A 24-year-old Senegalese woman without remarkable history except anemia and iron deficiency related to excessive menstrual bleeding and sickle cell trait was admitted to our internal medicine department with 4-month fever, weight loss (-13 kg), dyspnea for limited efforts, intermittent productive cough, and bilateral metacarpophalangeal (MCP) and interphalangeal arthralgia. She was born and lived in France. She traveled previously to Senegal in 2015. She had no history of tobacco, alcohol, or drug use nor proximity with animals. She was taking no medication.

A 61-year-old man presented to the pulmonary clinic with symptoms of dyspnea and productive cough for the last 6 months. Within the last 2 months, he started noticing bulging of his eyes associated with blurry vision. He denied hemoptysis, fever, night sweats, weight loss, skin rash, and dry eyes or mouth. He is a former smoker, and he denied any recent travel history. The patient has a history of microscopic polyangiitis, which was treated with cyclophosphamide and mycophenolate maintenance therapy and has been in remission for the last 7 years.

A 52-year-old woman was referred to the pulmonary office for evaluation of worsening dyspnea in August 2022. She had been diagnosed with asthma 22 years ago after she experienced chronic cough, sputum production, occasional wheezing, and mild exertional shortness of breath. Over the years, she was treated with different inhalers and was currently on triple inhaler therapy. A pulmonary function test in 2020 was normal. She had a history of ulcerative colitis and underwent a total colectomy in 1998. In the early 2000s, the patient also experienced episcleritis. Her other medical conditions included hyperlipidemia, gout, and gastroesophageal reflux disease.

A 79-year-old man was examined because of recurrent dyspnea and constitutional symptoms that included malaise, fatigue, fevers, and arthralgias over the past 7 years. He was a nonsmoker who was a retired farmer. Elevated levels of acute phase reactants and C-reactive protein and a high erythrocyte sedimentation rate were noted often in his health records. However, an extensive rheumatologic evaluation, which included serologic studies (antinuclear antibodies, cyclic citrullinated peptide antibodies, antineutrophil cytoplasmic antibodies) and temporal artery biopsy, had not shown an identifiable autoimmune disease. The patient had been treated intermittently with prednisone, with partial symptomatic improvement. Various cytopenias had been present over the preceding years; however, three bone marrow biopsy specimens showed moderately hypercellular bone marrow with no diagnostic findings.

Pulmonary arteriovenous malformations (PAVMs) are rare and most often identified in patients with hereditary hemorrhagic telangiectasia (HHT). We describe a patient with severe hypoxemia and orthodeoxia with imaging findings consistent with PAVMs. Resected lung pathologic findings confirmed the presence of numerous microscopic vascular abnormalities within the right lower lobe that was consistent with diffuse pulmonary arteriovenous shunts. Family history was negative for HHT but was positive for pulmonary arterial hypertension (PAH) in two second-degree relatives. A vascular malformation gene panel was negative for genes that commonly are associated with HHT but identified a pathogenic variant in the gene encoding bone morphogenetic protein receptor-2 (BMPR2 p.Cys123∗). Pathogenic variants in BMPR2 are a well-known cause of hereditary PAH; there have been several reports to date of patients with PAVMs and PAH. However, this is the first patient to be reported with a pathogenic variant in BMPR2 to have PAVMs in isolation.