Shrinking Lung Syndrome: A Rare Pulmonary Complication of Systemic Lupus Erythematosus.

Shrinking lung syndrome (SLS) is a rare pulmonary complication primarily associated with autoimmune diseases such as systemic lupus erythematosus (SLE). A 38-year-old female recently diagnosed with SLE on hydroxychloroquine, prednisone, and methotrexate presented with a one-week history of progressive shortness of breath, non-productive cough, and pleuritic chest pain. She was afebrile with adequate oxygen saturation. Examination revealed a few fine crackles in the lung fields. Laboratory results showed pancytopenia. Initial treatment included broad-spectrum antibiotics and intravenous methylprednisolone for a suspected lupus flare. Cultures and tests for infections, including tuberculosis, were negative. Imaging revealed bilateral airspace disease with no pulmonary embolism. Autoimmune workup showed high antinuclear antibodies, positive anticardiolipin antibody, ribonucleoprotein, and anti-Smith antibody. Diagnosed with SLS, she was started on a tapering dose of methylprednisolone and hydroxychloroquine, along with rituximab, leading to significant improvement. Pulmonary function tests (PFTs) showed a restrictive pattern. SLS, with a very low prevalence in SLE, can also occur in systemic sclerosis, Sjogren's syndrome, and rheumatoid arthritis. Typical symptoms include dyspnea, pleuritic chest pain, and cough. Diagnosis involves chest radiography showing an elevated diaphragm and restrictive PFT pattern. Treatment often includes corticosteroids such as methylprednisolone and immunosuppressive agents. Rituximab has shown improvement in cases unresponsive to conventional therapy.

A Rare Case of Bone Marrow Sarcoidosis.

Sarcoidosis is a systemic disease characterized by non-caseating epithelioid granulomas and can affect multiple organ systems, most commonly the lungs. Bone marrow involvement in sarcoidosis is rare and not well-documented. This case report details a 50-year-old female presenting with chronic lower back pain and significant hypercalcemia. Imaging revealed non-obstructive renal stones, liver nodularity, splenomegaly, and lung nodules. Initial treatments included corticosteroids for suspected sarcoidosis. Diagnostic workup, including bronchoalveolar lavage and various malignancy markers, was negative. A bone marrow biopsy showed non-caseating granulomas, confirming bone marrow sarcoidosis. This case underscores the importance of considering bone marrow involvement in patients with extrapulmonary sarcoidosis symptoms and highlights the need for a high index of suspicion among healthcare providers. Corticosteroids remain the primary treatment, with ongoing research into alternative therapies.

Granulomatosis With Polyangiitis (GPA): Isolated Nasal Bridge Involvement.

Granulomatosis with polyangiitis (GPA) is a rare autoimmune vasculitis primarily affecting small blood vessels and presenting with systemic manifestations, including those in the kidneys and respiratory tracts. Diagnosis involves clinical assessment and specific serological tests. This paper presents the case of a 68-year-old morbidly obese woman with chronic sinusitis, hypertension, and hyperlipidemia who developed a saddle nose deformity. Despite the absence of typical respiratory and renal symptoms, her laboratory results showed positive antineutrophil cytoplasmic antibodies (ANCA) and antinuclear antibodies (ANA), with a nasal septal biopsy confirming GPA. She was treated with methotrexate and folic acid. This case underscores the variability of GPA presentations and the critical importance of early diagnosis and treatment to prevent irreversible damage.

Limited Antineutrophil Cytoplasmic Antibody-Associated Vasculitis Presenting With Diffuse Alveolar Hemorrhage: A Case Report and Literature Review.

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) presents a significant medical challenge, with an annual incidence of 2.4 to 4.1 cases per 100,000 individuals and a prevalence of 29.6-54.6 cases per 100,000 individuals in the US. Diffuse alveolar hemorrhage (DAH) is a rare but grave complication of AAV, often associated with a mortality rate as high as 58.3%. This case study highlights a 52-year-old male patient who presented with hemoptysis and was diagnosed with DAH on bronchoscopy, subsequently testing positive for ANCA-PR3. Prompt intervention, including pulse steroids, rituximab, and plasmapheresis, along with the novel FDA-approved drug avacopan, led to significant improvement within four weeks. Early recognition and aggressive management are crucial in mitigating the life-threatening consequences of DAH in AAV, emphasizing the importance of bronchoscopy and advanced therapeutic modalities. This case underscores the potential efficacy of avacopan in managing ANCA vasculitis post-acute phase, offering hope for improved outcomes in this challenging condition.

A Rare Presentation of Polyarteritis Nodosa (PAN).

