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Fabry disease is an X-linked lysosomal storage disease, and its pathogenesis is the deficient of α-galactosidase A (α-Gal A) activity caused by GLA mutation, which leads to accumulation of the glycosphingolipid globotriaosylceramide (Gb-3) and other glycosphingolipids in the lysosome of cells, resulting in the dysfunction of relevant tissues and organs. We report the clinical characteristics of a case of Fabry disease with dermatomyositis. The patient, a 61-year-old male, presented with intermittent amaurosis, limb weakness and dyspnea on exertion. Based on the low α-Gal A activity and positive anti-myositis antibodies, diagnosis of Fabry disease with dermatomyositis were confirmed. We reviewed the relevant literature and found that co-existence of Fabry disease and autoimmune diseases was very rare, but it is not rare for patients with Fabry disease to have some autoimmune antibody positive, suggesting that Fabry disease and autoimmune diseases may be related in pathogenesis.
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Objective:To investigate the clinical characteristics of patients with rheumatic diseases and abnormal liver function, as well as determine the proportion and severity of liver function abnormalities.Methods:Cross-sectional study. Data were collected from patients registered in the Chinese Rheumatism Date Center from 2011 to 2021. The rheumatic diseases analyzed in this study were rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), Sjogren syndrome (SS), ankylosing spondylitis (AS), and gout. Patient data, including demographic characteristics [ such as age, sex, body mass index,(BMI), and smoking history], liver function test results [including alanine aminotransferase (ALT), aspartate aminotransferase, alkaline phosphatase(ALP), and total bilirubin], and use of anti-rheumatic immune drugs and liver-protective drugs, were collected and compared between groups with normal and abnormal liver functions. In addition, the proportions of abnormal liver function were compared between sex and age groups.Results:A total of 116 308 patients were included in this study, including 49 659 with RA, 17 597 with SLE, 9 039 with SS, 11 321 with AS, and 28 692 with gout. The lowest proportion of liver function abnormalities was observed in patients with RA[11.02% (5 470/49 659)], followed by those with SS[17.97% (1 624/9 039)] and AS [18.22% (2 063/11 321) ], whereas patients with SLE [21.14% (3 720/17 597) ] and gout [28.73% (8 242/28 692)] exhibited the highest proportion of these abnormalities. Elevated ALT, mostly classified as grade 1, was the most commonly noted liver function abnormality, whereas elevated ALP was the least common. Some patients who took liver-protective drugs had normal liver function, with the lowest percentage observed in patients with gout [7.45% (36/483) ] and ranging from 21.7% to 30.34% in patients with RA, SLE, SS, and AS. The proportion of liver function abnormalities was higher in males than in females for all disease types [RA: 13.8%(1 368/9 906) vs. 10.3%(4 102/39 753); SLE: 33.6% (479/1 424) vs. 20.0% (3 241/16 173); SS: 25.4%(111/437) vs. 17.6%(1 513/8 602); AS: 20.1%(1 629/8 119) vs. 13.6% (434/3 202); and gout: 29.3% (8 033/27 394) vs. 16.1% (209/1 298)]. In RA, SLE, and AS, the proportions of liver function abnormalities were similar across all age groups. In SS, the proportion of liver function abnormalities increased with age [<40 years: 14.9%(294/1 979); 40-59 years: 18.1%(858/4 741); ≥60 years: 20.4%(472/2 319)], whereas a reversal of this trend was observed in gout [<40 years: 34.9%(4 294/12 320); 40-59 years: 25.5%(2 905/11 398);≥60 years: 21.0%(1 042/4 971)].Conclusions:The proportions of combined liver function abnormalities in patients with rheumatologic diseases were high, and the utilization rates of liver-protective drugs were low. It is necessary to pay more attention to monitoring patients′ liver function, timely administer liver-protective drugs, and optimize liver-protective regimens during the treatment of rheumatic diseases.
