Are we forgetting to carry out serum protein electrophoresis as part of diagnosis workup?

BACKGROUND: Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin's dosage. CASE PRESENTATION: The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period. CONCLUSIONS: SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease.

Heart failure as an adverse effect of infliximab for Crohn's disease: A case report and review of the literature.

BACKGROUND: Anti-tumor necrosis factor agents were the first biologic therapy approved for the management of Crohn's disease (CD). Heart failure (HF) is a rare but potential adverse effect of these medications. The objective of this report is to describe a patient with CD who developed HF after the use of infliximab. CASE SUMMARY: A 50-year-old woman with a history of hypertension and diabetes presented with abdominal pain, diarrhea, and weight loss. Colonoscopy and enterotomography showed ulcerations, areas of stenosis and dilation in the terminal ileum, and thickening of the intestinal wall. The patient underwent ileocolectomy and the surgical specimen confirmed the diagnosis of stenosing CD. The patient started infliximab and azathioprine treatment to prevent post-surgical recurrence. At 6 mo after initiating infliximab therapy, the patient complained of dyspnea, orthopnea, and paroxysmal nocturnal dyspnea that gradually worsened. Echocardiography revealed biventricular dysfunction, moderate cardiac insufficiency, an ejection fraction of 36%, and moderate pericardial effusion, consistent with HF. The cardiac disease was considered an infliximab adverse effect and the drug was discontinued. The patient received treatment with diuretics for HF and showed improvement of symptoms and cardiac function. Currently, the patient is using anti-interleukin for CD and is asymptomatic. CONCLUSION: This reported case supports the need to investigate risk factors for HF in inflammatory bowel disease patients and to consider the risk-benefit of introducing infliximab therapy in such patients presenting with HF risk factors.

Management of inflammatory bowel disease and serum level of infliximab in newborn exposed to anti-TNF therapy during pregnancy: Case report and literature review.

RATIONALE: Heightened inflammatory bowel disease (IBD) activity during pregnancy is associated with higher rates of preterm birth, miscarriage, and low birth weight. Therefore, its adequate treatment is essential, considering the risk-benefit of medication use. Although previous literature has described the management of IBD during pregnancy, few studies have assessed the pharmacokinetics of IBD drugs in the newborn. In this case report, we describe the management of ulcerative colitis during pregnancy and discuss the benefits of checking serum levels of infliximab in newborns exposed to the medication during pregnancy. PATIENT CONCERN: A 37-year-old patient with ulcerative colitis in clinical and endoscopic remission had been undergoing treated with infliximab since 2008. The patient became pregnant in 2018. DIAGNOSIS AND INTERVENTION: Infliximab medication was discontinued at the 29th week of pregnancy. OUTCOMES: The pregnancy was uneventful, and the levels of infliximab in the umbilical cord were >20 µg/dL. Live vaccinations were postponed until the baby was 6 months old, when a new serum drug level proved to be undetectable. LESSONS: Our case suggests that the use of infliximab is safe in pregnancy, and drug discontinuation could be considered from the 24th week of pregnancy onward to reduce placental transfer to the newborn in patients at low risk of relapse. Vaccines with live attenuated organisms should be delayed for at least 6 months or until the serum level of the medication is undetectable.

Small Intestinal Hemangioma: A Case Report.

