Duplicated adrenal veins in primary aldosteronism misdiagnosed with ectopic aldosteronoma due to apparent bilateral aldosterone suppression.

BACKGROUND: Primary aldosteronism (PA) is considered the number one aetiology for secondary hypertension. Apart from confirmatory tests and localisation of PA determined by computed tomography (CT), adrenal venous sampling (AVS) is used to define whether aldosterone hypersecretion occurs inside one or both adrenal glands. However, even correctly-performed AVS may lead to undiagnostic results such as apparent bilateral adrenal suppression (apparent bilateral aldosterone suppression), in which the adrenal aldosterone-to-cortisol ratios (AC ratios) are decreased bilaterally compared to the peripheral blood sample, with several causes contributing to it. CASE DESCRIPTION: Here, we describe the case of a 48-year-old man who was referred to our department for further investigation with a history of refractory hypertension, hypokalaemia, and aortic dissection. His hypertension and hypokalaemia were initially attributed to ectopic aldosteronoma due to his adrenal CT scan and AVS results. However, the correct diagnosis of an adenoma with duplicated right adrenal veins (duplicated adrenal veins) due to apparent bilateral aldosterone suppression was confirmed during surgery. CONCLUSION: AVS is the gold standard accepted for PA subtyping, but sometimes when apparent bilateral aldosterone suppression is present, it can give ambiguous results. Duplicated right adrenal veins, may impact results, thus, AVS may not accurately provide evidence of unilateral hypersecretion for all PA patients. Repeat AVS or adrenal surgery can provide worthwhile diagnostic conclusions.

The recognition and diagnosis of primary aldosteronism (PA) have increased in recent years and clinicians usually require adrenal venous sampling (AVS) to identify the affected side, and it's crucial for further treatments of PA patients (surgery or medicine).We presented an example of unilateral aldosteronoma with duplicated adrenal veins whose AVS results suggested apparent bilateral aldosterone suppression (the adrenal venous aldosterone/cortisol ratios are bilaterally lower than the peripheral ratios). He was misdiagnosed with ectopic aldosteronoma due to computed tomography (CT) features, but surgery findings revealed duplicated adrenal veins.Unclear AVS results such as apparent bilateral aldosterone suppression can lead to a missed diagnosis of unilateral PA, preventing patients from receiving potentially curative adrenal resection.Our case can serve as an example for clinicians that encounter the same condition to provide further investigational clues to ensure the correct aetiological diagnosis for patients with PA.

Pseudo-pseudo Meigs syndrome in systemic lupus erythematosus misdiagnosed as pseudo-Meigs' syndrome: A case report.

Symptoms of pelvic masses, elevated serum CA125 levels, massive ascites, and pleural effusion in female patients are usually associated with malignancy. Some benign ovarian tumors or other nonmalignant tumors may also produce similar symptoms, called Meigs syndrome or pseudo-Meigs' syndrome, which should be one of the differential diagnoses. However, there is an extremely rare form of SLE called pseudo-pseudo Meigs syndrome (PPMS), which may also present with the above symptoms, but is not associated with any of the tumors. In this paper, we report a case of a 47-year-old woman who presented with abdominal distention. The patient was found to have elevated serum CA125 levels to 182.9 U/mL before the operation. Her PET-CT suggested a large heterogeneous mass in the pelvis measuring 8.2 × 5.8 cm with a large amount of ascites. She was initially diagnosed with ovarian cancer and underwent exploratory laparotomy. Pathology of the surgical specimen revealed a uterine leiomyoma. Two months after discharge, the patient's ascites reappeared along with recurrent intestinal obstruction. After ascites and serological tests, she was eventually diagnosed with systemic lupus erythematosus and received systemic hormonal therapy.

[Giant Bullae Misdiagnosed as Pneumothorax:Report of a Case].

A 46-year-old man was taken to a hospital by ambulance because of sudden onset of dyspnea, and was inserted chest drainage tube with a diagnosis of right-sided tension pneumothorax on chest X-ray. Since the chest drainage was not effective, he was transferred to our institute. Based on chest computed tomography (CT) findings, a diagnosis of giant bullae of the right lung was made, and surgical treatment was performed. Postoperatively, the improvement of respiratory function was confirmed.