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Objective:To analyze the clinical characteristics and risk factors of systemic lupus erythematosus (SLE) with Libman-Sacks endocarditis (LSE).Methods:Data of SLE patients with LSE ( n=20) who admitted in Peking Union Medical College Hospital from January 2012 to May 2021 were retrospectively collected. SLE patients without LSE ( n=60) were randomly selected as controls according to 1∶3 age and sex matched in the hospitalized patients during the same period. Clinical characteristics, laboratory and imaging examinations were analyzed. Data were expressed as Mean± SD, and t test was used to compare quantitative data in normal distri-bution. Data were expressed as M ( Q1, Q 3), and Wilcoxon signed-rank test or Wilcoxon rank sum test were used to compare quantitative data in non-normal distribution. The count data were compared with Chi-square test or Fisher's exact test. Univariate conditional logistic regression was used for univariable analyses. P values less than 0.05 were considered statistically significant. Results:There were 20 SLE patients with LSE, 18 females with an average age of (32±9) years (13 to 49 years). The disease duration of SLE was 16.04(0, 185.1) months when LSE was discovered, and vegetations were located at the mitral valve in 19 (95.0%) patients. Cerebral infarction (45.0% vs 10.0%, χ2=9.87, P=0.001) and antiphospholipid syndrome (APS) (50.0% vs 5.0%, χ2=22.32, P<0.001) were more common in SLE with LSE. In addition, SLE with LSE had lower platelet counts [(140±67)×10 9/L vs (189±115)×10 9/L, t=-2.29, P=0.026] and higher positive rate of lupus anticoagulant (LA) (80.0% vs 23.6%, χ2=19.65, P<0.001), lower positive rate of anti-SSA antibodies (21.1% vs 60.0%, χ2=6.38, P=0.012). Left atrial enlargement (anteroposterior diameter of left atrium>40 mm) was more common in SLE patients with LSE (35.0% vs 5.4%, χ2=9.37, P=0.002), and anteroposterior diameter of left atrium [(37±7) mm vs (33±4) mm, t=2.15, P=0.043] were larger and left ventricular ejection fraction [(63±10)% vs (68±6)%, t=-2.41, P=0.019] was lower. The risk of SLE with LSE complicated with APS was 19 times compared with SLE without LSE [ OR (95% CI)=19.00 (4.43, 81.38), P<0.001]. Conclusion:SLE patients with LSE have increased risk of APS and cerebrovascular diseases. For patients with positive LA, the possibility of LSE should be alerted.
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Objective:To analyze the clinical characteristics and risk factors of rheumatic diseases complicated with Pneumomediastinum (PnM).Methods:A retrospective analysis of 94 inpatients with rheumatic diseases associated PnM from Peking Union Medical College Hospital and Shanxi Bethune Hospital between January 1998 and October 2018 was carried out. Patients were divided into idiopathic inflammatory myopathies (IIM) and the non-IIM group. Clinical features, laboratory examinations and treatment were compared between the two groups. Cox proportional hazard model was used to investigate the risk factors for prognosis.Results:A total of 94 patients were included in the study, with an average age of (45±14) years. Forty-five (48%) of them were male. There were 62 patients in the IIM group and the other 32 were in the non-IIM group. Sixty-nine patients had predisposing factors before PnM. Severe cough and assisted mechanical ventilation were the most common causes. Compared with the non-IIM group, the incidence of digital vasculitis (29% vs 6%, χ2=6.540, P=0.008), arthritis (60% vs 28%, χ2=8.409, P=0.004), interstitial lung disease (ILD)(98% vs 78%, χ2=11.129, P=0.002) were higher in the IIM group, treatment with cyclophosphamide was higher in the IIM group ( χ2=4.458, P=0.035). There was non-significant difference in mortality between the two groups during hospitalization (50% vs 59%) and 6 months after PnM (64% vs72%) ( P>0.05). Pulmonary infection was the only risk factor for poor prognosis [ HR=3.131, 95% CI (1.025, 9.561), P=0.045], in which bacteria infection was the most common cause (65/75, 86.7%). Conclusion:PnM is a severe complication of rheumatic diseases. To get a good prognosis, rheumatol-ogists should balance the benefit and risk of infection of immunosuppressive therapy.
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A 78-year-old man was admitted to Peking Union Medical College Hospital with fever, weakness of lower extremities, less speech, loss of memory. Fever was relieved after antibiotic treatment, while cognitive impairment and disorder of consciousness progressed rapidly, followed by critical pulmonary infections, respiratory failure, and septic shock. Lab tests showed negative occult blood, normal serum CEA level and positive Anti-nuclear-antibody. PET-CT suggested that strong FDG uptake signals were seen at sigmoid, while bilateral frontal lobe, temporal lobe, parietal lobe, posterior cingulate gyrus showed lower metabolic activity. Colonoscopy biopsy revealed differentiated adenocarcinoma of sigmoid colon. Therefore, paraneoplastic syndrome of nervous system secondary to colon cancer was considered. Rapid and proper diagnosis and treatment were completed by multidisciplinary team including departments of neurology, gastroenterology, general surgery, ICU, rheumatology, clinical nutrition. The laparoscopic sigmoid colectomy was performed under general anesthesia. The patient finally presented with significant improvement of cognition and consciousness. Respiratory function was totally recovered.