BACKGROUND Hemangiomas are benign vascular neoplasms that originate from fast-growing embryonic mesodermal tissue and have a proliferation of endothelial cells, which manifest themselves in different forms, locations, and dimensions. Owing to its rarity and similarity of symptoms with other chronic bowel diseases, intestinal hemangioma is a differential diagnosis to be considered in patients presenting with symptoms such as abdominal pain and anemia. CASE REPORT A 46-year-old woman with a history of diffuse abdominal pain and abdominal distension for 20 years presented with a worsening of symptoms in the past year. She denied weight loss or changes in bowel habits or stool appearance. Laboratory investigations showed microcytic hypochromic anemia. Colonoscopy results were normal. A contrast-enhanced abdominal computed tomography scan showed focal and concentric thickening of the small intestine, measuring 8.3 cm, and associated with calcifications, intestinal dilation, mesenteric lymph node enlargement, and vascular dilatation and consistent with infectious granulomatous diseases such as intestinal tuberculosis, carcinoid tumor, Crohn's disease, and lymphoma. The tuberculin skin test resulted in a strong 25-mm reaction. We suspected intestinal tuberculosis or expansive injury, and the patient underwent exploratory laparotomy with visualization of a 4- to 5-cm bluish/blackish vegetating lesion located 220 cm from the Treitz angle. The anatomopathological study showed cavernous hemangioma of the small intestine, measuring 2.6×1.0 cm. The patient recovered well and remained asymptomatic. CONCLUSIONS Although rare, intestinal hemangioma should be on the list of differential diagnoses for chronic intestinal diseases, especially if there is anemia due to coexisting iron deficiency.

COVID-19 in a Patient with Liver Cirrhosis.

BACKGROUND The severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2), which manifests mainly as a respiratory condition, has become a global pandemic that causes coronavirus disease-2019 (COVID-19). Although the symptoms remain mild in most patients, the elderly and patients with previous comorbidities have higher rates of morbidity and mortality. Patients with liver cirrhosis, especially after decompensation, may be more susceptible to SARS-CoV-2 infection due to systemic immune dysfunction. CASE REPORT The patient was a 51-year-old man who was hypertensive, an ex-alcoholic abstinent for 6 months, and a smoker. He was diagnosed with alcoholic liver cirrhosis in July 2019, and was using norfloxacin at home for secondary prophylaxis of bacterial peritonitis. He was also using furosemide and spironolactone to control ascites and propranolol for primary prophylaxis of esophageal varices. The patient entered our hospital in July 2020 with cough, dyspnea, runny nose, diarrhea, and fever. During hospitalization, we confirmed infection by COVID-19 and secondary nosocomial pulmonary infection. Chest tomography compatible with ground-glass standard was performed. The patient developed the need for auxiliary oxygen but without invasive mechanical ventilation. The patient received dexamethasone 6 mg/day and broad-spectrum antibiotic therapy (he was started on cefepime but switched to meropenem). At the end of the 14-day isolation period, he was discharged with improved respiratory status. CONCLUSIONS Despite high mortality rates in patients with advanced cirrhosis who become infected with COVID-19, we report a case with a favorable outcome. Success has been achieved with the use of medications in studies of broad-spectrum antibiotics and the rapid detection of complications caused by the virus. Further studies in SARS-CoV-2 patients with chronic liver disease are needed.

Hidradenitis Suppurativa as a Paradoxical Side Effect to the Use of Adalimumab in Patients with Crohn's Disease?

BACKGROUND: Hidradenitis suppurativa is a chronic inflammatory skin disorder associated with inflammatory bowel disease. However, it can arise as a paradoxical side effect of anti-TNF treatment. METHODS: The article reports on three patients with Crohn's disease who developed hidradenitis suppurativa during the treatment with adalimumab. RESULTS: Case 1: A 38-year-old female exhibited an infiltrative lesion in the inguinal region and vulva, consistent with hidradenitis suppurativa, after three months of adalimumab. These lesions were treated with partial vulvectomy. Case 2: After adalimumab treatment, a 27-year-old female, originally diagnosed with ileocolonic Crohn's disease, went into clinical and endoscopic remission. The patient eventually presented two hyperchromic nodules in the inguinal region, which were diagnosed as hidradenitis suppurativa. The patient showed improvement after treatment with oral doxycycline and local therapy. Case 3: A 34-year-old female with fistulizing and stenosing ileocolonic Crohn's disease, started adalimumab in 2010, with optimization in 2015. One year after, the patient developed bilateral, erythematous, hardened, inguinal nodulations with purulent drainage, consistent with hidradenitis suppurativa. Treatment with oral doxycycline, fusidic acid, and infiltration with triamcinolone resulted in partial improvement of the lesions. In 2018, the lesions deteriorate. The patient underwent surgical treatment. CONCLUSION: Patients with inflammatory bowel disease are more likely to the development of other mediated inflammatory diseases, such as hidradenitis suppurativa. Hidradenitis suppurativa may appear as a paradoxical reaction to anti-TNF therapy. Clinical teams must be aware of this type of complication. Early diagnosis and treatment are essential for controlling the disease and preventing the onset of complications.

