Cardiac involvement in classical or hypermobile Ehlers–Danlos syndrome is uncommon

PurposeCardiac–valvular and vascular Ehlers–Danlos syndrome (EDS) have significant cardiovascular issues. The prevalence and significance of such abnormalities in classical (cEDS) or hypermobile EDS (hEDS) remain unclear. We report the prevalence of cardiac abnormalities in patients with cEDS and hEDS.MethodsWe identified 532 pediatric patients with potential EDS evaluated at our institution from January 2014 through April 2019 by retrospective chart review. Ninety-five patients (12 cEDS and 83 hEDS patients) met 2017 EDS diagnostic criteria and had an echocardiogram. One patient was excluded due to complex congenital heart disease, and two were excluded due to lack of images. We reviewed echocardiograms for all structural abnormalities.ResultsOf these 95 patients, 1 had mild aortic root dilation, and 1 had mild ascending aorta dilation in the setting of a bicuspid aortic valve. Eleven patients (11.6%) had a cardiac valve abnormality, all of which were trivial to mild. None of the patients required cardiac intervention.ConclusionOur results demonstrate that aortic dilation and valvular anomalies are uncommon in cEDS or hEDS patients. Given the lack of evidence, we do not recommend echocardiographic evaluation and surveillance in patients with cEDS and hEDS in the absence of clinical findings or positive family history.     

Prevalence of cardiovascular manifestations in patients with hypermobile Ehlers-Danlos syndrome at the University of Miami

Cardiovascular system involvements have been frequently reported in hypermobile Ehlers-Danlos Syndrome (hEDS). Mitral valve prolapse (MVP) and aortic root dilatation are included in the 2017 international classification criteria for hEDS. Different studies have found conflicting results regarding the significance of cardiac involvement in hEDS patients. We conducted a retrospective review of cardiac involvement in patients diagnosed with hEDS based on the 2017 International diagnostic criteria to provide further evidence toward more defined and reliable diagnostic criteria and recommended cardiac surveillance. A total of 75 hEDS patients with at least one diagnostic cardiac evaluation were included in the study. The most common reported cardiovascular complaints were lightheadedness (80.6%), followed by palpitations (77.6%), fainting (44.8%), and chest pain (32.8%). Of the 62 echocardiogram reports, 57 (91.9%) showed trace/trivial to mild valvular insufficiency, and 13 (21%) had additional abnormalities such as grade I diastolic dysfunction, mild aortic sclerosis, and trivial or small pericardial effusion. Of the 60 electrocardiograms (ECG) reports, 39 (65%) were normal, and 21 (35%) reported minor abnormalities or normal variants. Even though many hEDS patients in our cohort experienced cardiac symptoms, the presence of a significant cardiac abnormality was very low.     

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder

Pathogenic variants in COL1A1 and COL1A2 are involved in osteogenesis imperfecta (OI) and, rarely, Ehlers-Danlos syndrome (EDS) subtypes and OI-EDS overlap syndromes (OIEDS1 and OIEDS2, respectively). Here we describe a cohort of 34 individuals with likely pathogenic and pathogenic variants in COL1A1 and COL1A2, 15 of whom have potential OIEDS1 (n = 5) or OIEDS2 (n = 10). A predominant OI phenotype and COL1A1 frameshift variants are present in 4/5 cases with potential OIEDS1. On the other hand, 9/10 potential OIEDS2 cases have a predominant EDS phenotype, including four with an initial diagnosis of hypermobile EDS (hEDS). An additional case with a predominant EDS phenotype had a COL1A1 arginine-to-cysteine variant that was originally misclassified as a variant of uncertain significance despite this type of variant being associated with classical EDS with vascular fragility. Vascular/arterial fragility was observed in 4/15 individuals (including one individual with an original diagnosis of hEDS), which underscores the unique clinical surveillance and management needs in these patients. In comparison to previously described OIEDS1/2, we observed differentiating features that should be considered to refine currently proposed criteria for genetic testing in OIEDS, which will be beneficial for diagnosis and management. Additionally, these results highlight the importance of gene-specific knowledge for informed variant classification and point to a potential genetic resolution (COL1A2) for some cases of clinically diagnosed hEDS.     

Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder due to heterozygous pathogenic COL3A1 variants. Arterial, intestinal, and/or uterine fragility is the disease hallmark and results in reduced life expectancy. The clinical diagnosis is not always straightforward and patients’ selection for molecular confirmation depends on the characteristics of applied criteria, that is, the Villefranche criteria (in use until 2017) and their revision according to the new EDS nosology. Herein, we reassessed the clinical features of 50 molecularly proven vEDS patients, diagnosed according to the Villefranche nosology between 2000 and 2016, using the 2017 classification in order to explore its clinical application. Our findings indicate that the Villefranche criteria were particularly valuable for symptomatic patients, even if with a limited specificity. Our study also suggests that the revised vEDS criteria, although expected to be more specific, might have a poorer accuracy, principally in terms of sensitivity. Both sets of criteria are less effective in presymptomatic young patients, especially in the absence of a clear-cut family history. For these patients, the careful evaluation of the cutaneous, articular, and dysmorphic features and, above all, genetic testing remain crucial to set-up proper follow-up and surveillance before catastrophic vascular and intestinal events.     

Mitral valve prolapse and aortic root dilation in adults with hypermobile Ehlers–Danlos syndrome and related disorders

Ehlers–Danlos syndromes (EDSs) are a group of inherited connective tissue disorders, and among them, classical EDS (cEDS) and hypermobile EDS (hEDS) are the most common. Mitral valve prolapse (MVP) and aortic root dilation (ARD) have previously been reported to occur at an increased frequency within cEDS and hEDS. More recently, a study performed in the pediatric population did not show increased prevalence (Ritter et al., American Journal of Medical Genetics Part A, 173(6), 1467–1472, 2017). The purpose of this study was to review a large population of individuals with cEDS, hEDS, and hypermobility spectrum disorders to determine the frequency of MVP and ARD. A retrospective chart review of 209 individuals with echocardiograms was performed. Overall, 6.4% (13/209) had MVP and 1.6% (3/189) were found to have ARD. Although the presence of MVP is higher than what has been reported in the general population, no patients had severe MVP or required surgical intervention. No patients in this cohort had an aortic root diameter requiring surgical repair. Based on the results of this study and previous studies, routine echocardiograms to assess for valvular diseases and ARD may not be necessary unless warranted by presence of symptoms or family history.     

Neurofibromatosis type 1: A comparison of the 1997 NIH and the 2021 revised diagnostic criteria in 75 children and adolescents

PurposeExamining a cohort of patients suspicious of neurofibromatosis type 1 (NF1) we compared the revised diagnostic criteria with the previous National Institutes of Health (NIH) diagnostic criteria. We asked whether the refinement improved distinguishing between NF1, Legius syndrome, and constitutional mismatch repair deficiency (CMMRD).MethodsA database search in the hospital information system of the University Children’s Hospital Augsburg between 2017 and 2020 ascertained patients with International Classification of Diseases-10 code Q85.0; their clinical phenotype was evaluated by retrospective chart review.ResultsA total of 75 patients were identified (median age 11.0 years [range 1.1-22.6 years]; 35 female). At first suspicion of NF1, 44 patients met the NIH criteria and 56 met the revised diagnostic criteria. In total, 12 patients were diagnosed with NF1 after performing molecular genetic testing. In 31 patients, only pigmentary findings were present, whereas nonpigmentary NF1 manifestations presented with time in 9 patients. In 1 patient a heterozygous variant of uncertain significance was identified in SPRED1. Requirements for CMMRD testing were fulfilled in another patient. A total of 3 patients presented with segmental clinical findings. Three additional patients did not meet the NIH criteria, 1 of them presented with 1 additional feature of CMMRD without fulfilling requirements for testing.ConclusionIn our pediatric cohort, the revised diagnostic criteria discovered more patients with proven NF1 than the NIH criteria.     