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Objective To summarize the clinical characteristics of patients with connective tissue diseases (CTD) and autonomic neuropathy. Methods The medical records of inpatients with CTD and autonomic neuropathy from 2005 to 2015 were retrospectively analyzed including clinical manifestations, laboratory examinations, treatment and outcome. Categorical data were expressed in percentages. Kolmogorov-Smirnov test was used to examine normal distribution. Continuous data of normal distribution were expressed as x ±s deviation, while data without a normal distribution were described as median and interquartile range (P25, P75). Results Among the nine patients included in this study, all were female, and the median age was 42 years (32~50 years old). Four patients (4/9) were systemic lupus erythematosus (SLE), three patients (3/9) were primary Sj?gren's syndrome (pSS), two patients (2/9) were rheumatic arthritis (RA), and four patients were secondary Sj?gren's syndrome (SS) (two with SLE and two with RA). Five patients (5/9) had autonomic nervous dysfunction before they were diagnosed of CTD, while four patients (4/9) developed autonomic nervous dysfunction after diagnosis of CTD. The most common symptom of autonomic nervous dysfunction was postural hypotension (9 patients, 9/9), followed by hypohidrosis (4 patients, 4/9), urinary retention (2 patients, 2/9), gastrointestinal dysmotility (2 patients, 2/9) and tonic pupil (1 patient, 11%). After treatment of CTD, autonomic symptoms of three patients improved, while the others didn't. Four of the remaining 6 patients improved after receiving other assistant treatments including vasoconstrictor, pyri-dostigmine bromide, and plasma exchange. Conclusion Patients with CTD could present with autonomic neuropathy, which is mainly characterized with postural hypotension. If patients had related symptoms, clinicians should pay more attention to whether CTD exists. If treatment for CTD couldn't improve patients' condition, other assistant treatment might be considered.
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Objective To investigate the changes of major causes of death in patient with dermatomyositis/polymyositis (DM/PM) and the factors affecting the mortality of DM/PM in the past 28 years.Methods Death cases with DM/PM from 1985 to 2013 were retrospectively analyzed.x2 test and Fisher exact test was used for count data analysis;independent samples t-test measurement was used for data analysis;P＜0.05 was consi-dered statistically significant.Results Out of 1 443 patients with DM/PM, 74 died, in whom 48 were female and 26 were male.The mortality rate was 4.7％ among female and 6.3％ among male cases and the total in-hospital mortality of DM/PM was 5.1％.The two most common causes of death in patients with DM/PM were infection and respiratory involvement, accounting for 62.2％ (46/74) and 14.9％ (11/74) respectively.Death occurred most commonly in the first year after disease onset, accounting for 79.7％(59/74).The leading causes of death in the first year were infection and respiratory involvement.The mortality of DM/PM patients was peaked 12.3％(18/146) from 1996 to 2000;infection was the most frequent cause of death.Conclusion Infection and respiratory involvement are the main causes of death in DM/PM.Death occurrs most commonly in the first year after disease onset.
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Objective To explore the prevalence and independent influencing factors of arthritis in Chinese patients with systemic sclerosis(SSc).Methods A total of 248 SSc patients were enrolled in this prospective cross-sectional study in Peking Union Medical College Hospital.Demographic,clinical and laboratory data were compared in arthritis group and non-arthritis group.Results Of 248 Chinese SSc patients,mean age of onset was (37.1 ± 13.7) years old and disease duration was (7.4 ± 5.2) years.Overall prevalence of arthritis was 41.1％ (102/248).The presence of arthralgia(95.1％ vs 15.1％),muscle weakness(38.2％ vs 24.7％),short of breath (60.8％ vs 45.2％),and intestinal lung disease (64.7％ vs 49.3％) occurred more frequently in patients with arthritis than those without arthritis (P ＜0.05).The elevation of C reactive protein,anti-Sm and anti-cyclic citrullinated peptide were more common in arthritis group than in non-arthritis group(61.4％ vs 43.9％,11.4％ vs 2.5％ and 28.1％ vs 2/16,respectively).There were no obvious differences in the Rodnan score,digital ulcers,pulmonary arterial hypertension,and six-minute walk test between two groups(P ＞ 0.05).Conclusion This study reveals the significant prevalence of arthritis in a large cohort of SSc patients in China.Compared to non-arthritis patients,the SSc patients with arthritis have a more severe inflammation reaction and a higher rate of intestinal lung disease.