OBJECTIVES: In the connective tissue disease patients, esophageal dysfunction is often closely associated with the presence of Raynaud's phenomenon. But there are no previous reports concerning the values of esophageal manometry in the connective tissue disease with Raynaud s phenomenon in Korea. Therefore, we performed this study to evaluate esophageal function in connective tissue disease with Raynaud' s phenomenon. METHODS: Total 86 subjects were employed in this study including 30 normal control group, 14 mixed connective tissue disease(MCTD), 21 systemic sclerosis, 16 systemic lupus erythematosus(SLE), and 5 Raynaud s phenomenon only. In each subject, esophageal manometric study was performed with lower compliance capillary infusion system. RESULTS: The mean age(+SD) of patients and controls were as follows : MCTD 34.1(+8.9), systemic sclerosis 44.9(+9. 3), SLE 32. 1(+7.9), and normal controls 31. 9 (+ 5. 3). All patients with MCTD and systemic sclerosis had Raynaud s phenomenon. Twelve out of 14 patients with MCTD, 17 out of 21 patients with systemic sclerosis, were abnormal in esophageal manometry. Nine out of 16 SLE had Raynaud s phenomenon. Among 9 SLE with Raynaud s phenomenon, 5 patients(55.5%) were abnormal in esophageal manometry, and among 7 SLE without Raynaud's phenomenon, 2 patients (28. 6%) were abnormal in esophageal manometry. Among 5 patients with Raynaud's phenomenon, 3 patients were abnormal in esophageal manometry. Abnormal esophageal manometry finding is more common in the connective tissue disease patients with Raynaud's phenomenon compared with the patients without Raynaud's phenomenon (P=O. 0219). CONCLUSIONS: Abnormal esophageal manometry finding is more common in the connective tissue disease patients with Raynauds phenomenon compared with the patients without Raynaud s phenomenon.
Capillaries ; Compliance ; Connective Tissue ; Connective Tissue Diseases ; Humans ; Korea ; Manometry ; Mixed Connective Tissue Disease ; Scleroderma, Systemic

No abstract available.
Antibodies, Antiphospholipid* ; Antiphospholipid Syndrome* ; Mixed Connective Tissue Disease*

MCTD (Mixed Connective Tissue Disease) is a rare disease characterized by clinical characteristics of patients with overlapping features of SLE (systemic lupus erythematosus), SS (systemic sclerosis), and PM (polymyositis), and serologically characterized by high titers of Anti U1 RNP Ab. At early stage, finger swelling or Raynaud's phenomenon with high titers of Anti U1 RNP Ab are only apparent. Proteinuria and membranous nephropathy are characteristic renal manifestation of MCTD. Recently we had the opportunity to observe patient with Raynaud's phenomenon, finger swelling, high titers of Anti U1 RNP Ab, and asymptomatic proteinuria who underwent a renal biopsy. The patient was diagnosed as early MCTD and renal histology revealed membranous nephropathy. Our purpose is to report this patient and to review the literature.
Biopsy ; Connective Tissue ; Fingers ; Glomerulonephritis, Membranous ; Humans ; Mixed Connective Tissue Disease* ; Proteinuria ; Rare Diseases

The occurrence of a trigeminal neuropathy associated with connective tissue disease is rare. Trigeminal neuropathy in connective tissue disease is predominantly sensory and it is characterized by numbness, hypesthesia, slurred speech, and touch pain. Although the pathogenesis of trigeminal neuropathy associated with connective tissue disease remains obscure, the main pathologic findings are vasculitis and neuritis. A case of trigeminal neuropathy associated with mixed connective tissue disease is described, and the incidence, symptoms, pathophysiology, treatment of the disease is discussed.
Connective Tissue Diseases ; Hypesthesia ; Incidence ; Mixed Connective Tissue Disease* ; Neuritis ; Trigeminal Nerve Diseases* ; Vasculitis

Scalp involvements occur in 30-60% of patients with chronic cutaneous lupus erythematosus (CCLE), and may result in irreversible cicartricial alopecia due to follicular destructions. The pathogenesis of CCLE is consiclered to be multifactorial; relevant factors would be immunogenetic, hormonal, and environmental ir fluences. Perhaps, the immunogenetic factors may be more important. We report a case of two sisters who had superficial scarring alopecia on the scalp, in the constitutions of underlying mixed connective tissue disease (MCTD) and undifferentiated connective tissue syndrome (UCTS), respectively. This sister-CCLE case is regarded to be the first report among familial CCLE in Korea.
Alopecia ; Cicatrix ; Connective Tissue ; Constitution and Bylaws ; Humans ; Immunogenetics ; Korea ; Lupus Erythematosus, Cutaneous* ; Mixed Connective Tissue Disease ; Scalp ; Siblings*