Association of mast-cell-related conditions with hypermobile syndromes: a review of the literature

Ehlers–Danlos syndrome (EDS) is a group of related connective tissue disorders consisting of 13 subtypes, each with its own unique phenotypic and genetic variation. The overlap of symptoms and multitude of EDS variations makes it difficult for patients to achieve a diagnosis early in the course of their disease. The most common form, hypermobile type EDS (hEDS) and its variant, hypermobile spectrum disorder (HSD), are correlated with rheumatologic and inflammatory conditions. Evidence is still needed to determine the pathophysiology of hEDS; however, the association among these conditions and their prevalence in hEDS/HSD may be explained through consideration of persistent chronic inflammation contributing to a disruption of the connective tissue. Aberrant mast cell activation has been shown to play a role in disruption of connective tissue integrity through activity of its mediators including histamine and tryptase which affects multiple organ systems resulting in mast cell activation disorders (MCAD). The overlap of findings associated with MCAD and the immune-mediated and rheumatologic conditions in patients with hEDS/HSD may provide an explanation for the relationship among these conditions and the presence of chronic inflammatory processes in these patients. It is clear that a multidisciplinary approach is required for the treatment of patients with EDS. However, it is also important for clinicians to consider the summarized symptoms and MCAD-associated characteristics in patients with multiple complaints as possible manifestations of connective tissue disorders, in order to potentially aid in establishing an early diagnosis of EDS.

     

Spectrum of mucocutaneous,ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

Classical Ehlers‐Danlos syndrome (cEDS) is characterized by marked cutaneous involvement, according to the Villefranche nosology and its 2017 revision. However, the diagnostic flow‐chart that prompts molecular testing is still based on experts’ opinion rather than systematic published data. Here we report on 62 molecularly characterized cEDS patients with focus on skin, mucosal, facial, and articular manifestations. The major and minor Villefranche criteria, additional 11 mucocutaneous signs and 15 facial dysmorphic traits were ascertained and feature rates compared by sex and age. In our cohort, we did not observe any mandatory clinical sign. Skin hyperextensibility plus atrophic scars was the most frequent combination, whereas generalized joint hypermobility according to the Beighton score decreased with age. Skin was more commonly hyperextensible on elbows, neck, and knees. The sites more frequently affected by abnormal atrophic scarring were knees, face (especially forehead), pretibial area, and elbows. Facial dysmorphism commonly affected midface/orbital areas with epicanthal folds and infraorbital creases more commonly observed in young patients. Our findings suggest that the combination of ≥1 eye dysmorphism and facial/forehead scars may support the diagnosis in children. Minor acquired traits, such as molluscoid pseudotumors, subcutaneous spheroids, and signs of premature skin aging are equally useful in adults.     

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Type V collagen mutations are associated with classic Ehlers–Danlos Syndrome (EDS), but it is unknown for which proportion they account and to what extent other genes are involved. We analyzed COL5A1 and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS. In 93 patients, a type V collagen defect was found, of which 73 were COL5A1 mutations, 13 were COL5A2 mutations and seven were COL5A1 null‐alleles with mutation unknown. The majority of the 73 COL5A1 mutations generated a COL5A1 null‐allele, whereas one‐third were structural mutations, scattered throughout COL5A1. All COL5A2 mutations were structural mutations. Reduced availability of type V collagen appeared to be the major disease‐causing mechanism, besides other intra‐ and extracellular contributing factors. All type V collagen defects were identified within a group of 102 patients fulfilling all major clinical Villefranche criteria, that is, skin hyperextensibility, dystrophic scarring and joint hypermobility. No COL5A1/COL5A2 mutation was detected in 24 patients who displayed skin and joint hyperextensibility but lacked dystrophic scarring. Overall, over 90% of patients fulfilling all major Villefranche criteria for classic EDS were shown to harbor a type V collagen defect, which indicates that this is the major—if not only—cause of classic EDS. Hum Mutat 33:1485–1493, 2012. © 2012 Wiley Periodicals, Inc.     

Hypermobile Ehlers–Danlos syndrome: A review and a critical appraisal of published genetic research to date

The Ehlers–Danlos syndromes (EDS) are a collection of rare hereditary connective tissue disorders with heterogeneous phenotypes, usually diagnosed following clinical examination and confirmatory genetic testing. Diagnosis of the commonest subtype, hypermobile Ehlers–Danlos Syndrome (hEDS), relies solely on a clinical diagnosis since its molecular aetiology remains unknown. We performed an up-to-date literature search and selected 11 out of 304 publications according to a set of established criteria. Studies reporting variants affecting collagen proteins were found to be hindered by cohort misclassification and subsequent lack of reproducibility of these genetic findings. The role of the described variants affecting Tenascin-X and LZTS1 is yet to be demonstrated in the majority of hEDS cases, while the functional implication of associated signaling pathways and genes requires further elucidation. The available literature on the genetics of hEDS is scant, dispersed and conflicting due to out-dated nosology terminology. Recent literature has suggested the role of several promising candidate mechanisms which may be linked to the underlying molecular aetiology. Knowledge of the molecular genetic basis of hEDS is expected to increase in the near future through the mainstream use of high-throughput sequencing combined with the updated classification of EDS, and the upcoming Hypermobile Ehlers–Danlos Genetic Evaluation (HEDGE) study.     

