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Hamostaseologie Aug 2023Inherited platelet disorders (IPDs) comprise a heterogeneous group of entities that manifest with variable bleeding tendencies. For successful treatment, the underlying...
Inherited platelet disorders (IPDs) comprise a heterogeneous group of entities that manifest with variable bleeding tendencies. For successful treatment, the underlying platelet disorder, bleeding severity and location, age, and sex must be considered in the broader clinical context. Previous information from the AWMF S2K guideline #086-004 (www.awmf.org) is evaluated for validity and supplemented by information of new available and future treatment options and clinical scenarios that need specific measures. Special attention is given to the treatment of menorrhagia and risk management during pregnancy in women with IPDs. Established treatment options of IPDs include local hemostatic treatment, tranexamic acid, desmopressin, platelet concentrates, and recombinant activated factor VII. Hematopoietic stem cell therapy is a curative approach for selected patients. We also provide an outlook on promising new therapies. These include autologous hematopoietic stem cell gene therapy, artificial platelets and nanoparticles, and various other procoagulant treatments that are currently tested in clinical trials in the context of hemophilia.
Topics: Pregnancy; Humans; Female; Blood Platelet Disorders; Blood Platelets; Hematopoietic Stem Cells; Hemophilia A; Hemostatics
PubMed: 37611608
DOI: 10.1055/a-2080-6602 -
Research and Practice in Thrombosis and... Jul 2023Desmopressin increases plasma factor VIII and von Willebrand factor levels in persons with nonsevere hemophilia A. Patients' perspectives on desmopressin are relevant to...
BACKGROUND
Desmopressin increases plasma factor VIII and von Willebrand factor levels in persons with nonsevere hemophilia A. Patients' perspectives on desmopressin are relevant to increase and optimize its suboptimal use. However, patients' views on desmopressin are not reported.
OBJECTIVES
To evaluate the perspectives of persons with nonsevere hemophilia A on desmopressin use, barriers for its use, side effects, and their knowledge about desmopressin's efficacy and side effects.
METHODS
Persons with nonsevere hemophilia A were included in a cross-sectional, national, multicenter study. Questionnaires were filled out by adult patients and children aged ≥12 years themselves. Caretakers filled out questionnaires for children aged <12 years.
RESULTS
In total, 706 persons with nonsevere hemophilia A were included (544 mild, 162 moderate, [age range, 0-88 years]). Of 508 patients, 234 (50%) patients reported previous desmopressin use. Desmopressin was considered as at least moderately effective in 171 of 187 (90%) patients. Intranasal administration was the modality of choice for 138 of 182 (76%) patients. Flushing was the most reported side effect in 54 of 206 (26%) adults and 7 of 22 (32%) children. The most frequently reported advantage and disadvantage were the convenience of intranasal, out-of-hospital administration by 56% (126/227) and side effects in 18% (41/227), respectively. Patients' self-perceived knowledge was unsatisfactory or unknown in 28% (63/225).
CONCLUSION
Overall, desmopressin was most often used intranasally and considered effective, with flushing as the most common side effect. The most mentioned advantage was the convenience of intranasal administration and disadvantage was side effects. More information and education on desmopressin could answer unmet needs in patients with current or future desmopressin treatment.
PubMed: 37601028
DOI: 10.1016/j.rpth.2023.100281 -
Frontiers in Endocrinology 2023The differential diagnosis between Cushing's disease (CD) and ectopic ACTH syndrome (EAS) is complex, and bilateral inferior petrosal sinus sampling (BIPSS) is...
INTRODUCTION
The differential diagnosis between Cushing's disease (CD) and ectopic ACTH syndrome (EAS) is complex, and bilateral inferior petrosal sinus sampling (BIPSS) is considered the gold-standard test. However, BIPSS with corticotropin-releasing hormone (CRH) stimulation is rarely available.
OBJECTIVE
This retrospective cohort study aimed to assess the accuracy of the inferior petrosal sinus to peripheral ACTH gradient (IPS:P) before and after desmopressin stimulation for the differential diagnosis of ACTH-dependent Cushing's syndrome (CS), applying different cutoff values.
METHODS
A total of 50 patients (48 with CD and 2 with EAS) who underwent BIPSS were included in this study. The sensitivity and specificity of IPS:P in BIPSS before and after desmopressin stimulation were evaluated. Various cutoff values for IPS:P were examined to determine their diagnostic accuracy.
RESULTS
Using the traditional IPS:P cutoff, the sensitivity was 85.1% before stimulation, 89.6% after stimulation, and a combined sensitivity of 91.7%. Applying cutoff values of IPS:P >1.4 before and >2.8 after stimulation, the sensitivity was 87.2% and 89.6%, respectively, with a combined sensitivity of 91.7%. Receiver operating characteristic (ROC) curve analysis determined optimal cutoff values of 1.2 before stimulation and 1.57 after stimulation, resulting in a sensitivity of 93.6% and 93.8%, respectively, with a combined sensitivity of 97.9%. Specificity remained at 100% throughout all analyses. Among the 43 patients who responded positively to stimulation, 42 (97.7%) did so within the first three minutes, and all 43 (100%) did so within the first five minutes. None of the assessed clinical variables predicted the ACTH response to stimulation in BIPSS with statistical significance.
DISCUSSION
ACTH stimulation with desmopressin during BIPSS improves the accuracy of IPS:P, making it a valuable tool for investigating ACTH-dependent Cushing's syndrome. Considering the low risk of complications, we recommend the use of desmopressin stimulation during BIPSS for the differential diagnosis of ACTH-dependent CS.
