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 ; ;

BACKGROUND: Polyangiitis overlap syndrome (POS),a systemic vasculitis not classifiable into well-defined syndromes, is  diagnosed based on combined characteristics of two or more primary systemic vasculitides, such as Takayasu arteritis  and anti-neutrophil cytoplasmic antibody (ANCA)-associated  vasculitis  (AAV), but not two AAVs. Our objective is to   present such,   with associated  multiple  infections.
CASE: A  25-year-old  Filipino  female  had  six  years  of  recurrent  purpura,  debilitating  joint  pains,  hemoptysis,  rhinorrhea, epistaxis, eye redness, dyspnea,  and  abdominal  cramps. She was cachectic, had oral ulcers, bibasal  crackles,  polyarthritis,  and  generalized  purpura.   Work-up   showed   anemia,   eosinophilia  excluding   parasitism,   elevated inflammatory markers, and  positive cytoplasmic (c)-ANCA and anti-proteinase 3. There   was   chronic sinusitis on rigid rhinoscopy, middle to lower lung field  interstitial   infiltrates   on   radiographs, pulmonary vasculitis   on  chest   CT,   moderate pulmonary hypertension on  echocardiography,  but  normal  spirometry.  Skin  biopsy  showed  leukocytoclastic vasculitis without  necrotizing  granulomas.Serology showed chronic hepatitis B infection.   Pseudomonas  aeruginosa and  methicillin-resistant Staphylococcus  aureus  grew  from  bronchial  washings and   nasal   swabs,   respectively. ASO titer was high. Human  immunodeficiency  virus  infection  was  ruled  out.  She   was   diagnosed with POS,with features of two AAVs- limited granulomatosis   with   polyangiitis   (GPA)   and   Churg-Strauss   syndrome  (CSS), associated with   multiple  infections,   and  was  given naproxen and culture-guided   antibiotics  (ciprofloxacin, clindamycin, penicillin),with partial resolution of symptoms.  Prednisone   10  mg once  a  day (OD)  was   started  two weeks   after hepatitis B reactivation prophylaxis   with   lamivudine 100mg OD. Complete   resolution of skin lesions and upper airway symptoms and    inflammatory  marker  improvement  were observed after 12  weeks. She is  maintained on prednisone   5.0   mg   daily.
CONCLUSION AND RECOMMENDATIONS: This   is   the   first   reported   case   of   POS   involving   two   AAVs   -   limited   GPA   and   incomplete   CSS,   associated   with   multiple   pathogens.Identifying  POS  is  important;    inability to  classify patients  into well-recognized  vasculitic  syndromes  delays  treatment.  The  infections likely  perpetuated   the   vasculitis,  and  both antimicrobials  and  immunosuppression were  necessary  to  induce   disease   remission

Human ; Female ; Adult ; Churg-strauss Syndrome ; Methicillin-resistant Staphylococcus Aureus ; Pseudomonas Aeruginosa ; Hepatitis B, Chronic ; Takayasu Arteritis ; Granulomatosis With Polyangiitis ; Wells Syndrome

BACKGROUND: Amenorrhea may occur in patients with lupus treated with cyclophosphamide. This is commonly attributed to primary ovarian failure leading to infertility -- a possible complication of cyclophosphamide. Urogenital tuberculosis (TB) can be a rare cause of amenorrhea and infertility in lupus patients.
OBJECTIVE: To present a case of endometrial TB causing amenorrhea and abnormal uterine bleeding in a patient with lupus nephritis treated with cyclophosphamide.
CASE: A 32-year-old Filipino female, who was diagnosed with lupus nephritis, was managed with high dose steroid and intravenous (IV) cyclophosphamide. Lupus nephritis improved with treatment, but she subsequently developed amenorrhea and vaginal spotting for two months. Symptoms were initially attributed to premature ovarian failure due to cyclophosphamide.Gynecologic examination showed thickened endometrium with normal ovaries and uterus on ultrasound. Dilatation and curettage was performed. Histopathology of endometrial curetting revealed chronic granulomatous endometritis with Langhans giant cells. Endometrial TB was diagnosed, and anti-Koch's therapy was started. The patient showed a favourable response, with resumption of normal menstruation after only the first month of treatment.
CONCLUSION: This paper emphasizes the importance of considering a wide range of differential diagnosis for gynecologic symptoms in patients with lupus. Tuberculosis should be considered in areas of high endemicity

Human ; Female ; Adult ; Primary Ovarian Insufficiency ; Lupus Nephritis ; Endometritis ; Amenorrhea ; Giant Cells, Langhans ; Cyclophosphamide ; Menopause, Premature ; Tuberculosis, Urogenital ; Infertility ; Uterine Hemorrhage

A 50-year-old female presented with rash and multi-organ toxicity after intake of several antibiotics. This unmasked an elderly-onset, non-drug-induced seronegative systemic lupus erythematosus (SLE)which was confirmed by lupus band test (LBT)and skin biopsy staining. This patient presented with the rare combination of drug-induced hypersensitivity syndrome (DIHS)and SLE.

Human ; Female ; Middle Aged ; Humans ; Aged ; Female ; Anti-bacterial Agents ; Lupus Erythematosus, Discoid ; Lupus Erythematosus, Systemic ; Drug Hypersensitivity Syndrome ; Skin ; Exanthema ; Biopsy ; Staining And Labeling

A 42-year-old male was admitted at the University of the Philippines-Philippine General Hospital (UP-PGH) for a 3-month history of non-healing wound in the medial side of his right leg in spite of multiple antibiotics. The wound worsened with multiple ulcerations and draining sinuses. The wound was shown to have suppurative and granulomatous infiltrates that yielded Mycrobacterium tuberculosis. An algorithm in the approach to a chronic or non-healing wound is discussed.

Human ; Male ; Adult ; Hospitals, General ; Anti-bacterial Agents ; Suppuration ; Tuberculosis ; Communicable Diseases ; Lower Extremity