The Role of Bone Scintigraphy in the Diagnosis of Rheumatoid Arthritis According to the 2010 ACR/EULAR Classification Criteria

We aimed to investigate the role of bone scintigraphy (BS) in the diagnosis of rheumatoid arthritis (RA) as a supplement to the 2010 American College of Rheumatology (ACR)/European League Against Rheumatism (EULAR) criteria. A total of 156 patients who underwent BS with screening laboratory to confirm RA were enrolled. We divided them into two groups according to the presence of arthritis upon the first physical examination, and evaluated the diagnostic validity of BS as an independent (BS only) or assistant diagnostic tool using the 2010 criteria (BS-assisted). Seventy-five patients had active arthritis (Group I), while the remaining 81 patients did not (Group II). Among them, 56 patients in group I and 5 patients in group II were finally classified as RA. In the group I patients who were eligible for application of the 2010 criteria, the sensitivity of the BS only and BS-assisted diagnosis was not superior to that of the 2010 criteria. However, BS-assisted diagnosis showed high positive prediction values in group I patients with 2010 criteria score < 6 and group II patients. Therefore, BS is still helpful to detect RA even after the introduction of the 2010 criteria, especially among patients who do not satisfy the 2010 criteria as well as those who are ineligible for the 2010 criteria due to dubitable arthritis at clinical presentation.

Graphical Abstract

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Pain in hypermobile Ehlers‐Danlos syndrome: New insights using new criteria

Features of the pain in hypermobile Ehlers‐Danlos syndrome (hEDS) are complex and insufficiently known by clinicians. We enrolled 37 hEDS patients. Disease status was ascertained using revised 2017 International Classification criteria, in the EDS French National Reference Center. Patients were evaluated with a clinical examination, quantitative sensory testing, and validated questionnaires. Thirty‐seven patients were evaluated. Pain had appeared at 10 ± 5 years old and became chronic at 20 ± 9 years old. hEDS was diagnosed at only 24 ± 10 years old. Ninety‐seven percent of them had severe chronic pain, which gradually increased over time in 75% of them. The main location of pain was in joints and predominated in lower limbs. Patients with a generalized presentation of pain had older chronic pain and a higher impact on the affective component. Neuropathic pain was frequent in the most painful joint and associated with heat hypoesthesia. An asymmetric proprioception was found in one third of the patients. A very high rate of attempted suicide was observed. To conclude, pain in hEDS is severe, chronic, and disabling. Sensorial and proprioceptive sensibilities are also affected. Peripheral neuropathic pain is frequent and central sensitization appears to be a key step in the evolution of disease.     

Acute myocardial infarction: an easy diagnosis in general practice?

In the imminent myocardial infarction Rotterdam (IMIR) study, contacts by patients with their general practitioners for symptoms of potential coronary artery disease were registered. Those who had acute myocardial infarction were diagnosed on the basis of the modified World Health Organization criteria, and those with this definite diagnosis were then compared with the initial diagnosis made by the general practitioner at the moment of contact without laboratory assistance.

Of the 1,343 patients included in the study, 93 (seven per cent) had `definite' acute myocardial infarction and another 37 (three per cent) had `possible' acute myocardial infarction according to the diagnostic criteria used.

At the time of contact with the general practitioner 41 (44 per cent) of the 93 patients with definite myocardial infarction were recognized as such by the general practitioner, while in another 31 (33 per cent) the general practitioner diagnosed `imminent' myocardial infarction.

Of the 1,213 patients free of acute myocardial infarction at the time, 40 (three per cent) were incorrectly diagnosed by the general practitioner as having `acute' myocardial infarction.

