gastritis. According to our knowledge this is the first description of APS-2 that developed in conjunction with omalizumab treatment, although we have no evidence that the observed phenomenon indicated a cause-effect relationship to omalizumab.
New Search Next
- Addison disease and normocalcemic primary hyperparathyroidism in a dog with multiple endocrine neoplasia. [Journal Article]
- OVOpen Vet J 2017; 7(4):332-336
- A 12-year old dog with a 9-year history of primary adrenal insufficiency was referred to the service for hyporexia, muscle weakness, polyuria and polydipsia. Ultrasound examination showed an unresect...
A 12-year old dog with a 9-year history of primary adrenal insufficiency was referred to the service for hyporexia, muscle weakness, polyuria and polydipsia. Ultrasound examination showed an unresectable mass in the left adrenal gland, with local vascular invasion, which prompted the euthanasia of the animal. Additionally, necropsy revealed a nodular lesion in the right adrenal gland and enlargement of one of the four parathyroid glands. Parathyroid hormone levels were elevated, but ionized and total calcium levels were normal. Histopathology supported the diagnosis of parathyroid chief cell adenoma and bilateral pheochromocytoma. Immunohistochemical staining was positive for synaptophysin, and negative for Melan-A and calretinin, which confirmed the diagnosis of pheochromocytoma. This case highlights an unusual presentation of multiple endocrine neoplasias within the context of primary adrenal insufficiency and normocalcemic primary hyperparathyroidism.