Clinical characteristics and misdiagnosis of spontaneous isolated superior mesenteric artery dissection.

BACKGROUND: Spontaneous isolated superior mesenteric artery (SMA) dissection (SISMAD) is a rare disease with a potentially fatal pathology. Due to the lack of specificity of clinical characteristics and laboratory tests, misdiagnosis and missed diagnosis are often reported. Therefore, the aim of this study was to investigate the clinical characteristics and misdiagnosis of SISMAD. METHODS: In a registry study from January 2013 to December 2020, 110 patients with SISMAD admitted to the First Affiliated Hospital of Wenzhou Medical University were enrolled. Descriptive methods were used to analyse clinical characteristics, laboratory data, diagnostic method or proof, misdiagnosed cases, plain computed tomography (CT) findings and dissection features. To study the relationship between dissection features and treatment modality, the selected patients were classified into the conservative group (n = 71) and the non-conservative group (n = 39). The Chi-square test and Student's t-test were used to compare the conservative and non-conservative groups. RESULTS: One hundred ten patients with SISMAD, including 100 (90.9%) males and 10 (9.1%) females, with a mean age of 52.4 ± 7.6 years, were enrolled in the study. Relevant associated comorbidities included a history of hypertension in 43 cases (39.1%), smoking in 46 cases (41.8%), and alcohol consumption in 34 cases (30.9%). One hundred four patients (94.5%) presented with abdominal pain. Abnormalities in the C-reactive protein lever, white blood cells count and D-dimer lever were the 3 most common abnormal findings. There were 32 misdiagnosis or missed diagnosis. Fourteen cases were misdiagnosed because of insufficient awareness. Twelve cases were misdiagnosed because of disease features. Twenty cases were misdiagnosed as SMA embolism. Among them, There were 15 cases of Yun type IIb SISMAD. Sixty-six patients underwent plain CT. The maximum SMA diameter was 12.1 (11.3-13.1) mm, and the maximum SMA diameter was located on the left renal vein (LRV) plane in 68.2% of cases. Dissection features observed on contrast-enhanced CT (CECT), CT angiography (CTA), or digital subtraction angiography (DSA) showed that there were 70 cases (63.6%) of Yun type IIb SISMAD, the maximum SMA diameter was 13.0 ± 2.4 mm, the location of the maximum SMA diameter was on the LRV plane in 64.5% of cases, and 7.3% of cases were complicated with intestinal obstruction, including bowel necrosis in 3.6% of cases. There were differences between the conservative group and non-conservative groups in the residual true lumen diameter or degree of true lumen stenosis and the presence of intestinal obstruction or bowel necrosis (all P < 0.05). CONCLUSION: For SISMAD, misdiagnosis and missed diagnosis were usually caused by insufficient awareness and disease features. SISMAD should be considered in the differential diagnosis of patients presenting with unexplained abdominal pain, especially males, patients in the 5th decade of life, patients with hypertension, and patients with an enlarged SMA diameter or a maximum SMA diameter located on the LRV plane on plain CT. Mesenteric CTA or CECT should be recommended for the investigation of these conditions.

Granulation tissue-type hemangioma of ureter: a highly misdiagnosed disease (a rare case report and literature review).

BACKGROUND: Ureteral granulation tissue hemangiomas are rare benign vascular lesions, and they may be clinically asymptomatic or present with massive or recurrent hematuria. Sometimes hemangiomas are difficult to distinguish from malignant ureteral tumors, and most ureteral hemangiomas are confirmed by postoperative pathological examination. This article aims to present a case of granulation tissue-type hemangioma of the ureter and briefly review the current literature on this condition. CASE PRESENTATION: A 30-year-old male patient presented with complaints of painless macroscopic hematuria for 2 months. Computerized tomography of the urinary system showed that the upper 1/3 of the right ureter was occupied, and then the possibility of tumor lesions was considered. The urine cytology showed occasional nuclear abnormalities and many light-stained crystals in urine. Because of suspicious radiological and cytological findings, the patient underwent the right ureteroscopy and the laparoscopic right ureteral mass resection. The postoperative pathological report showed that it was a mesenchymal tumor. The morphological and immunohistochemical staining was consistent with that of hemangioma, tending to granulation tissue hemangioma. After surgery, the patient was in a good state and recovered well at the last follow-up. CONCLUSIONS: Ureteral granulation tissue hemangiomas are an easily misdiagnosed disease. Intermittent painless hematuria is an important characteristic of this disease. Therefore, we suggest that unnecessary radical surgery can be avoided when clinicians consider the possibility of benign ureteral tumors during the evaluation.