OBJECTIVE: To investigate the diagnosis and treatment of mixed connective tissue disease (MCTD) and myeloperoxidase-antineutrophil cytoplasmic antibody (MPO-ANCA) associated vasculitis, which is a rare clinical entity in medical practice. METHODS: A 35-year-old female of Asian origin was admitted to our hospital due to complaints of Raynaud's phenomenon, myalgia, arthralgia and fatigue. The patient was diagnosed as MCTD in the out-patient department 8 months prior to admission based on Alarcon-Segovia classification criteria of Raynaud's phenomenon, myalgia, arthralgia and a high anti-U1 ribonucleoprotein antibody level. Interstitial lung disease was determined by chest computed tomography. Renal biopsy was performed because of marked proteinuria on 24 h urine collection. Histopathological examination revealed glomerulonephritis with fibrocellular/cellular crescents, in which moderate staining of IgM was shown by direct immunofluorescence. She was tested positive for myeloperoxidase antineutrophil cytoplasmic antibody. RESULTS: High dose of methylprednisolone (500 mg/d for 3 days) was started intravenously when the results of renal biopsy were obtained. Oral prednisone and intravenous cyclophosphamide therapy (0.8 g/month) were continued for 12 months. Daily urinary protein loss decreased dramatically and serum creatinine was maintained at a normal level. CONCLUSION Corticosteroids and cyclophosphamide are effective in the treatment of MPO-ANCA associated glomerulonephritis in MCTD.
Adult ; Antibodies, Antineutrophil Cytoplasmic ; Cyclophosphamide ; Female ; Glomerulonephritis ; Humans ; Methylprednisolone ; Mixed Connective Tissue Disease ; Peroxidase ; Proteinuria

BACKGROUND: Mixed connective tissue disease (MCTD) is a distinct autoimmune disease with overlapping features of different connective tissue diseases and a broad spectrum of presentation and prognosis. Our aim is to present the clinical profile of a cohort of Filipinos with MCTD.
METHODS: Charts with diagnosis of MCTD based on the Alarcon-Segovia Criteria from the Philippine General Hospital Adult Rheumatology clinic from January 1999 to December 2011 were reviewed for demographics, clinical presentation, and management. Descriptive statistics were applied.
RESULTS: Fourteen patients were identified to have MCTD. All were females. The median age at symptom onset, and at diagnosis, was 30.5, and 31.5 years, respectively, with two having juvenile onset of symptoms. Mean interval from symptom onset to diagnosis is two years. Patients are being followed up for the past mean of 3.5 years.All eight women    who wanted children were able to conceive, and among them only two had fetal losses but were negative for antiphospholipid antibodies. Chief complaint was most commonly joint pain (67%) followed by skin tightness (13%). Systemic lupus erythematosus (SLE) was the most frequent initial diagnosis (43%). Majority had initial constitutional symptoms with generalized weakness and fatigue being the most frequent (93%). Most common physical findings in different body systems are as follows: musculoskeletal - arthritis (100%); vascular - Raynaud's phenomenon (93%); cutaneous- skin tightness (71%); gastrointestinal - dental caries (57%); hematologic - anemia of chronic disease (50%); cardiopulmonary - accentuated pulmonary component of the second heart sound and right ventricular hypertrophy (21% each); neurologic - peripheral neuropathy (21%); renal - proteinuria (21%); endocrine - autoimmune thyroiditis (21%).Half have anemia of chronic disease. Only three (21%) have proteinuria and were below nephrotic range. Twelve out of 12 have elevated sedimentation rates. For serologic studies, all have speckled ANA  and very  high  titers  of  anti-U1RNP;six of six patients have  normal  rheumatoid  factor(RF) titers; one    out    of  two  have  positive  anti-Ro;two out of four have anti-Ds DNA; none of two have anti-SCL70.Majority of the chest x-rays,electrocardiograms,echocardiographs  were  normal.Three have pulmonary hypertension. One out of four has restrictive lung disease on pulmonary function test. Most are in remission and are on low-dose prednisone (79%), hydroxychloroquine (50%), nifedipine (36%) and methotrexate (21%).
CONCLUSION: This is the first study that detailed clinical and laboratory features of Filipinos with MCTD diagnosed using the Alarcon-Segovia criteria. Most clinical features, disease activity, and management are concordant with international data. Possible peculiarities include fewer interstitial lung disease, esophageal dysmotility, thrombocytopenia and leucopenia, and RF titers. We intend to add newly diagnosed patients and pursue this cohort for us to better understand the course of MCTD in Filipinos that could translate to better patient care.

