Chest
-
Alpha-1 antitrypsin deficiency (AATD) is an autosomal co-dominant condition that predisposes to emphysema, cirrhosis, panniculitis, and vasculitis. Underrecognition has prompted efforts to enhance early detection and testing of at-risk individuals. Direct-to-consumer (DTC) genetic testing represents an additional method of detection. ⋯ In this largest available report on DTC testing for AATD, this test, in combination with clinical follow-up, can help to identify previously undiagnosed AATD patients. Moreover, receipt of the DTC AATD report was associated with positive behavior change, especially among those with risk variants.
-
A 50-year-old woman was seen in the office for recurrent episodes of cough and right-sided chest pain. She had visited the ED three times in the past 15 months for the same complaint. Each time, the pain started gradually affecting the right lateral chest wall. ⋯ The patient was an active smoker with a more than 35-pack year history. She had no known medical condition and was not taking any medication routinely at home. She had no family history of alpha-1 antitrypsin deficiency or Marfan syndrome.
-
An 85-year-old Japanese man, who was taking aspirin and edoxaban for previous myocardial infarction and atrial fibrillation, came to our hospital with a chief complaint of dyspnea for 3 weeks. Chest radiography showed a massive left pleural effusion (Fig 1A). ⋯ However, he had neither coagulation disorder nor thrombocytopenia, and the pleural effusion was negative for atypical cells. These findings suggested that the antithrombotic and anticoagulant medications might have induced the hemothorax.
-
Case Reports
Two Siblings With Peripheral Pulmonary Arterial Stenosis: Pulmonary Angiography of Advanced and Early Stages.
Peripheral pulmonary arterial stenosis (PPAS) is known to cause pulmonary hypertension (PH). Although adult patients at advanced stage have been increasingly reported, there are few reports on clinical characteristics and pulmonary angiography (PAG) findings of early stage PPAS. We present two Japanese siblings with PPAS with homozygosity of RNF213 p. ⋯ Notably, her PAG demonstrated nonthrombotic stenosis in the subsegmental branches of the pulmonary arteries with varying degrees of stenosis among lung segments. Taken together with a family history, genetic analysis, and cerebral angiography, the obtained images were considered as showing PPAS with early stage. This result is clinically informative to diagnose PPAS at an early stage and is also important to understand the pathogenesis of PPAS.