Pulmonary-9 - laptoping

[ArchivalUser]

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

[ArchivalUser]

D.

[ArchivalUser]

d. whats the ans and pls give explanation

[ArchivalUser]

a?

[ArchivalUser]

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.