-
Frontiers in Endocrinology 2022Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia...
BACKGROUND
Hypoglycemia is uncommon in people who are not being treated for diabetes mellitus and, when present, the differential diagnosis is broad. Artifactual hypoglycemia describes discrepancy between low capillary and normal plasma glucose levels regardless of symptoms and should be considered in patients with Raynaud's phenomenon.
CASE PRESENTATION
A 46-year-old female patient with a history of a sleeve gastrectomy started complaining about episodes of lipothymias preceded by sweating, nausea, and dizziness. During one of these episodes, a capillary blood glucose was obtained with a value of 24 mg/dl. She had multiple emergency admissions with low-capillary glycemia. An exhaustive investigation for possible causes of hypoglycemia was made for 18 months. The 72h fasting test was negative for hypoglycemia. A Raynaud's phenomenon was identified during one appointment.
CONCLUSION
Artifactual hypoglycemia has been described in various conditions including Raynaud's phenomenon, peripheral arterial disease, Eisenmenger syndrome, acrocyanosis, or hypothermia. With this case report, we want to reinforce the importance of being aware of this diagnosis to prevent anxiety, unnecessary treatment, and diagnostic tests.
Topics: Awareness; Blood Glucose; Diabetes Mellitus; Female; Humans; Hypoglycemia; Memory Disorders; Middle Aged
PubMed: 35966055
DOI: 10.3389/fendo.2022.951377 -
Blood Sep 2022Sutimlimab, a first-in-class humanized immunoglobulin G4 (IgG4) monoclonal antibody that selectively inhibits the classical complement pathway at C1s, rapidly halted... (Randomized Controlled Trial)
Randomized Controlled Trial
Sutimlimab, a first-in-class humanized immunoglobulin G4 (IgG4) monoclonal antibody that selectively inhibits the classical complement pathway at C1s, rapidly halted hemolysis in the single-arm CARDINAL study in recently transfused patients with cold agglutinin disease (CAD). CADENZA was a 26-week randomized, placebo-controlled phase 3 study to assess safety and efficacy of sutimlimab in patients with CAD without recent (within 6 months prior to enrollment) transfusion history. Forty-two patients with screening hemoglobin ≤10 g/dL, elevated bilirubin, and ≥1 CAD symptom received sutimlimab (n = 22) or placebo (n = 20) on days 0 and 7 and then biweekly. Composite primary endpoint criteria (hemoglobin increase ≥1.5 g/dL at treatment assessment timepoint [mean of weeks 23, 25, 26], avoidance of transfusion, and study-prohibited CAD therapy [weeks 5-26]) were met by 16 patients (73%) on sutimlimab, and 3 patients (15%) on placebo (odds ratio, 15.9 [95% confidence interval, 2.9, 88.0; P < .001]). Sutimlimab, but not placebo, significantly increased mean hemoglobin and FACIT-Fatigue scores at treatment assessment timepoint. Sutimlimab normalized mean bilirubin by week 1. Improvements correlated with near-complete inhibition of the classical complement pathway (2.3% mean activity at week 1) and C4 normalization. Twenty-one (96%) sutimlimab patients and 20 (100%) placebo patients experienced ≥1 treatment-emergent adverse event. Headache, hypertension, rhinitis, Raynaud phenomenon, and acrocyanosis were more frequent with sutimlimab vs placebo, with a difference of ≥3 patients between groups. Three sutimlimab patients discontinued owing to adverse events; no placebo patients discontinued. These data demonstrate that sutimlimab has potential to be an important advancement in the treatment of CAD. This trial was registered at www.clinicaltrials.gov as #NCT03347422.
Topics: Anemia, Hemolytic, Autoimmune; Antibodies, Monoclonal, Humanized; Bilirubin; Double-Blind Method; Hemoglobins; Humans; Treatment Outcome
PubMed: 35687757
DOI: 10.1182/blood.2021014955 -
BMC Rheumatology May 2022POEMS syndrome is a rare paraneoplastic syndrome caused by plasma cell disorder almost always lambda restricted. Secondary Raynaud's phenomenon is an overlooked skin...
Raynaud's phenomenon and positive antinuclear antibodies as first manifestation of POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes): a case report.
BACKGROUND
POEMS syndrome is a rare paraneoplastic syndrome caused by plasma cell disorder almost always lambda restricted. Secondary Raynaud's phenomenon is an overlooked skin manifestation of the disease even though it is present in twenty percent of patients. On POEMS syndrome have not been described positive antinuclear antibodies (ANA) and this could lead to a misdiagnosis of autoimmune disease, mainly systemic sclerosis.
