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A 25-year-old man from Missouri is evaluated for shortness of breath and dizziness. He has been otherwise healthy but has a personal and family history of frequent epistaxis. On physical examination, vital signs are normal. Cardiac examination reveals a right ventricular heave, loud P2, and a holosystolic murmur over the left sternal border which radiates towards the liver. Chest radiograph shows an enlarged right ventricle and right atrium, and enlargement of the proximal pulmonary arteries. There are no visible parenchymal or pleural abnormalities. Ventilation/perfusion scan shows no segmental or larger perfusion defects.
Which of the following would be the most appropriate next diagnostic step?
A Urine histoplasma antigen assay
B Bronchoalveolar lavage with staining for Pneumocystis jiroveci.
C Measurement of serum alkaline phosphatase
D Examination of the mouth and nose
E Factor V Leiden mutation assay
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D? Hereditary Haemorrhagic Telangiectasia. Autosomal ?dominant. Pulmonary vasculature changes..1y Pulmonary Hypertension and telangiectasia nose/ mouth causing epistaxis
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correct answer is D
This patient presents with pulmonary artery hypertension and a family history of epistaxis, which raises the possibility of hereditary hemorrhagic telangiectasia (HHT). HHT has been associated with familial pulmonary artery hypertension that is clinically and histologically indistinguishable from other familial forms of the disorder. The syndrome is associated with mutations on chromosome 12q13 involving activin-receptor“like kinase 1, a transforming growth factor β“receptor protein expressed on pulmonary artery endothelial cells.
HHT is generally diagnosed on clinical grounds, based on the presence of three of the following four criteria: (1) recurrent epistaxis; (2) telangiectasias in the lips, oral cavity, fingers, or nose; (3) visceral lesions such as gastrointestinal telangiectasias, or arteriovenous malformations in the lung, liver, or brain; (4) first-degree relatives with the same syndrome. In this patient, discovery of mucosal telangiectasias in the oral or nasal mucosa would help establish the diagnosis.
Fibrosing mediastinitis, a possible sequella of pulmonary histoplasmosis, can result in pulmonary hypertension. The disease is characterized by extensive fibrosis within the mediastinum, which can externally compress pulmonary arteries (as well as other mediastinal structures). The disease is characterized by the presence of relatively few organisms. Elevated levels of histoplasma antigen in the urine typically reflect large loads of the organism, such as one might expect with AIDS-related progressive disseminated disease. This patient has no known risk factors for HIV infection, and the chest radiograph is not suggestive of fibrosing mediastinitis.
HIV infection may be associated with pulmonary artery hypertension and a serological test for HIV may be helpful in the initial evaluation. There is no independent association with pneumocystis, however, so a bronchoalveolar lavage with silver staining will not be helpful.
Portal hypertension may be associated with the development of pulmonary artery hypertension. However, the physical examination is not compatible with cirrhosis, and the serum alkaline phosphatase level itself is not used to determine if this patient has cirrhosis and subsequent portal hypertension.
Although there is some evidence that anticoagulation is beneficial for patients with pulmonary artery hypertension, there is no known association between it and thrombophilic conditions such as factor V Leiden mutation.