Russula subnigricans Poisoning Causes Severe Rhabdomyolysis That Could be Misdiagnosed as Non-ST Segment Elevation Myocardial Infarction.

Mushroom poisoning and subsequently the number of patients visiting emergency rooms are increasing, as well as the proportion of fatal mushroom poisonings. Myocytic mushroom poisoning is one of the new clinical classifications. This report documents the course of a family with Russula subnigricans poisoning complicated by severe rhabdomyolysis, including a case that was misdiagnosed as myocardial infarction. A 64-y-old man visited our hospital with symptoms including substernal chest discomfort, nausea, vomiting, and myalgia, lasting for 12 h. His laboratory tests showed elevated serum high-sensitive troponin I. He was diagnosed with non-ST segment elevation myocardial infarction. After that, 2 family members who ate mushrooms together were transferred from a local emergency room with the diagnosis of rhabdomyolysis. Consequently, rhabdomyolysis due to mushroom poisoning was diagnosed. They were hospitalized in the intensive care unit. After admission, conservative management, including primary fluid resuscitation, was performed, and the patients were discharged without complications. R subnigricans poisoning was revealed after investigation and should be considered in mushroom poisoning with rhabdomyolysis. Early recognition and intensive supportive care are important for mushroom poisoning patients.

Misdiagnosis and Mistreatment of a Rare Case of Intracranial Oncogenic Osteomalacia with an Altered Amino Acid Profile.

Background. Oncogenic osteomalacia (OO), also known as tumor-induced osteomalacia (TIO), is a rare paraneoplastic syndrome caused by mesechymal tumors secreting fibroblast growth factor 23 (FGF23). Common in middle age, these tumors are often disclosed by progressive generalized bone pain and muscle weakness, along with an altered biochemical profile. Despite its characteristic presentation, the disease is often underrecognized with delayed onset of surgical or pharmacological intervention that can have serious repercussions on the patients' health and quality of life. Case presentation. We describe the case of a 65-year-old Caucasian man presenting TIO with intracranial and spinal localizations and Fanconi-like aminoaciduria. The condition was misdiagnosed and mistreated for three years, leading to loss of self-sufficiency and depression. Following proper identification, the spinal mass was excised with complete remission of the functional symptoms. As it was not possible to remove the intracranial lesion, the patient was treated conservatively with calcitriol and phosphorous supplements that granted good metabolic control up to the time of a recent follow-up visit (at 5 years). Conclusions. The finding of an altered amino acid profile, not usually reported in these cases, should prompt clinicians to a wider usage of these molecules as suitable candidates for metabolic diseases. In addition to providing central information, they are easy to obtain and inexpensive to analyze. Such determination could help to speed up the diagnostic process, as a long-lasting history of misdiagnosis and mistreatments can lead primarily to clinical worsening, but also to the use of expensive, useless medications with side effects that contribute to poor patient health.

[Misdiagnosis of Acute Renal Artery Thrombosis as Acute Abdominal Disease:Report of One Case].

Renal artery thrombosis can cause acute occlusion of unilateral or bilateral renal arteries,and kidney failure would be induced if it is not diagnosed and treated in time.Therefore,rapid and correct treatment is especially important for renal artery thrombosis.Due to the lack of specificity of clinical manifestations,this disease in commonly misdiagnosed or missed and thus has a low early diagnosis rate.Here we report a case of acute renal artery thrombosis to improve the diagnosis and treatment.

Crown-rump length measurement error: impact on assessment of growth.

