The autoimmune polyglandular syndromes (APS) are groups of syndromes comprising a combination of endocrine and nonendocrine autoimmune diseases. Among of those four types of APS, the main characteristics of the 3 APS are autoimmune thyroid diseases associated to other autoimmune diseases, excluding Addison's disease. Type 3 APS are also subdivided into 3A, 3B, 3C, and 3D. Recently, we experience a case of APS manifesting 3A, 3C, and 3D subtype. A 28-year-old woman developed type I diabetes. According to her medical history, she had Graves' disease, vitiligo, auimmune hemolytic anemia and systemic lupus erythematosus (SLE). The antoantibodies associated with Graves' disease, SLE, and type I diabetes showed positive findings. We report this case with literatures review.
Addison Disease ; Adult ; Anemia, Hemolytic ; Autoimmune Diseases ; Female ; Graves Disease ; Humans ; Lupus Erythematosus, Systemic ; Thyroid Diseases ; Vitiligo

PURPOSE: Autoimmunity is an alternative etiology of gastric inflammation, the initiating event in the gastric carcinogenic cascade. This mechanism may be an increasingly important cause of gastric cancer with the waning prevalence of its primary etiologic factor, chronic Helicobacter pylori infection. MATERIALS AND METHODS: PubMed and EMBASE were searched up to September 2018. Autoimmunity and 96 specific manifestations were considered for associations with gastric cancer risk. Random effects analysis was used to calculate pooled relative risk estimates (RR) and 95% confidence intervals (CI). RESULTS: We found a total of 52 observational studies representing 30 different autoimmune diseases. Overall, the presence of an autoimmune condition was associated with a gastric cancer pooled RR of 1.37 (95% CI, 1.24 to 1.52). Among the 24 autoimmune conditions with two or more independent reports, nine were significantly associated with increased gastric cancer risk: dermatomyositis (RR, 3.69; 95% CI, 1.74 to 7.79), pernicious anemia (RR, 2.84; 95% CI, 2.30 to 3.50), Addison disease (RR, 2.11; 95% CI, 1.26 to 3.53), dermatitis herpetiformis (RR, 1.74; 95% CI, 1.02 to 2.97; n=3), IgG4-related disease (RR, 1.69; 95% CI, 1.00 to 2.87), primary biliary cirrhosis (RR, 1.64; 95% CI, 1.13 to 2.37), diabetes mellitus type 1 (RR, 1.41; 95% CI, 1.20 to 1.67), systemic lupus erythematosus (RR, 1.37; 95% CI, 1.01 to 1.84), and Graves disease (RR, 1.27; 95% CI, 1.06 to 1.52). CONCLUSION: Our analysis documents the wide range of autoimmune diseases associated with gastric cancer. These associations may reflect unreported links between these conditions and autoimmune gastritis. Further studies are warranted to investigate potential causal mechanisms.
Addison Disease ; Anemia, Pernicious ; Autoimmune Diseases ; Autoimmunity ; Dermatitis Herpetiformis ; Dermatomyositis ; Diabetes Mellitus ; Epidemiology ; Gastritis ; Graves Disease ; Helicobacter pylori ; Inflammation ; Liver Cirrhosis, Biliary ; Lupus Erythematosus, Systemic ; Prevalence ; Stomach Neoplasms

Rituximab is a chimeric monoclonal antibody for human B lymphocyte subset CD20 and has recently been used for treatment of autoimmune disease such as rheumatoid arthritis and systemic lupus erythematosus (SLE). We report the experiences of rituximab treatment in two patients with severe SLE. The first case is 16-year-old female patient with hemolytic anemia, thrombocytopenia and acute renal failure due to aggravation of lupus nephritis, and the second case is 30-year-old female pregnant patient with diffuse alveolar hemorrhage after preterm premature rupture of fetal membranes. All two patients responded to rituximab and maintained symptom free state.
Acute Kidney Injury ; Adolescent ; Adult ; Anemia, Hemolytic ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Female ; Fetal Membranes, Premature Rupture ; Hemorrhage ; Humans ; Lupus Erythematosus, Systemic* ; Lupus Nephritis ; Lymphocyte Subsets ; Pregnancy ; Rituximab ; Thrombocytopenia

Thrombotic thrombocytopenic purpura (TTP) is a blood coagulation disorder that damages numerous organs, including the kidney, heart and brain. Features indicative of TTP include thrombocytopenia, microangiopathic hemolytic anemia, neurologic symptoms, kidney failure and fever. Infections, toxins, pregnancy and, rarely, autoimmune diseases are all known to be associated with TTP. We encountered a rare case of rheumatoid arthritis accompanied by TTP following tympanoplasty. The patient's confusion, thrombocytopenia and renal failure all improved after plasmapheresis and high-dose glucocorticoid therapy, but she eventually expired due to sepsis. We report on this case herein and also review the relevant literature.
Anemia, Hemolytic ; Arthritis, Rheumatoid* ; Autoimmune Diseases ; Blood Coagulation Disorders ; Brain ; Fever ; Heart ; Kidney ; Neurologic Manifestations ; Plasmapheresis ; Pregnancy ; Purpura, Thrombotic Thrombocytopenic* ; Renal Insufficiency ; Sepsis ; Thrombocytopenia ; Tympanoplasty