CASE PRESENTATION
A 47-year-old man presented with color changes on fingertips consistent with biphasic Raynaud's phenomenon; an antinuclear antibody test was positive (at 1:320 titers in a speckled pattern) with normal nailfold capillaroscopy. Clinical features of systemic sclerosis were absent. Twenty-four months later, the patient presented symmetric sensorimotor demyelinating polyneuropathy, and he was diagnosed with Guillain-Barre syndrome; treatment with intravenous gammaglobulin had an incomplete response. Raynaud's phenomenon persisted associated with acrocyanosis, white nails, and positive ANA (1:1280 in a nucleolar pattern). POEMS syndrome was suspected, and serum protein electrophoresis (SPEP) was done. The SPEP revealed polyclonal gammopathy, and serum immunofixation showed monoclonal (M)-protein (IgG lambda). Serum vascular endothelial growth factor concentration showed increased levels. The patient was diagnosed with POEMS syndrome, and treatment with lenalidomide and dexamethasone improved the Raynaud's phenomenon, acrocyanosis, and white nails, but the neurological response was partial.
CONCLUSIONS
POEMS syndrome may mimic clinical manifestations of systemic sclerosis v.g. Raynaud's phenomenon, skin thickening, telangiectasia, and positive ANA. Raynaud's phenomenon may precede other clinical manifestations of POEMS syndrome by several months. It is necessary to have a high index of suspicion for the diagnosis, especially in patients with peripheral polyneuropathy and monoclonal paraprotein. The significance of positive ANA in this condition is unknown and deserves further investigation.
PubMed: 35585632
DOI: 10.1186/s41927-022-00258-y -
Frontiers in Pediatrics 2022Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children,...
INTRODUCTION
Bier anemic spots, cyanosis, and urticaria-like eruption (BASCULE) syndrome is an underreported pediatric vascular disorder from the group of acrosyndromes. In children, these include paroxysmal acrosyndromes (Raynaud's phenomenon and chilblain-like lesions), permanent acrosyndromes (acrocyanosis), and transient acrosyndromes, in which their pathogeneses are associated with virus infections, Epstein-Barr virus, and, more recently, SARS-CoV-2, respectively.
METHODS
We reported a case of BASCULE syndrome associated with postural orthostatic tachycardia syndrome (POTS) and provided a narrative review of case reports describing the BASCULE syndrome in children. Moreover, we presented the results of a prospective practice survey that we performed in the French medical community.
RESULTS
A 14-years-old boy reported pruritic erythrocyanic lesions on the lower limbs, which occurred whenever he was in a standing position and fully resolved when he laid down. He reported asthenia and cramps. He presented a typical BASCULE syndrome associated with POTS confirmed by a tilt-test. Physical and vascular examinations were within the normal range. We identified 12 case reports, describing 21 pediatric cases since 2016. Most patients were adolescents between 12 and 19 years of age or were newborns. Furthermore, 20% of cases in the literature have presented POTS or orthostatic intolerance. Our survey among 95 French physicians confirmed that BASCULE syndrome is an underdiagnosed and under recognized disease in the general pediatric practice, at least in France. Among these physicians, 65% had already encountered patients with similar symptoms, but only 30% declared that they had knowledge of the BASCULE syndrome.
CONCLUSION
The under-recognition of the clinical manifestations leads the patients to consult emergency rooms, with multiple unnecessary investigations performed. Therefore, we suggest that the diagnosis of BASCULE syndrome is based on clinical observations, without the need for laboratory tests, to avoid unnecessary health costs. We suggest physicians to perform a tilt-test when POTS is suspected.
PubMed: 35463901
DOI: 10.3389/fped.2022.849914 -
Revista Brasileira de Enfermagem 2022to analyze the accuracy of the defining characteristics of hypothermia in patients on hemodialysis.
OBJECTIVE
to analyze the accuracy of the defining characteristics of hypothermia in patients on hemodialysis.
METHODS
a diagnostic accuracy study was assembled within a cross-sectional study with 124 patients from two dialysis centers. A latent class model was used for data analysis.
RESULTS
the nursing diagnosis hypothermia was present in 13 (10.48%) study participants. The most prevalent defining characteristics were hypoxia (100%), decrease in blood glucose level (83.1%), hypertension (65.3%), piloerection (45.2%), and skin cool to touch (41.1%). The defining characteristics acrocyanosis (99.96%) and cyanotic nail beds (99.98%) had a high sensitivity. Acrocyanosis (91.8%), skin cool to touch (64.8%), and peripheral vasoconstriction (91.8%) had high specificity.