Polyarteritis nodosa (PAN) is a connective tissue disease that affects arteries, causing necrotizing inflammation that can weaken the arterial walls, dilatation into aneurysms, and rupture in some cases. We present a case of a male with acute abdomen from aneurysmal rupture. The 48-year-old patient with a history of polysubstance use including cocaine and methamphetamines was admitted for acute hypoxic respiratory failure secondary to coronavirus disease 2019 (COVID-19) pneumonia and treated with broad-spectrum antibiotics and steroids. He also reported generalized abdominal pain and discomfort, and examination revealed abdominal distension that was diffusely tender on palpation, bowel sounds intact. Laboratory workup showed a progressive drop in hemoglobin requiring blood transfusions, no coagulopathy, anion gap metabolic acidosis, and lactic acidosis. Abdominal CT showed a 2 cm lobulated saccular aneurysm involving either the left gastric artery or splenic artery, associated with an extensive moderate amount of hemoperitoneum with hematomas (largest measuring up to 8.6 cm) abutting the gastric fundus and greater curvature of the stomach, which was likely secondary to aneurysmal rupture. Additionally, several other mesenteric vessels displayed some degree of dilation. Interventional radiology (IR)-guided splenic artery embolization for splenic artery aneurysm was done, after which his hemoglobin remained stable. The patient was given vaccine recommendations since splenic artery embolization would lead to asplenia. The aneurysms were attributed to either cocaine-related aneurysms or polyarteritis nodosa with visceral artery aneurysms. He denied rashes, oral ulcers, joint pain, subcutaneous nodules, blood in the urine, history of hepatitis or syphilis. Tertiary syphilis was ruled out after the Venereal Disease Research Laboratory (VDRL) test and rapid plasma reagin (RPR) test were negative. Complement C3 and C4 levels were normal. He was treated with high-dose IV methylprednisone after infection was ruled out. Due to the severity of PAN, therapy with IV cyclophosphamide therapy 15 mg/kg once every two weeks for three doses was initiated, followed by 15 mg/kg once every three weeks for three to six months (in combination with glucocorticoids prednisone 1 mg/kg body weight with slow taper). Cyclophosphamide was given with IV hydration and mesna. The presentation of PAN can vary widely. Most commonly, individuals experience symptoms such as fatigue, weight loss, fever, and chills. However, in rare cases, patients may present with isolated abdominal pain, similar to our patient. It's crucial to note that the rupture of an aneurysm can manifest as an acute abdominal issue, potentially leading to life-threatening situations. Immediate interventions to control bleeding are imperative in such cases. The treatment of PAN has a high success rate when a combination of cyclophosphamide and steroids is administered.

A Rare Presentation of Systemic Sclerosis.

Systemic sclerosis (SSc) is a persistent autoimmune disorder. While it commonly impacts the cardiac valves, particularly the mitral valve, involvement of the aortic valve has been seldom documented. We report a case of a 47-year-old male with a history of progressive SSc who displayed complications related to cardiac issues, which were verified through a left atrial appendage biopsy revealing thickening due to fibrosis. This cardiac involvement led to a condition necessitating the replacement of the aortic valve due to aortic regurgitation. This instance underscores the importance of identifying this uncommon association, enabling the delivery of appropriate patient treatment, and reducing complications linked to the underlying condition.

Atypical Presentation of Mixed Connective Tissue Disorder Involving Bilateral Diaphragm.

Pulmonary manifestations can be present in 20-80% of patients having mixed connective tissue disorder (MCTD) and are usually subacute. MCTD when associated with polymyositis can rarely involve the diaphragm, causing respiratory failure. We present herein the case of a 49-year-old female having MCTD with a component of polymyositis who presented with bilateral diaphragmatic paralysis followed by heart failure requiring respiratory support with non-invasive mechanical ventilation. We are aware of only one prior instance of MCTD associated with unilateral diaphragmatic weakness causing mild respiratory dysfunction. To the best of our knowledge, this is the second reported case of diaphragmatic involvement in the MCTD population, with bilateral diaphragmatic paralysis causing severe respiratory failure. This is also the first reported case of such an unusual initial presentation in this patient group. Pulmonary involvement has a poor prognosis. Early diagnosis with the initiation of therapy can improve mortality outcomes in this patient population.

Systemic Lupus Erythematosus-Associated Serositis Managed With Intravenous Belimumab: A Case Report.