Graves disease, an autoimmune endocrine disorder, which causes defects in cellular and humoral immunity, is associated with insulin-dependent diabetes mellitus, Addisons disease, pemicious anemia, and rheumatoid arthritis. Graves disease is associated with various neuro-muscular disorders, such as myopathy, exophalmous oculopathy, periodic paralysis, myastenia gravis and rarely Guillain-Barre syndrome. Guillain-Barre syndrome is considered as an autoimmune disease which can occur concurrently with other autoimmune disorders. This syndrome is characterized by segmental demyelination and axonal degeneration in electrophysiology due to autoantibody to nervous systems via cellular and humoral autoimmunity. In Graves disease, the exact mechanism of the associated Guillain-Barre syndrome is not well understood but it is considered that the autoimmunity is the leading cause of development of both diseases. A 37 year-old man had suffered from thyrotoxic symptoms and progressive symmetrical muscular paralysis. In nerve conduction velocity studies, the result shows peripheral neuropathy; axonopathy; myelinopathy; motor nerve and sensory nerve derangement; right first sacral nerve neuropathy; and decreased CMAP amplitude. The patient was treated with propylthiouracil and high dose intravenous immunoglobulin (400mg/kg/day for Sdays). He responded to the therapy well and became euthyroid state with improvement of muscle weakness. We report a case of Graves' disease associated with Guillain-Barre syndrome with brief review of literature which shows a possible relationship between both diseases.
Addison Disease ; Adult ; Anemia ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Autoimmunity ; Axons ; Demyelinating Diseases ; Diabetes Mellitus, Type 1 ; Electrophysiology ; Graves Disease* ; Guillain-Barre Syndrome* ; Humans ; Immunity, Humoral ; Immunoglobulins ; Muscle Weakness ; Muscular Diseases ; Nervous System ; Neural Conduction ; Paralysis ; Peripheral Nervous System Diseases ; Propylthiouracil

A 65-year-old woman developed erythema, papules and nodules over the body. Some nodules of her auricles and hands like string beads. Besides, she suffered from symmetrical swelling and pain of multiple joints, morning stiffness with deformity of joints; She had elevated erythrocyte sedimentation rate and C reactive protein levels; Her rheumatoid factor and antinuclear antibody were positive; Joints destruction was found with X-ray imaging; Skin pathology showed Dermal infiltrate of abundant histiocytes, part of them with a ground-glass appearance; A CD68 immunohistochemical stain was positive and the cells were negative for S100, CD1a. These findings were diagnostic evidences of multicentric reticulohistiocytosis (MRH). The patient received high-dose of glucocorticoids combinated with immunosuppressive agents, and achieved a satisfactory effect. MRH was a rare multisystem disease characterized by papulonodular mucocutaneous and destructive arthritis, and its pathogeny was not yet completely understood. The typical lesions of MRH were hard papules or nodules that usually occured on the hands, face and arms. Classic coral bead appearance from periungual cutaneous nodules that were characteristic of MRH. MRH was an inflammatory joint disease, affecting almost all the appendicular joints and characterized by joint multiple, symmetrical, destructive, progressive disability. Joints destruction of the distal interphalangeal joints was a unique feature of MRH. In addition to skin and joints, it could also involve other systems. There were no diagnostic laboratory markers for MRH. Laboratory examinations had often been found to be non-specific. Imageological examination mainly showed bone and joint destruction. Skin biopsy was the best test to diagnose MRH, the typical histopathological findings included an infiltrate with histiocytes and multinucleated giant cells with a ground-glass appearing in eosinophilic cytoplasm, and the immunohistochemical stain was positive for CD68. The diagnosis was typically made based on the clinical presentation, supportive radiographic findings and skin biopsy. MRH was easily possible to mistake for other more common autoimmune conditions, such as rheumatoid arthritis, psoriatic arthritis, osteoarthritis, and dermatomyositis, but the distinctive clinical, radiographic, and histologic features could aid in differentiating these diseases. MRH could mimic other rheumatic diseases, besides, it could also coexist with cancer or other autoimmune disorders. There was no standardized treatment for MRH. However, Nonsteroidal anti-inflammatory drugs, glucocorticoid, Immunosuppressant, biologic medications, and bisphosphonates had been used with varying degrees of curative effect. Treatment with glucocorticoid combined with immunosuppressants were effective for rash and arthritis, early use of them should be strongly considered, and refractory cases could be treated with biological agents. By reporting a MRH case and reviewing literature, this paper aims to help the clinicians improve the understanding of this rare disease, and suggests that when one diagnosis cannot explain the whole picture of the disease, and further evidence should be sought to confirm the diagnosis.
Aged ; Arthritis, Psoriatic ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Humans ; Osteoarthritis ; Radiography

