Whipple's Disease: A Case Report.

Whipple's disease (WD) is caused by Tropheryma whipplei, frequently found in lamina propria's macrophages in the small intestine. It is a rare and chronic systemic infection, and the principal clinical manifestations are diarrhea, weight loss, abdominal pain, and arthralgia. The diagnosis is difficult mainly because of its rarity and should be considered in patients with arthralgias, diarrhea, abdominal pain, and weight loss after more common conditions have been excluded. The laboratory diagnosis is established by a duodenal biopsy. The treatment involves 14 days of intravenous antibiotics with good penetration in the cerebrospinal fluid (i.e., ceftriaxone) and one-year treatment with oral co-trimoxazole. Early diagnosis and proper treatment are crucial because it improves the prognosis. We report the case of a 58-year-old female with skin hyperpigmentation, loss of appetite and weight (16% of body weight in three months), nausea, upper abdominal pain, and diarrhea. Esophagogastroduodenoscopy and colonoscopy were performed to obtain biopsy samples, which, together with laboratory tests and microbiological studies, led to a diagnosis of Whipple's disease.

Biological therapy in systemic lupus erythematosus, antiphospholipid syndrome, and Sjögren's syndrome: evidence- and practice-based guidance.

Systemic lupus erythematosus (SLE), antiphospholipid syndrome (APS), and Sjögren's syndrome (SS) are heterogeneous autoimmune diseases. Severe manifestations and refractory/intolerance to conventional immunosuppressants demand other options, namely biological drugs, and small molecules. We aimed to define evidence and practice-based guidance for the off-label use of biologics in SLE, APS, and SS. Recommendations were made by an independent expert panel, following a comprehensive literature review and two consensus rounds. The panel included 17 internal medicine experts with recognized practice in autoimmune disease management. The literature review was systematic from 2014 until 2019 and later updated by cross-reference checking and experts' input until 2021. Preliminary recommendations were drafted by working groups for each disease. A revision meeting with all experts anticipated the consensus meeting held in June 2021. All experts voted (agree, disagree, neither agree nor disagree) during two rounds, and recommendations with at least 75% agreement were approved. A total of 32 final recommendations (20 for SLE treatment, 5 for APS, and 7 for SS) were approved by the experts. These recommendations consider organ involvement, manifestations, severity, and response to previous treatments. In these three autoimmune diseases, most recommendations refer to rituximab, which aligns with the higher number of studies and clinical experience with this biological agent. Belimumab sequential treatment after rituximab may also be used in severe cases of SLE and SS. Second-line therapy with baricitinib, bortezomib, eculizumab, secukinumab, or tocilizumab can be considered in SLE-specific manifestations. These evidence and practice-based recommendations may support treatment decision and, ultimately, improve the outcome of patients living with SLE, APS, or SS.

Biologic therapy in large and small vessels vasculitis, and Behçet's disease: Evidence- and practice-based guidance.

OBJECTIVE: Vasculitis are a very heterogenous group of systemic autoimmune diseases, affecting large vessels (LVV), small vessels or presenting as a multisystemic variable vessel vasculitis. We aimed to define evidence and practice-based recommendations for the use of biologics in large and small vessels vasculitis, and Behçet's disease (BD). METHODS: Recommendations were made by an independent expert panel, following a comprehensive literature review and two consensus rounds. The panel included 17 internal medicine experts with recognized practice on autoimmune diseases management. The literature review was systematic from 2014 until 2019 and later updated by cross-reference checking and experts' input until 2022. Preliminary recommendations were drafted by working groups for each disease and voted in two rounds, in June and September 2021. Recommendations with at least 75% agreement were approved. RESULTS: A total of 32 final recommendations (10 for LVV treatment, 7 for small vessels vasculitis and 15 for BD) were approved by the experts and several biologic drugs were considered with different supporting evidence. Among LVV treatment options, tocilizumab presents the higher level of supporting evidence. Rituximab is recommended for treatment of severe/refractory cryoglobulinemic vasculitis. Infliximab and adalimumab are most recommended in treatment of severe/refractory BD manifestations. Other biologic drugs can be considered is specific presentations. CONCLUSION: These evidence and practice-based recommendations are a contribute to treatment decision and may, ultimately, improve the outcome of patients living with these conditions.

Mycoplasma pneumoniae Infection With Cavitated Lung Lesions: A Case Report.

Mycoplasma pneumoniae (MP) is a common etiologic agent involved in community-acquired atypical bacterial pneumonia. In severe cases, M. pneumoniae can cause cavitated lung lesions. We describe the case of a 55-year-old male seen at the emergency department with complaints of cough, fever, dyspnea, pleuritic chest pain, nausea, anorexia, asthenia, and night sweats. Cavitated lesions in the upper lobes of both lungs were documented on thoracic computed tomography (CT). An extensive investigation ruled out several infectious and non-infectious causes. The only positive result was a high immunoglobulin M (IgM) titer for M. pneumoniae. The patient was treated with azithromycin and exhibited rapid clinical improvement. Three months later, a repeat thoracic computed tomography showed the resolution of the cavitated lesions. In this rare case of M. pneumoniae pneumonia with cavitated lesions, early identification of the etiologic agent and prompt antibiotic therapy led to the resolution of the cavitated lung lesions.