OBJECTIVE: To examine the impact of first-trimester crown-rump length (CRL) measurement error on the interpretation of estimated fetal weight (EFW) and classification of fetuses as small-, large- or appropriate-for-gestational age on subsequent growth scans. METHODS: We examined the effects of errors of ± 2, ± 3 and ± 4 mm in the measurement of fetal CRL on percentiles of EFW at 20, 32 and 36 weeks' gestation and classification as small-, large- or appropriate-for-gestational age. Published data on CRL measurement error were used to determine variation present in practice. RESULTS: A measurement error of -2 mm in first-trimester CRL shifts an EFW on the 10th percentile at the 20-week scan to around the 20th percentile, and the effect of a CRL measurement error of + 2 mm would shift an EFW on the 10th percentile to around the 5th percentile. At 32 weeks, a first-trimester CRL measurement error would shift an EFW on the 10th percentile to the 7th (+ 2 mm) or 14th (-2 mm) percentile; at 36 weeks, the EFW would shift from the 10th percentile to the 8th (+ 2 mm) or 12th (-2 mm) percentile. Published data suggest that measurement errors of 2 mm or more are common in practice. CONCLUSION: Because of the widespread and potentially severe consequences of CRL measurement errors as small as 2 mm on clinical assessment, patient management and research results, there is a need to increase awareness of the impact of CRL measurement error and to reduce measurement error variation through standardization and quality control. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.

Impact of biometric measurement error on identification of small- and large-for-gestational-age fetuses.

OBJECTIVES: First, to obtain measurement-error models for biometric measurements of fetal abdominal circumference (AC), head circumference (HC) and femur length (FL), and, second, to examine the impact of biometric measurement error on sonographic estimated fetal weight (EFW) and its effect on the prediction of small- (SGA) and large- (LGA) for-gestational-age fetuses with EFW < 10th and > 90th percentile, respectively. METHODS: Measurement error standard deviations for fetal AC, HC and FL were obtained from a previous large study on fetal biometry utilizing a standardized measurement protocol and both qualitative and quantitative quality-control monitoring. Typical combinations of AC, HC and FL that gave EFW on the 10th and 90th percentiles were determined. A Monte-Carlo simulation study was carried out to examine the effect of measurement error on the classification of fetuses as having EFW above or below the 10th and 90th percentiles. RESULTS: Errors were assumed to follow a Gaussian distribution with a mean of 0 mm and SDs, obtained from a previous well-conducted study, of 6.93 mm for AC, 5.15 mm for HC and 1.38 mm for FL. Assuming errors according to such distributions, when the 10th and 90th percentiles are used to screen for SGA and LGA fetuses, respectively, the detection rates would be 78.0% at false-positive rates of 4.7%. If the cut-offs were relaxed to the 30th and 70th percentiles, the detection rates would increase to 98.2%, but at false-positive rates of 24.2%. Assuming half of the spread in the error distribution, using the 10th and 90th percentiles to screen for SGA and LGA fetuses, respectively, the detection rates would be 86.6% at false-positive rates of 2.3%. If the cut-offs were relaxed to the 15th and 85th percentiles, respectively, the detection rates would increase to 97.0% and the false-positive rates would increase to 6.3%. CONCLUSIONS: Measurement error in fetal biometry causes substantial error in EFW, resulting in misclassification of SGA and LGA fetuses. The extent to which improvement can be achieved through effective quality assurance remains to be seen but, as a first step, it is important for practitioners to understand how biometric measurement error impacts the prediction of SGA and LGA fetuses. © 2019 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of the International Society of Ultrasound in Obstetrics and Gynecology.

Regret among primary care physicians: a survey of diagnostic decisions.

BACKGROUND: Experienced and anticipated regret influence physicians' decision-making. In medicine, diagnostic decisions and diagnostic errors can have a severe impact on both patients and physicians. Little empirical research exists on regret experienced by physicians when they make diagnostic decisions in primary care that later prove inappropriate or incorrect. The aim of this study was to explore the experience of regret following diagnostic decisions in primary care. METHODS: In this qualitative study, we used an online questionnaire on a sample of German primary care physicians. We asked participants to report on cases in which the final diagnosis differed from their original opinion, and in which treatment was at the very least delayed, possibly resulting in harm to the patient. We asked about original and final diagnoses, illness trajectories, and the reactions of other physicians, patients and relatives. We used thematic analysis to assess the data, supported by MAXQDA 11 and Microsoft Excel 2016. RESULTS: 29 GPs described one case each (14 female/15 male patients, aged 1.5-80 years, response rate < 1%). In 26 of 29 cases, the final diagnosis was more serious than the original diagnosis. In two cases, the diagnoses were equally serious, and in one case less serious. Clinical trajectories and the reactions of patients and relatives differed widely. Although only one third of cases involved preventable harm to patients, the vast majority (27 of 29) of physicians expressed deep feelings of regret. CONCLUSION: Even if harm to patients is unavoidable, regret following diagnostic decisions can be devastating for clinicians, making them 'second victims'. Procedures and tools are needed to analyse cases involving undesirable diagnostic events, so that 'true' diagnostic errors, in which harm could have been prevented, can be distinguished from others. Further studies should also explore how physicians can be supported in dealing with such events in order to prevent them from practicing defensive medicine.

