CHEST Guidelines-A-56-Year-Old-Man-With-Emphysema,-Rash,-and-Arthra

A-56-Year-Old-Man-With-Emphysema,-Rash,-and-Arthra

Pdf Summary

A 56-year-old man, former smoker, avid biker, and skier, presented with dyspnea, exercise-induced hypoxemia, and a history of gluten-intolerance, Raynaud’s phenomenon, skin lesions, and joint pain. Despite treatment for presumed exercise-induced asthma, his condition did not improve. Examination revealed distant breath sounds and a history of a transient rash. Pulmonary function tests indicated severe emphysema and a reduced lung diffusion capacity. Imaging and tests revealed extensive panlobular emphysema, right ventricular pressure overload, and signs suggestive of exercise-induced pulmonary hypertension.<br /><br />Laboratory findings ruled out alpha-1 antitrypsin deficiency and infections, but revealed elevated inflammatory markers (ESR, CRP), high ANA titer, a positive C1q autoantibody, and hypocomplementemia, leading to a diagnosis of Hypocomplementemic Urticarial Vasculitis Syndrome (HUVS). HUVS is an anti-C1q vasculitis causing multi-system issues including emphysema, characterized by urticarial skin lesions and low complement levels. It manifests as emphysema often more severe than airflow obstruction suggests, frequently resulting in lung disease by age 30. Despite steroid and azathioprine treatment, the patient’s lung function declined, prompting initiation of rituximab and the consideration for lung transplantation due to the progressive nature of HUVS-associated lung damage. <br /><br />HUVS is treated with immunosuppressants like prednisone, azathioprine, and rituximab, aiming to manage symptoms and slow disease progression, although lung disease often progresses rapidly. Emphysema and chronic hypoxemia intensify conditions like pulmonary hypertension, complicating the clinical course. Regular monitoring and potentially lung transplantation are crucial due to the disease's impact on lung function and the risk of severe outcomes.

Keywords

Hypocomplementemic Urticarial Vasculitis Syndrome

HUVS

emphysema

pulmonary hypertension

C1q autoantibody

rituximab

immunosuppressants

lung transplantation

Raynaud’s phenomenon

gluten-intolerance