CONCLUSION
specific and sensitive indicators of hypothermia work as good clinical indicators for confirming this diagnosis in patients on hemodialysis. The study findings can assist nurses in their clinical reasoning for a correct inference of hypothermia.
Topics: Cold Temperature; Cross-Sectional Studies; Humans; Hypothermia; Nursing Diagnosis; Renal Dialysis
PubMed: 35442311
DOI: 10.1590/0034-7167-2021-0620 -
Journal of the European Academy of... Aug 2022
Topics: Cyanosis; Humans; Raynaud Disease
PubMed: 35429067
DOI: 10.1111/jdv.18120 -
Cold Spring Harbor Molecular Case... Feb 2022Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in (MIM #608451), characterized by global...
Ethylmalonic encephalopathy (MIM #602473) is a rare autosomal recessive metabolic condition caused by biallelic variants in (MIM #608451), characterized by global developmental delay, infantile hypotonia, seizures, and microvascular damage. The microvascular changes result in a pattern of relapsing spontaneous diffuse petechiae and purpura, positional acrocyanosis, and pedal edema, hemorrhagic suffusions of mucous membranes, and chronic diarrhea. Here, we describe an instructive case in which ethylmalonic encephalopathy masqueraded as meningococcal septicemia and shock. Ultrarapid whole-genome testing (time to result 60 h) and prompt biochemical analysis facilitated accurate diagnosis and counseling with rapid implementation of precision treatment for the metabolic crisis related to this condition. This case provides a timely reminder to consider rare genetic diagnoses when atypical features of more common conditions are present, with an early referral to ensure prompt biochemical and genomic diagnosis.
Topics: Brain Diseases, Metabolic, Inborn; Humans; Mitochondrial Proteins; Nucleocytoplasmic Transport Proteins; Purpura; Sepsis
PubMed: 35165146
DOI: 10.1101/mcs.a006193 -
Reviews in Cardiovascular Medicine Jan 2022After reading with great interest the article entitled: "Exploring the impact of the COVID-19 pandemic on provision of cardiology services: a scoping review" redacted by...
After reading with great interest the article entitled: "Exploring the impact of the COVID-19 pandemic on provision of cardiology services: a scoping review" redacted by Farah Yasmin ., published by Reviews in Cardiovascular Medicine, we would like to add the following thoughts. Acute respiratory distress syndrome (ARDS) in Coronavirus disease 2019 (COVID-19) and pulmonary insufficiency reduces blood oxygen saturation and results in hypoxia. Therefore, the determining factor in the survival of patients with COVID-19 is their resistance to hypoxia. At the same time, it is the cardiovascular system that is an important and very sensitive link in the human adaptation to hypoxia. That is why it is necessary to carefully study the relationship between diseases of the heart, blood vessels, the reactivity of the cardiovascular system to hypoxia, and mortality in patients who develop ARDS with COVID-19.
Topics: COVID-19; Cardiology; Cardiovascular System; Humans; Hypoxia; Pandemics; Respiratory Insufficiency; SARS-CoV-2
PubMed: 35092213
DOI: 10.31083/j.rcm2301021 -
Journal of Pediatric Genetics Sep 2023Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental...
Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14-83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy.
PubMed: 37575639
DOI: 10.1055/s-0041-1740370 -
Archivos Argentinos de Pediatria Dec 2021Acrocyanosis triggered by standing position as the main sign of postural orthostatic tachycardia (POTS) is little known but well described in scientific literature. In...
Acrocyanosis triggered by standing position as the main sign of postural orthostatic tachycardia (POTS) is little known but well described in scientific literature. In pediatric age, POTS is defined as orthostatic intolerance that is accompanied by an excessive increase in heart rate without arterial hypotension. We present two clinical reports of teenagers who were admitted in the Emergency Department with acrocyanosis and orthostatic intolerance. The first patient was 13-year-old and had an increase in heart rate of 40 bpm when moving from a reclining to a standing position. The second patient was 14-year-old and showed an increasing in heart rate up to 125 bpm after upright position. In both patients' blood pressure was normal and all investigations were negative. They were finally diagnosed with Acrocianosis como primera manifestación de síndrome de taquicardia postural ortostática en dos adolescentes Acrocyanosis as the first manifestation of orthostatic postural tachycardia syndrome in two adolescents postural orthostatic tachycardia. Recognizing acrocyanosis as first sign of this disease is useful for diagnosis and can help to avoid unnecessary testing.
Topics: Adolescent; Blood Pressure; Child; Heart Rate; Humans; Orthostatic Intolerance; Postural Orthostatic Tachycardia Syndrome; Standing Position
PubMed: 34813247
DOI: 10.5546/aap.2021.e639