Streptococcal acute pharyngitis.

Acute pharyngitis/tonsillitis, which is characterized by inflammation of the posterior pharynx and tonsils, is a common disease. Several viruses and bacteria can cause acute pharyngitis; however, Streptococcus pyogenes (also known as Lancefield group A ß-hemolytic streptococci) is the only agent that requires an etiologic diagnosis and specific treatment. S. pyogenes is of major clinical importance because it can trigger post-infection systemic complications, acute rheumatic fever, and post-streptococcal glomerulonephritis. Symptom onset in streptococcal infection is usually abrupt and includes intense sore throat, fever, chills, malaise, headache, tender enlarged anterior cervical lymph nodes, and pharyngeal or tonsillar exudate. Cough, coryza, conjunctivitis, and diarrhea are uncommon, and their presence suggests a viral cause. A diagnosis of pharyngitis is supported by the patient's history and by the physical examination. Throat culture is the gold standard for diagnosing streptococcus pharyngitis. However, it has been underused in public health services because of its low availability and because of the 1- to 2-day delay in obtaining results. Rapid antigen detection tests have been used to detect S. pyogenes directly from throat swabs within minutes. Clinical scoring systems have been developed to predict the risk of S. pyogenes infection. The most commonly used scoring system is the modified Centor score. Acute S. pyogenes pharyngitis is often a self-limiting disease. Penicillins are the first-choice treatment. For patients with penicillin allergy, cephalosporins can be an acceptable alternative, although primary hypersensitivity to cephalosporins can occur. Another drug option is the macrolides. Future perspectives to prevent streptococcal pharyngitis and post-infection systemic complications include the development of an anti-Streptococcus pyogenes vaccine.

Streptococcal acute pharyngitis

Acute pharyngitis/tonsillitis, which is characterized by inflammation of the posterior pharynx and tonsils, is a common disease. Several viruses and bacteria can cause acute pharyngitis; however, Streptococcus pyogenes (also known as Lancefield group A β-hemolytic streptococci) is the only agent that requires an etiologic diagnosis and specific treatment. S. pyogenes is of major clinical importance because it can trigger post-infection systemic complications, acute rheumatic fever, and post-streptococcal glomerulonephritis. Symptom onset in streptococcal infection is usually abrupt and includes intense sore throat, fever, chills, malaise, headache, tender enlarged anterior cervical lymph nodes, and pharyngeal or tonsillar exudate. Cough, coryza, conjunctivitis, and diarrhea are uncommon, and their presence suggests a viral cause. A diagnosis of pharyngitis is supported by the patient's history and by the physical examination. Throat culture is the gold standard for diagnosing streptococcus pharyngitis. However, it has been underused in public health services because of its low availability and because of the 1- to 2-day delay in obtaining results. Rapid antigen detection tests have been used to detect S. pyogenes directly from throat swabs within minutes. Clinical scoring systems have been developed to predict the risk of S. pyogenes infection. The most commonly used scoring system is the modified Centor score. Acute S. pyogenes pharyngitis is often a self-limiting disease. Penicillins are the first-choice treatment. For patients with penicillin allergy, cephalosporins can be an acceptable alternative, although primary hypersensitivity to cephalosporins can occur. Another drug option is the macrolides. Future perspectives to prevent streptococcal pharyngitis and post-infection systemic complications include the development of an anti-Streptococcus pyogenes vaccine.