The Importance of MTHFR C677T/A1298C Combined Polymorphism in Deep Vein Thrombosis: A Case Report.

A 37-year-old woman presented in the emergency room with abdominal pain and nausea for about three weeks. She had no known risk factors for venous thromboembolism beyond taking oral contraceptives as a regular medication. Computed tomography (CT) scan revealed portal, superior mesenteric and splenic vein thrombosis. Thrombophilia tests were negative, except for the presence of heterozygosity for mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. Homocysteine levels and folic acid were normal. Anticoagulation was started. Follow-up CT after eight months showed cavernous transformation of the portal vein.

Light-Chain Multiple Myeloma: A Diagnostic Challenge.

Light-chain multiple myeloma (LCMM) is a less frequent type of multiple myeloma (MM), with a more aggressive course and poorer prognosis. It is characterized by the inability of the malignant plasma cells to produce heavy chains, resulting in the exclusive production of light chains. Therefore, no M-spike is visible in serum protein electrophoresis. We described the case of a 67-year-old female who presents to the emergency department with anemia, severe renal insufficiency, and multiple lytic bone lesions. After three days, the diagnosis of kappa light chain multiple myeloma was made in a patient with elevated serum and urinary kappa light chains and a bone marrow aspirate with 21.7% of atypical plasma cells. The rapid diagnosis allowed prompt referral to a specialized multiple myeloma center and early initiation of treatment.

Eosinophilic Granulomatosis With Polyangiitis With Extensive Cutaneous Involvement.

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic vasculitis. This report describes the case of a 68-year-old female that showed up at the emergency department with extensive haemorrhagic bullous lesions, affecting elbows, the dorsal side of hands, feet and knees, with loss of tissue and necrotic areas. The evaluation led to the diagnosis of antineutrophil cytoplasmic antibody-positive EGPA with multisystem involvement: cutaneous, pulmonary, renal, intestinal and peripheral and central nervous system. She received corticosteroids and intravenous immunoglobulin. She developed multiple infectious complications with multidrug-resistant bacteria. Two months after the diagnosis, the patient had no respiratory or gastrointestinal signs or symptoms, and the proteinuria was mild. Yet, she maintained extensive ulcers and was suffering from disabling dysesthesias. After the resolution of all infections, we decided to start rituximab. She was also submitted to excisional debridement and heterologous graft repair and later to autologous graft repair of elbows and feet. She had a good clinical response with complete healing of the wounds. This case intends to illustrate a serious form of EGPA, with severe multisystem involvement that resulted in great morbidity. It was a clinical challenge to balance the need for immunosuppressive therapy with the high infectious risk of the patient. Nonetheless, we considered that disease control was fundamental to skin recovery, better physical rehabilitation and better quality of life.

Goodpasture's syndrome with absence of circulating anti-glomerular basement membrane antibodies: a case report.

BACKGROUND: Goodpasture's syndrome, a rare disease, is an organ-specific autoimmune disease mediated by anti-glomerular basement membrane antibodies. Its pathology is characterized by crescentic glomerulonephritis with linear immunofluorescent staining for immunoglobulin G on the glomerular basement membrane. Although rare, a few cases with absence of circulating anti-glomerular membrane antibodies have been described. CASE PRESENTATION: The objective of this clinical case report is to describe and discuss a case of a 27-year-old white man who was hospitalized with a 1-year history of weight loss and a 1-month history of hemoptysis, with aggravation  the day before, having developed dyspnea and cough in the previous 24 hours. An analytical study showed normocytic normochromic anemia with a hemoglobin level of 7.2 g/dL and leukocytosis with normal renal function and coagulation times. A blood transfusion was performed without complications. Chest computed tomography revealed a reticulonodular infiltrate of both lungs. Bronchoscopy showed no apparent lesions. Sputum cultures, rapid urine antigens for Legionella pneumophila and Streptococcus pneumoniae, studies for Influenza, virologic markers and serologic studies for autoimmunity were all negative. At the end of the tenth day his general state deteriorated with fatigue, hematuria, and in 3 days he developed aggravation of renal function with recurrent hemoptysis and anemia. Immunosuppression with daily prednisolone 1 g administered intravenously was initiated. An urgent bronchoscopy showed no lesions. A kidney biopsy showed fibrinoid necrosis and cellular crescents. Immunofluorescence revealed a linear immunoglobulin G deposition compatible with Goodpasture's syndrome. Immunosuppressive therapy with daily cyclophosphamide 120 mg orally was added. Subsequently he was transferred to a referral center at which 21 sessions of plasmapheresis and four sessions of hemodialysis were performed with good response; he currently has no need of hemodialysis. CONCLUSIONS: The absence of circulating anti-glomerular basement membrane antibodies in Goodpasture's syndrome adds complexity to the diagnosis creating an unusual setting in a rare disease. In our case a kidney biopsy was essential for diagnosis and clinical approach. Studies have shown that early aggressive therapy leads to an improved prognosis. Physicians should consider tissue diagnoses such as bronchoscopy and kidney biopsy in pulmonary renal syndrome.