Maria Planchart Ferretto, MD

Pronouns

She/Her/Hers

Rank

Research Fellow

Institution

BWH

BWH-MGH Title

Postdoctoral Research Fellow

Department

Pulmonary and Critical Care

Authors

Gary M. Hunninghake, Luisa D. Quesada-Arias, Nikkola E. Carmichael, Jose M. Martinez Manzano, Sergio Poli De Frías, Maura Alvarez Baumgartner, Lisa DiGianni, Shannon N. Gampala-Sagar, Dominick A. Leone, Swati Gulati, Souheil El-Chemaly, Hilary J. Goldberg, Rachel K. Putman, Hiroto Hatabu, Benjamin A. Raby, and Ivan O. Rosas

Interstitial Lung Disease in Relatives of Patients with Pulmonary Fibrosis

Once I graduated from medical school in Venezuela, where I was born and raised, I came to the US and started working as a postdoctoral research fellow. The project I coordinate focusses on Idiopathic Pulmonary Fibrosis, a disease without cure that has a mortality rate worse than most malignancies. I want to inspire others as a woman, Latin, physician, research fellow, but also as a patient (recently diagnosed with MS), to always move forward and achieve their goals despite the adversities. It is fascinating how medicine is based on evidence and that is achieved through research outcomes.

Background

Idiopathic pulmonary fibrosis (IPF) is the most common and severe form of interstitial lung disease (ILD). Although relatives of patients with familial pulmonary fibrosis (FPF) are at an increased risk for ILD, the risk among relatives of sporadic IPF is not known.

Methods

Undiagnosed first-degree relatives of patients with pulmonary fibrosis (PF) consented to participate in a screening study that included the completion of questionnaires, chest computed tomography, pulmonary function testing, a blood sample collection for immunophenotyping, telomere length assessments, and genetic testing.

Results

Of the 105 relatives in the study, 33 (31%) had ILA, whereas 72 (69%) were either indeterminate or had no ILA. Of the 33 relatives with ILA, 19 (58%) had further evidence for ILD. There was no evidence in multivariable analyses that the prevalence of either ILA or ILD differed between the 46 relatives with FPF and the 59 relatives with sporadic IPF. Relatives with decrements in either total lung or diffusion capacity had a greater than 9-fold increase in their odds of having ILA (odds ratio, 9.6; 95% confidence interval, 3.1–29.8; P < 0.001).

Conclusions

Our findings suggest that screening for PF in relatives might be warranted.