In the 22 patients who in fact had acute myocardial infarction but in whom the general practitioner did not make this diagnosis at the time, it was found that there was an absence of physical signs and, similarly, in patients who subsequently did not have infarction the presence of physical signs was related to a falsepositive general practitioner diagnosis of myocardial infarction.

In view of the inaccuracy of the general practitioner's provisional diagnosis of acute myocardial infarction, we believe that electrocardiogram and enzyme tests should be carried out systematically in all patients who present to general practitioners with symptoms of potential coronary artery disease. Laboratory support should be readily available and we support the idea of having a special diagnostic service.

     

An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome

Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of evidence compliments clinical practice. This critical review of the literature aims to stimulate lateral thinking about the pathogenesis, diagnosis and management of hEDS. The current international classification of Ehlers Danlos Syndrome introduced stricter diagnostic criteria for hEDS, which bore a blanket category (hypermobility spectrum disorders) for conditions presenting with symptomatic joint hypermobility, but do not match the hEDS diagnostic criteria. One would argue hEDS is another all-encompassing classification for heritable connective tissue disorders and or acquired musculoskeletal conditions without a definitive molecular basis. As scientific research progresses to accommodate validated and or annulled hypotheses, the plethora of unknowns in hEDS continue to challenge healthcare outcomes and care experiences.     

Systemic exertion intolerance disease/chronic fatigue syndrome is common in sleep centre patients with hypersomnolence: A retrospective pilot study

Symptoms of the central disorders of hypersomnolence extend beyond excessive daytime sleepiness to include non‐restorative sleep, fatigue and cognitive dysfunction. They share much in common with myalgic encephalomyelitis/chronic fatigue syndrome, recently renamed systemic exertion intolerance disease, whose additional features include post‐exertional malaise and orthostatic intolerance. We sought to determine the frequency and correlates of systemic exertion intolerance disease in a hypersomnolent population. One‐hundred and eighty‐seven hypersomnolent patients completed questionnaires regarding sleepiness and fatigue; questionnaires and clinical records were used to assess for systemic exertion intolerance disease. Sleep studies, hypocretin and cataplexy were additionally used to assign diagnoses of hypersomnolence disorders or sleep apnea. Included diagnoses were idiopathic hypersomnia (n = 63), narcolepsy type 2 (n = 25), persistent sleepiness after obstructive sleep apnea treatment (n = 25), short habitual sleep duration (n = 41), and sleepiness with normal sleep study (n = 33). Twenty‐one percent met systemic exertion intolerance disease criteria, and the frequency of systemic exertion intolerance disease was not different across sleep diagnoses (p = .37). Patients with systemic exertion intolerance disease were no different from those without this diagnosis by gender, age, Epworth Sleepiness Scale, depressive symptoms, or sleep study parameters. The whole cohort reported substantial fatigue on questionnaires, but the systemic exertion intolerance disease group exhibited more profound fatigue and was less likely to respond to traditional wake‐promoting agents (88.6% versus 67.7%, p = .01). Systemic exertion intolerance disease appears to be a common co‐morbidity in patients with hypersomnolence, which is not specific to hypersomnolence subtype but may portend a poorer prognosis for treatment response.     

Some children with growing pains may actually have restless legs syndrome

STUDY OBJECTIVES: Growing pains may be an important clue to the diagnosis of childhood restless legs syndrome (RLS). However, there are no previous studies to determine whether a subpopulation of children with growing pains meet the diagnostic criteria for RLS. The purpose of this study is to determine if some children with growing pains meet diagnostic criteria for RLS and to compare the polysomnographic characteristics of these children to controls. DESIGN/PARTICIPANTS/MEASUREMENTS: Eleven children from a pediatric neurology clinic with an emphasis on attention-deficit/hyperactivity disorder (ADHD) and with a diagnosis of growing pains were referred. They were interviewed with the parent to determine if their symptoms of growing pains met criteria for definite RLS. Those who met clinical criteria for RLS underwent polysomnography, and the results of their polysomnographic studies were compared to those of a control group (10 children, mean age 9.7 years). SETTING: Academic medical center. RESULTS: Ten (mean age 10.4 years) of the 11 children with growing pains met clinical criteria for RLS. In 4 of 8 families of these 10 children, 1 parent had RLS. Six of the 10 children had ADHD. There were no differences in the polysomnographic findings between the growing-pain and control groups, and none of the children with RLS had what is considered to be a clinically significant number of periodic limb movements of sleep. There were no differences in the polysomnographic findings between the "growing-pain ADHD" and "growing-pain non-ADHD" subgroups. The growing pains were severe enough for the patients and family to ask for treatment in 4 cases, and carbidopa/levodopa was utilized. CONCLUSIONS: Some children diagnosed with growing pains meet diagnostic criteria for RLS, and a family history of RLS is common in these children. In some cases symptoms are severe enough to warrant treatment.     