INTRODUCTION: Linear IgA bullous disease (LABD) is a rare autoimmune blistering disease characterized by subepithelial bullae and linear IgA deposition along the basement membrane zone of the epidermis. Lesions present as pruritic papulovesicles and tense bullae which may coalesce forming annular or polycyclic urticarial plaques with blistering on the edge of the lesions forming the classic “string of pearls” sign. Lesions may affect the face, trunk, and extensor extremities. Incidence rates range from 0.5 to 2.3 cases per million individuals per year. Due to its rare occurrence, there are only a fewdocumented reports on cases of LABD, particularly in the Filipino population. CASE REPORT: A 33 year-old Filipino female consulted because of a 3-week history of severely pruritic vesicles and crusts on the face, trunk, and arms. Patient noted no gastrointestinal symptoms on consultation. Skin punch biopsy revealed subepidermal blisters with collection of neutrophils at the dermal papillae. Direct immunofluorescence showed strong (+2) deposits of linear IgA at the dermo- epidermal junction in perilesional skin thus validating the diagnosis. The patient’s serum was negative for IgA anti-tissue transglutaminase and IgA antiendomysial antibodies. Patient was treated with topical corticosteroids and Dapsone 50 mgs OD with remarkable improvement. CONCLUSION: Linear IgA bullous disease has very few reported cases especially in the Philippine setting. Dapsone is considered the first-line treatment. The disease may persist for a decade or longer, and relapses may occur. Careful history-taking accompanied by the histological, immunofluorescence, and serological findings must be done to ensure proper treatment and good prognosis.
Dermatitis Herpetiformis ; Linear IgA Bullous Dermatosis ; Immunoglobulin A

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.
Anemia, Hemolytic ; Anemia, Hemolytic, Autoimmune ; Arthritis ; Autoimmune Diseases ; Cell Membrane ; Child ; Cytoskeletal Proteins ; Erythema Infectiosum ; Humans ; Parvovirus ; Spherocytes ; Spherocytosis, Hereditary

Hereditary spherocytosis (HS) is a genetic disorder characterized by the production and destruction of spherocytes due to a deficiency of red cell membrane cytoskeletal proteins, resulting in the clinical presentation of chronic hemolytic anemia. This disease can be accompanied by an aplastic crisis due to parvovirus B19 infection. Parvovirus B19 infection causes diseases such as erythema infectiosum and arthritis, and can also trigger various autoimmune diseases, including autoimmune hemolytic anemia (AIHA). Here, we report a rare case of AIHA developing 3 months after an aplastic crisis due to parvovirus B19 infection in an 11-year-old boy with HS and provide the relevant literature review.
Anemia, Hemolytic ; Anemia, Hemolytic, Autoimmune ; Arthritis ; Autoimmune Diseases ; Cell Membrane ; Child ; Cytoskeletal Proteins ; Erythema Infectiosum ; Humans ; Parvovirus ; Spherocytes ; Spherocytosis, Hereditary

Turner's syndrome (TS) is characterized by short stature and gonadal dysgenesis. It is often associated with systemic manifestations, such as cardiovascular, gastrointestinal, and musculoskeletal disorders. Although very rare, it is possible for TS to accompany autoimmune disease, including thyroid disease, inflammatory bowel diseases, diabetes mellitus, psoriatic arthritis, and juvenile rheumatoid arthritis. A 39-year-old woman was referred for symmetric polyarthritis of her hands and feet. She had been diagnosed with Turner's syndrome with 46,XO,-X,+fragment before the age of 22 years and had developed autoimmune hypothyroidism treated with thyroid hormone replacement. At the time of first visit, she had polyarthralgia with morning stiffness for more than 3 months. The musculoskeletal examination revealed symmetrical polyarthritis affecting the metacarpophalangeal, proximal interphalangeal, and metatarsophalangeal joints, fulfilling the ACR 1987 revised criteria for rheumatoid arthritis (RA). Here, we present an unusual case of RA associated with TS. It is important to pay meticulous attention to patients with TS so that inflammatory arthritis is not neglected and the diagnosis is not delayed.
Adult ; Arthralgia ; Arthritis ; Arthritis, Juvenile Rheumatoid ; Arthritis, Psoriatic ; Arthritis, Rheumatoid ; Autoimmune Diseases ; Diabetes Mellitus ; Female ; Foot ; Gonadal Dysgenesis ; Hand ; Humans ; Hypothyroidism ; Inflammatory Bowel Diseases ; Metatarsophalangeal Joint ; Thyroid Diseases ; Thyroid Gland ; Turner Syndrome