Concomitant Posterolateral Corner Injuries in Skeletally Immature Patients With Acute Anterior Cruciate Ligament Injuries.

BACKGROUND: Missed posterolateral corner (PLC) injuries are a known cause of anterior cruciate ligament reconstruction (ACL) failure in the adult population. Failed ACL reconstruction causes significant morbidity in the skeletally immature pediatric population. There is little literature on the character and potential significance of PLC injuries in skeletally immature patients. METHODS: Magnetic resonance imaging studies of the knee at a tertiary care children's hospital for patients who underwent an ACL reconstruction without PLC surgery were retrospectively reviewed. Demographic variables were obtained through chart review, and magnetic resonance imaging studies were evaluated for PLC (popliteus, fibular collateral ligament, popliteofibular ligament, and arcuate ligament) injury, and ACL, medial collateral ligament (MCL), bone bruise, fracture, and meniscal pathology by an experienced pediatric musculoskeletal radiologist. RESULTS: A total of 50 patients with a mean age at 13.3 years at injury were analyzed. PLC injuries were found in 26 patients (52%), with 7 patients (14%) having a complete tear of a component of the PLC. There was no association between sex (P=0.35), Segond fracture (P=0.09), meniscus injury (P=0.92), or MCL injury (P=0.24) with the risk of PLC injury. There was an association between patient age and PLC injury (P=0.02). For each additional year of age, the odds of PLC injury increased by 1.8 times (odds ratio, 1.8; 95% confidence interval, 1.4-2.2). There was no association between PLC injury and ACL graft failure (P=0.19). CONCLUSIONS: Missed PLC injuries are a significant source of morbidity and poor clinical outcomes in the management of concomitant ACL injuries in adults. This study demonstrates the prevalence of PLC injuries in the setting of concomitant ACL injuries in the unique skeletally immature patient population. Incomplete PLC injuries are relatively common. Complete PLC injuries are relatively uncommon. PLC injury was more common in older patients. No other concomitant injury predicted the likelihood of PLC injury. Further research is needed regarding the risk of ACL reconstruction failure from associated PLC injury and the indications for PLC reconstruction in skeletally immature patients. LEVEL OF EVIDENCE: Level IV-diagnostic study.

Is Initial Misdiagnosis Associated with Reaching Disability Milestones in Patients with Multiple Sclerosis?

Background and objectives: multiple sclerosis (MS) is a chronic demyelinating disorder of the CNS with a variable course and disability progression. The latter may be prevented with disease-modifying therapy (DMT). Initial misdiagnosis may postpone the use of DMT. There are no studies to explore whether initial misdiagnosis is indeed associated with a higher rate of reaching disability in MS patients. We aimed to investigate the association between initial misdiagnosis and reaching disability milestones in relapsing-remitting MS (RR-MS) patients. Materials and methods: Data from 128 RR-MS patients were retrospectively reviewed. EDSS 4 and EDSS 6 were chosen as disability milestones as those associated with a significant decrease in ambulation. Survival analysis was used, and Kaplan-Meier curves were generated to investigate how initial misdiagnosis affects reaching the defined milestones. Results: 53 patients (41.4%, 31 females, 22 males) were initially misdiagnosed. Initially misdiagnosed patients had a lesser risk of reaching EDSS 4 up to 11 years and EDSS 6 up to 22 years from the onset than non-misdiagnosed patients (p = 0.22 and p = 0.25 correspondingly). Median time to reaching EDSS 4 and 6 was eight years (95% CI 0.0-17.6) and 10 years (95% CI 4.25-20.75) in misdiagnosed and three years (95% CI 0.0-20.0 years) and five years (95% CI 0.0-13.73 years) in non-misdiagnosed patients correspondingly. Conclusions: Initially misdiagnosed RR-MS patients tended to reach disability milestones later than non-misdiagnosed ones, which might reflect an intrinsically milder disease. Individuals presenting with mild or non-specific symptoms suspicious of MS, must be deliberately managed.

