SCIENTIFIC
Familial Pulmonary Fibrosis : A Case Report
AUTHORS : Rachael Hagen , DO 1
Salam Rajjoub , MD 2
1
Department of Medicine , University of Connecticut
2
Clinical Professor of Internal Medicine and Pulmonary Medicine , West Virginia School of Osteopathic Medicine
CASE PRESENTATION
A 73-year-old male presented to the pulmonology clinic for dyspnea at rest and clubbing of his fingernails that had gradually progressed over the past year ( Figure 1 ). He also reported a dry cough that had been present for two years and required oxygen shortly thereafter . Initially , he required 2 liters ( L ) of oxygen with exertion via nasal cannula , which progressed to 3L over the following year . His history was remarkable for smoking one pack of cigarettes per day for 20 years , with cessation in 1974 . His occupational history included working as a human resource manager at a glass factory for nine years , working in a factory building industrial dampers for 10 years , and mining coal for 10 years .
ABSTRACT
This report describes a unique case of familial pulmonary fibrosis , with similar clinical findings to idiopathic pulmonary fibrosis , but seen in several cousins of the same family . The prevalence of familial pulmonary fibrosis is likely underestimated , primarily due to a lack of surveillance , as pulmonary fibrosis is frequently
His medical history included arthritis of the hands , atrial fibrillation , benign prostatic hyperplasia , essential tremor , and gastroesophageal reflux disease . His medications included citalopram 20 milligrams ( mg ) daily , budesonide / formoterol inhaler two puffs twice a day , clopidogrel 75 mg daily , dofetilide 250 micrograms twice a day , finasteride 0.4 mg daily , furosemide 20 mg daily , metoprolol succinate 50 mg daily , niacin , omeprazole 20 mg daily , primidone 100 mg daily , warfarin 2.5 mg daily , and vitamin D3 800 units daily . Family history was significant for three of his maternal uncle ’ s children having pulmonary fibrosis . One female cousin was diagnosed at 69 years old , one male cousin was diagnosed in his early sixties , and another male cousin was diagnosed at 65 years old and died due to complications of a lung transplant . Their occupational history was unremarkable for any exposures , and to the patient ’ s knowledge , none of these relatives were exposed to tobacco or environmental toxins . Further information on the social , occupational , and medical history of the cousins was unknown .
On physical examination , the patient was in mild respiratory distress with fast , shallow breaths . Vital signs were significant for a respiratory rate of 20 , which limited his ability to perform activities of daily living . While on 3L of oxygen via nasal cannula , his oxygen saturation remained at 98 %, but he experienced hypoxemia with exertion . Chest auscultation revealed bibasilar inspiratory crackles , with diminished breath sounds bilaterally . His fingers showed significant clubbing with cyanotic discoloration and 1 + bilateral lower extremity pitting edema .
Spirometry findings were as follows : forced expiratory volume in 1 second ( FEV1 )/ forced vital capacity ( FVC ) pre-bronchodilator 96 % post-bronchodilator 95 %; FVC 2.40L 68 % pre-bronchodilator , 2.48L post-bronchodilator 68 %; 2.30L FEV1 91 % pre-bronchodilator and 2.38L 93 % post-bronchodilator . His workup for connective tissue disease was negative , including antinuclear antibody screen , rheumatoid factor , inflammatory markers such as erythrocyte sedimentation rate and C-reactive protein , complete blood count , and urinalysis . A high-resolution computed tomography scan ( HRCT ) of the chest revealed increased interstitial markings , honeycombing of the lung periphery , and perceived as acquired or idiopathic condition . Recent advancements have led to the identification of several genes linked to familial pulmonary fibrosis , highlighting the potential for targeted therapies as promising future treatment methods .
FIGURE 1
Clubbing of the fingernails with cyanotic discoloration due to hypoxemia from lung fibrosis .
traction bronchiectasis at the lower lobes , with a small lung size overall ( Figure 2a-c ).
The patient was prescribed the anti-fibrotic medication nintedanib , at a dose of 150 mg orally twice daily . Follow-up liver function tests were within normal limits . After three months of nintedanib therapy , follow-up pulmonary function testing ( PFT ) revealed the following values : FEV1 / FVC 95 % pre-bronchodilator and 94 % post-bronchodilator ; FVC pre-bronchodilator 2.4L ( 68 %) and post-bronchodilator 2.5L ( 71 %); FEV1 2.29L ( 86 %) pre-bronchodilator and 2.38L ( 89 %) post-bronchodilator ; total lung capacity ( TLC ) 64 %; residual volume : TLC 104 %; maximal voluntary ventilation 28 %. At that time , he deferred performing a diffusion capacity of carbon monoxide ( DLCO )
West Virginia Medical Journal • December 2023 • 21