Multicenter study of the clinical features and mutation gene spectrum of Chinese children with Dent disease

Dent disease is a rare X-linked recessive inherited tubular disease. In this multicenter study, the clinical presentation and genetic background of Chinese children with Dent disease are studied to improve the cognition and diagnostic ability of pediatricians. In this prospective cohort, we described the genotype and phenotype of a national cohort composed of 45 pediatric probands with Dent disease belonging to 45 families from 12 different regions of China recruited from 2014 to 2018 by building up the multicenter registration system. The CLCN5 gene from 32 affected families revealed 28 different mutations. The OCRL gene from 13 affected families revealed 13 different mutations. The incidence of low-molecular-weight proteinuria (LMWP) in both Dent disease type 1 populations and Dent disease type 2 populations was 100.0%; however, the incidence of other manifestations was not high, which was similar to previously reported data. Therefore, LMWP is a key clinical feature that should alert clinicians to the possibility of Dent disease. A high amount of LMWP combined with positive gene test results can be used as the diagnostic criteria for this disease. The diagnostic criteria are helpful in reducing the missed diagnosis of this disease and are beneficial for protecting the renal function of these patients through early diagnosis and early intervention.     

Early identification of dementia: predictive validity of the clock test.

Various clock scoring procedures have been developed in recent years as dementia screening measures. The current longitudinal study was developed to assess the predictive validity of the Clock Test (Tuokko, Hadjistavropoulos, Miller, Horton, & Beattie, 1995). Within a sample of subjects who initially did not meet dementia criteria, Clock Test scores (drawing, setting, and reading) distinguished between those who later met criteria for dementia as compared to subjects who did not. When impaired performance was identified as falling below cut-off on two or more subtests of the Clock Test, sensitivity and specificity were found to be 91% and 95% relative to time two diagnosis. Clock errors among the current sample were compared against normal control subjects from the Canadian Study of Health and Aging (CSHA). These comparative analyses attest to the relative normality of the clinic sample at the time of their initial assessment.     

Successful conservative management of Boerhaave's syndrome with late presentation

In this report, we describe the diagnostic, clinical and therapeutic aspects of a 22-year-old man who was diagnosed with a case of Boerhaave's syndrome (BS) 86 hours after acute onset of chest pain and dyspnea following forceful vomiting due to excessive ingestion of alcohol. Early diagnosis and prompt treatment is critical in BS due to the high mortality rates related to delay in diagnosis. We think the main criterion of prognosis is not only the free interval between diagnosis and treatment but the clinical form. We suggest conservative management, including intrathoracic lavage and close monitoring in patients with late presentation with a distal esophageal tear.     

Clinical Features and Outcomes of Microscopic Polyangiitis in Korea

Microscopic polyangiitis (MPA) is a systemic vasculitis affecting small vessels. To determine the clinical features and outcomes of MPA in Korean patients, we retrospectively reviewed the medical records of patients diagnosed with MPA at a single medical center in Korea between 1989 and 2006. The 18 patients who met the Chapel Hill criteria for MPA had a mean (±SD) age at the time of diagnosis of 62.4±12.7 yr. Renal manifestations and general symptoms were the most common features of MPA, with lung involvement also very common. Antineutrophil cytoplasmic antibodies (ANCA) were present in 17 of the 18 patients (94%). Of 17 patients treated with steroids and cyclophosphamide, 11 (65%) had stable or improved course. One patient treated with steroids without cyclophosphamide showed disease progression. Ten of the 18 patients (56%) died at a median follow-up of 8 months. MPA in Korean patients was distinguished by a higher rate of lung involvement, especially alveolar hemorrhage, which was the leading cause of death in our patients. Korean patients were also older at MPA onset and were more likely positive for ANCA. Other overall clinical manifestations did not differ significantly.