Lipedema: A Commonly Misdiagnosed Fat Disorder.

Lipedema is a fat disorder that is often misdiagnosed. It was first identified at the Mayo Clinic in 1940, but medical schools do not include it in their curriculum and is therefore poorly understood. It presents as disproportionate and symmetrical accumulations of fat (bilateral), which is often accompanied by orthostatic edema. Early diagnosis and treatment are crucial, as the disease is progressive and can lead to immobility as well as a significant decrease in the quality of life. Lipedema differs from obesity because it does not respond to diet and exercise. This article gives you a glimpse into what lipedema is about and will help you identify some differences between lipedema and lymphedema. It will also help you identify which surgical procedures have been successful in treating the disease.

Recurrent syringomatous adenoma of the nipple following a misdiagnosis: A case report.

Infiltrating syringomatous adenoma of the nipple (SAN) is a rare benign neoplasm of the breast that is often misdiagnosed. SAN may present with a subareolar lesion and clinical, mammographic, and ultrasonographic findings associated with malignancy. We present the case of a 60-year-old woman with a painful, firm, solid tumor in her left breast and deformation of the left nipple-areolar complex (NAC). Histopathological test results were conflicting. The tumor, including the NAC were locally excised. Postsurgical immuno-histochemical tests revealed squamous histology, whereas myoepithelial cells were present in the resected specimen, a feature consistent with SAN. The pathologist noted microscopically positive surgical margins. Three months after surgery, tumor recurrence occurred. The patient underwent revision surgery with wide excision of the skin and gland around the lesion, followed by immediate breast reconstruction, using a pedicled myocutaneous latissimus dorsi (pLD) flap. Extreme care should be taken when diagnosing SAN to ensure proper treatment and prevent recurrence.

The Unacceptable Morbidity of Negative Laparoscopic Appendicectomy.

BACKGROUND: One of the most common acute conditions managed by general surgeons is acute appendicitis. Laparoscopic appendicectomy (LA) is the surgical technique used by many surgeons. The aims of this study were to define our unit's negative appendicectomy rate and compare the outcomes associated with removal of a normal appendix with those for acute appendicitis in patients having LA. METHODS: A single-centre retrospective case note review of patients undergoing LA for suspected acute appendicitis was performed. Patients were divided into positive and negative appendicectomy groups based on histology results. The positive group was subdivided into uncomplicated and complicated (perforated and/or gangrenous) appendicitis. Outcomes were compared between groups. RESULTS: There were 1413 patients who met inclusion criteria, 904 in the positive group and 509 in the negative group, an overall negative appendicectomy rate of 36.0%. Morbidity rates (6.3% vs. 6.9%; P = 0.48) and types of morbidity were the same for negative appendicectomy and uncomplicated appendicitis. There was no significant difference in complication severity (all P > 0.17) or length of stay (2.3 vs. 2.6 days; P = 0.06) between negative appendicectomy and uncomplicated appendicitis groups. Patients with complicated appendicitis had a significantly higher morbidity rate compared to negative and uncomplicated groups (20.1% vs. 6.3% and 20.1% vs. 6.9%; both P < 0.001). CONCLUSION: The morbidity of negative LA is the same as LA for uncomplicated appendicitis. The morbidity of LA for complicated appendicitis is significantly higher. The selection criteria for LA in our unit needs to be reviewed to address the high negative appendicectomy rate and avoid unnecessary surgery and its associated morbidity.

Systematic literature review on the delays in the diagnosis and misdiagnosis of cluster headache.