Topics: Humans; ACTH Syndrome, Ectopic; Adrenocorticotropic Hormone; Cushing Syndrome; Deamino Arginine Vasopressin; Petrosal Sinus Sampling; Pituitary ACTH Hypersecretion; Retrospective Studies
PubMed: 37600715
DOI: 10.3389/fendo.2023.1224001 -
Journal of Medical Cases Jul 2023Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset...
Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin for 15 years, who had increasing polyuria and polydipsia, along with progressive hearing and vision loss. Laboratory tests revealed elevated hemoglobin A1c (HbA1c) and blood sugar levels. Optic nerve, optic chiasm, pons, and brain stem atrophy was seen on magnetic resonance imaging (MRI) of brain. After workup, a diagnosis of DI was made. Once the diagnosis was reached, treatment with subcutaneous insulin and nasal desmopressin improved patient's symptoms. In juvenile diabetic patients presenting with new onset or worsening polyuria and polydipsia, the possibility of WS should be considered. Early diagnosis and initiation of appropriate management leads to improved outcomes and the quality of life.
PubMed: 37560547
DOI: 10.14740/jmc4128 -
Annals of Medicine and Surgery (2012) Aug 2023Osmotic demyelination syndrome (ODS) is a neurological disorder usually after rapid correction of hyponatremia. Only few cases of ODS with hypernatremia and diabetes...
UNLABELLED
Osmotic demyelination syndrome (ODS) is a neurological disorder usually after rapid correction of hyponatremia. Only few cases of ODS with hypernatremia and diabetes insipidus (DI) in postpartum state is reported. Postpartum hypernatremia is described as severe hypernatremia in postpartum period and presents as an encephalopathy with rhabdomyolysis with diffuse white matter hyperintensities suggestive of osmotic demyelination.
CASE PRESENTATION
The authors present a case of 29-year-old female who presented with chief complaint of altered sensorium and quadriparesis. Two days prior to onset of symptoms, she underwent caesarean section, was kept on nil per oral and free fluid restriction, after which she had confusion, altered sensorium, and weakness in all four limbs. Sodium level was 170 mEq/l. Urine osmolality and plasma osmolality was 150 and 410 mOsm/kg of water, respectively. MRI showed high signal intensity lesion in pons suggestive of demyelination. She was diagnosed ODS with transient DI and quadriparesis, in postpartum period due to further rise in sodium after free fluid restriction and nil per oral. She was treated with desmopressin, 5% dextrose and 0.9% normal saline, her quadriparesis recovered and desmopressin was tapered and stopped over 45 days and discharged at stable state.
CLINICAL DISCUSSION
ODS can rarely be associated with hypernatremia in postpartum female presenting as quadriparesis and altered sensorium.
CONCLUSION
Clinicians should be familiar of ODS with hypernatremia with transient DI in postpartum period, which is reversible and can be managed by desmopressin and fluid replacement.
PubMed: 37554876
DOI: 10.1097/MS9.0000000000000987 -
Cureus Jul 2023Primary central nervous system (CNS) lymphoma or systemic non-Hodgkin lymphoma that infiltrates the CNS can cause central diabetes insipidus (CDI). Polyuria and...
Primary central nervous system (CNS) lymphoma or systemic non-Hodgkin lymphoma that infiltrates the CNS can cause central diabetes insipidus (CDI). Polyuria and polydipsia should raise the suspicion of CDI development in patients with lymphoma that infiltrates the CNS. CDI is effectively treated with desmopressin. However, careful monitoring of the patient's serum sodium, fluid intake, urine output, and weight is necessary because patients receiving desmopressin may develop hyponatremia, so they should be alert to recognize this side effect promptly. Moreover, CDI due to lymphoma can occasionally be reversible. Therefore, the dosage of desmopressin should be adapted during or after the treatment of lymphoma.
PubMed: 37551214
DOI: 10.7759/cureus.41500 -
Cureus Jul 2023Hyponatremia refers to an abnormally low serum sodium level, and it is the most common electrolyte disorder encountered in the clinical setting. Despite its prevalence,...
Hyponatremia refers to an abnormally low serum sodium level, and it is the most common electrolyte disorder encountered in the clinical setting. Despite its prevalence, hyponatremia can be challenging to clinically identify in some cases due to non-specific symptom presentation. In this case report, we illustrate the rare clinical course of a nearly asymptomatic patient with severe hyponatremia and discuss potential explanations for this uncommon presentation.
PubMed: 37546107
DOI: 10.7759/cureus.41474 -
Archivos Argentinos de Pediatria Dec 2023Children with sellar and/or suprasellar lesions may develop central diabetes insipidus with subsequent inappropriate antidiuretic hormone secretion. An increased...
Children with sellar and/or suprasellar lesions may develop central diabetes insipidus with subsequent inappropriate antidiuretic hormone secretion. An increased incidence of polyuria, natriuresis, and hyponatremia has been reported in some cases, which make up the diagnostic triad of cerebral salt wasting syndrome. Here we report the clinical course of 7 patients with a history of acute central nervous system injury and central diabetes insipidus followed by cerebral salt wasting syndrome. Treatment included the sequential use of parenteral saline solution, oral sodium chloride, desmopressin, mineralocorticoids, and even thiazides. Due to persistent polyuria and hyponatremia, ibuprofen was added. As a result of this sequential therapeutic regimen, daily urine output reduced significantly from 10 mL/kg/h to 2 mL/kg/h over an average period of 5 days, together with a normalization of natremia (from 161 mEq/L to 143 mEq/L) over an average period of 9 days. No treatment-related adverse effects were observed in any case.
Topics: Humans; Child; Hyponatremia; Diabetes Insipidus, Neurogenic; Polyuria; Ibuprofen; Research
PubMed: 37493586
DOI: 10.5546/aap.2023-10035.eng