Systemic lupus erythematosus (SLE) is an autoimmune disease that involves multiple organ systems. Due to the heterogeneity of its presentation, it is challenging for clinicians to diagnose and manage the symptoms. SLE has a wide range of presentations from mild to severe and involves various organ systems like mucocutaneous, musculoskeletal, cardiopulmonary, renal, gastrointestinal, and central nervous system. Various novel treatment modalities are being used based on clinical presentation. Prednisone and methylprednisolone are commonly used as needed for acute flares of SLE. Some patients may need a low dose of oral prednisone to keep their SLE under control, which carries a risk of coronary artery disease (CAD) and many other metabolic side effects of steroids. Other long-term medications that are commonly used include hydroxychloroquine, methotrexate, azathioprine, mycophenolate, cyclosporine, and cyclophosphamide. Intravenous cyclophosphamide is used only in severe lupus with renal, pulmonary, or CNS involvement. Rituximab is a human monoclonal B-cell cluster of differentiation (CD)20 receptor antibody used for severe SLE not responding with other medications. Other newer medications are belimumab and anifrolumab. Anifrolumab is a fully human monoclonal antibody that binds to subunit 1 of the type I interferon receptor. We present a case of a 25-year-old female with a chronic history of SLE presented to the outpatient clinic with abdominal distension that needed frequent abdominal paracenteses. She was using hydroxychloroquine, mycophenolate mofetil, and prednisone, but her symptoms were not adequately controlled. After we started the patient on monthly intravenous belimumab, her symptoms and the frequency of visits for paracentesis gradually reduced. B-cells are known to play an essential role in the pathogenesis of SLE, and the use of belimumab, an anti-BLys (B-lymphocyte stimulator) human monoclonal antibody that inhibits B-cell growth, can play a significant role in the management of SLE associated chronic serositis.

An Interesting Case of Immunoglobulin G4-Related Retroperitoneal Fibrosis Treated With Rituximab.

Immunoglobulin G4-related disease (IgG4-RD) is a fibroinflammatory condition. Its common manifestations include type I autoimmune pancreatitis and retroperitoneal fibrosis (RPF). We present a rare case involving a 43-year-old female who presented with left lower quadrant (LLQ) pain. Imaging of the abdomen and pelvis revealed left hydroureteronephrosis to the level of an inflammatory process in the left adnexal region, possibly reflecting a tubo-ovarian abscess (TOA). The gynecologic evaluation concluded that the mass was unlikely of gynecologic sources. Transgluteal biopsy of the mass was highly suggestive of IgG4-RD. The patient received prednisone and rituximab (RTX), resulting in complete resolution of the mass, which was confirmed on repeat imaging. This case report provides a valuable addition to the literature to highlight that the diagnosis of IgG4-RD is based on the combination of characteristic clinical, serologic, radiologic, and histopathologic findings. Also, it underlines that the management of the disease is through glucocorticoids (GCs) as the first-line agent for remission induction in all patients with active, untreated IgG4-RD. RTX therapy is an effective treatment for IgG4-RD that is refractory to GCs. Recent studies have suggested that RTX monotherapy can be used to induce and maintain remission in patients with IgG4-RD.

Raynaud's Secondary to Granulomatosis With Polyangiitis.

Raynaud's phenomenon (RP) is an episodic digital vasospastic condition that is prevalent among 5% of the population. The symptoms range from reversible pallor to ischemia and gangrene. RP can be primary or secondary. We discuss a case of severe RP secondary to granulomatosis with polyangiitis (GPA) that presented with ischemia and gangrene. Studies show that approximately <1% of GPA cases have similar presentations. Early diagnosis and management are essential to halt the progression of ischemia. Calcium channel blockers are the first-line medications used in RP. Phosphodiesterase type 5 inhibitors, endothelin receptor antagonists, and prostacyclin analogs are proven to be effective in cases of severe RP. Sympathectomy and amputation are considered as the extreme options in patients with refractory symptoms.

Unusual Bilateral Upper Extremity Pitting Edema in a Patient With Severe Dermatomyositis.

A 56-year-old Hispanic female presented with six weeks of progressive dysphagia, proximal muscle weakness, erythematous rash, bilateral upper extremity pitting edema, and left lower extremity pitting edema. She had preserved heart function and a normal echocardiogram (ECG). She presented with elevated creatine kinase (CK) and aldolase, with normal renal function. Muscle biopsy suggested idiopathic polymyositis. No blood clot was seen on deep vein thrombosis (DVT) ultrasound. The myositis antibody panel showed the NXP-2 antibody, which is usually seen in pediatric dermatomyositis cases. In our literature search, extremity pitting edema is an unusual way of presentation in dermatomyositis. She responded with intravenous immunoglobulin (IVIg) and high-dose intravenous steroids. We used azathioprine for remission maintenance; her rash recurred after tapering steroids. We resumed tapering steroid therapy and started her on weekly methotrexate along with daily azathioprine. With this combination therapy, her rash and muscle function improved. We successfully tapered her steroids. In our literature search, combination therapy with azathioprine and methotrexate was not reported. Our patient is tolerating this therapy very well.