INTRODUCTION: Patients with cluster headache (CH), the most common trigeminal autonomic cephalalgia, often face delayed diagnosis, misdiagnosis and mismanagement. OBJECTIVES: To identify, appraise and synthesise clinical studies on the delays in diagnosis and misdiagnosis of CH in order to determine its causes and help the management of this condition. METHODS: The systematic review was prepared, conducted and reported in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis. It was registered with International Prospective Register of Systematic Reviews. A systematic search of different electronic databases (Medline, EMBASE, PsycINFO, PubMed, CINAHL, BNI, HMIC, AMED, HBE and Cochrane Library) was carried out in May 2017. Reference lists of relevant articles were hand searched. RESULTS: The search identified 201 unique studies. Fifteen studies met the inclusion criteria of which 13 case series studies and two survey studies. Nine studies assessed the delays in diagnosis and misdiagnosis of CH, five studies the delays in diagnosis and one study the misdiagnosis of CH. The studies included 4661 patients. Delays in diagnosis, misdiagnosis and mismanagement have been reported in many European countries, Japan and in the USA with well-developed health services. The patients with CH often visited many different clinicians, surgeons and dentists and received multiple diagnosis prior to being correctly diagnosed. CONCLUSION: This systematic review shows that the delays in the diagnosis of CH are a widespread problem, the time to diagnosis still vary from country to country and both patients and physicians are responsible for the delays in diagnosis.

Risk factors for diagnostic delay in Chinese patients with hereditary angioedema.

Background: Hereditary angioedema (HAE) is still underdiagnosed or diagnosed after a serious delay. This study aimed to evaluate the diagnostic delay (DD) and misdiagnosis of HAE, and to explore the risk factors associated with a longer DD. Methods: An Internet-based survey was sent to 129 patients with type 1 and 2 HAE who presented to the Allergy Department, Peking Union Medical College Hospital between 1983 and 2017; 107 patients (82.9%) responded, among whom, a total of 96 patients provided complete information about medical visits. DD was divided into two subperiods according to the lower quartile, i.e., DD ≤ 6 years and DD > 6 years. Results: The median DD of all 96 patients with HAE was 11.04 years (interquartile range [IQR], 6.06-18.27 years). A significant difference (p < 0.001) in the median DD was found between different decades of onset, i.e., before 1999 (19.75 years [IQR, 13.58-29.50 years]), between 2000 and 2009 (8.67 years [IQR, 5.67-11.04 years]), and between 2010 and 2017 (3.79 years [IQR, 2.29-5.71 years]). Patients with a previous misdiagnosis experienced a longer median delay to complement 1 inhibitor HAE diagnosis (13.17 years [IQR, 7.40-20.50 years]) compared with patients without a previous misdiagnosis (median 6.96 years [IQR, 2.83-10.65 years]; p ≤ 0.001). According to the logistic regression analysis, a younger age of onset and earlier decade of onset were significant predictors of a DD of >6 years. The most frequently visited departments and most frequently misdiagnosed diseases were summarized. Conclusion: The median DD of patients with HAE was 11.04 years (IQR, 6.06-18.27 years). A younger age of onset and earlier decade of onset were predictors of a DD of >6 years. Seventy-five percent of the patients reported receiving more than one previous misdiagnosis. The patients with a previous misdiagnosis had longer DDs compared with patients without a misdiagnosis.

Why do temporal arteries go wrong? Principles and pearls from a clinician and a pathologist.

Early diagnosis and treatment of GCA is essential to prevent complications of the disease, including permanent vision loss. Temporal artery biopsy has been intrinsically linked with the diagnosis of GCA for several decades. A negative predictive value of > 90% has been reported for temporal artery biopsy; however, a negative result does not reliably indicate the absence of GCA because inflammation of the temporal artery is not always evident because of segmental involvement or other reasons. This is demonstrated by a case study of a patient hospitalized following acute vision loss to the right eye whose glucocorticoid treatment was suspended after temporal artery biopsy revealed no evidence of GCA. The patient subsequently lost sight in the left eye 6 weeks after stopping glucocorticoid therapy. The specificity of temporal artery biopsy for the diagnosis of GCA is variable and influenced by many factors, including length of biopsy specimens, vasculitis in vessels other than the temporal artery (ophthalmic, retinal and posterior ciliary vessels), unilateral versus bilateral biopsy, expertise of the surgeon, interpretation of histology, effects of treatment and confounding factors such as atherosclerosis or other non-GCA diseases that can affect the temporal artery. Considering the limitations of temporal artery biopsy, collaboration and education between the clinician, the pathologist and the patient, taking into account a thorough examination of patient history, recognizing signs and symptoms, and potentially involving newer imaging studies with trained technicians and physicians, are essential in confirming or eliminating diagnosis of GCA.