Human ; Female ; Adult ; Mixed Connective Tissue Disease ; Hydroxychloroquine ; Hypertrophy, Right Ventricular ; Thyroiditis, Autoimmune ; Lupus Erythematosus, Systemic ; Antibodies, Antiphospholipid ; Raynaud Disease ; ;

OBJECTIVE: Mixed connective tissue disease(MCTD) was first described by Sharp and coworkers in 1972 as distinct rheumatic diseases characterized by the overlapping features of systemic lupus erythematosus (SLE), systemic sclcrosis (SSc) and dermatomyositis/polymyositis and associated with the serologic marker anti-nRNP antibody at high titer. METHODS: We reviewed 18 cases(all females) of MCTD who were admitted or visited to rheumatism center of Hanyang University Hopital, from October 1989 to September 1992. RESULTS: 1) The average age at onset of MCTD was 38.6 years. The average duration of the disease was 5.3 years. 2) Raynaud's phenomenon was found in 100%. Arthritis was found in 13 cases but rheumatoid factor was found in 15 cases. 3) Hand swelling was found in 15 cases and myositis was found in 56% (10 cases). 4) All patients with MCTD have anti-nRNP antibodies by high titer. In general, the titer does not correlate with disease activity. CONCLUSIONS: These data suggested that the clinical features of MCTD in Korean patients revealed similar to those of previous reports regarding foreign ethnic groups.
Antibodies ; Arthritis ; Connective Tissue ; Ethnic Groups ; Hand ; Humans ; Korea* ; Lupus Erythematosus, Systemic ; Mixed Connective Tissue Disease* ; Myositis ; Rheumatic Diseases ; Rheumatoid Factor

Raynaud's phenomenon associated with connective tissue disease (Raynaud`s syndrome) may be difficult to manage with conservative therapy, and no gold standard therapy currently exists. Raynaud's syndrome can cause digital ulcer and necrosis, digital amputation is inevitable in some patients. Spinal cord stimulation seems to be an effective treatment for ischemic vascular disease, although little is known about the mechanisms of this effect. We present here a case for which cervical spinal cord stimulation was used to treat a digital ulcer and the intractable digital pain in a 60-year-old male patient who had severe Raynaud's syndrome. The patient had Raynaud's phenomenon associated with mixed connective tissue disease for 10 years. Three years before visiting our clinic, he underwent amputation at the second and third distal phalanges of his right hand because of digital necrosis. Two months after spinal cord stimulator implantation, his pain significantly improved from 100/100 mm VAS to 0/100 mm and the function of his hands noticeably improved.
Amputation ; Connective Tissue Diseases ; Hand ; Humans ; Male ; Middle Aged ; Mixed Connective Tissue Disease ; Necrosis ; Spinal Cord ; Spinal Cord Stimulation ; Ulcer ; Vascular Diseases

Although hepatomegaly is reported to occur occasionally in patients with mixed connective tissue disease (MCTD) or Sjogren's syndrome (SS), autoimmune liver diseases such as primary biliary cirrhosis, sclerosing cholangitis, and autoimmune hepatitis in association with MCTD or SS have rarely been described. We report a case of severe cholestatic autoimmune hepatitis presenting with acute liver failure in a 40-yr-old female patient suffering from MCTD and SS. The diagnosis of MCTD and SS was made at the age of 38. The patient presented severe jaundice and elevation of conjugated bilirubin. The patient denied alcohol and drug use and had no evidence of viral hepatitis. On the 8th day of her hospitalization, the patient developed grade III hepatic encephalopathy. She was diagnosed as autoimmune hepatitis presenting with acute liver failure based on clinical features, positive FANA and anti-smooth muscle antibodies, negative anti-mitochondrial antibodies, high titers of serum globulin, liver biopsy findings, and a good response to corticosteroid therapy, The patient was managed with prednisolone and the clinical symptoms, liver function test results, and liver biopsy findings showed much improvement after steroid therapy.
Adult ; Cholestasis/*etiology ; Female ; Hepatitis, Autoimmune/*etiology ; Human ; Liver Failure, Acute/*etiology ; Mixed Connective Tissue Disease/*complications ; Sjogren's Syndrome/*complications