title: Vocal Cord Paralysis and Hypercapnic Respiratory Failure in a Patient with Familial Amyloidotic Polyneuropathy.
abstract: We herein report a patient case with familial amyloidotic polyneuropathy (FAP) who presented with vocal cord paralysis (VCP). A 60-year-old man with FAP (Gly89Gln) presented with hoarseness and snoring for the previous two years. A chest X-ray demonstrated cardiomegaly and bilateral diaphragmatic elevation. The findings of a restrictive pattern on spirometry and daytime hypercapnia were consistent with respiratory muscle weakness related to neuropathy [forced expiratory volume (FEV1): 38%, forced vital capacity (FVC): 39%, FEV1/FVC: 77, partial pressure of arterial oxygen (PaO2): 80 mmHg, partial pressure of carbon dioxide in arterial blood (PaCO2): 52 mmHg]. An ear-nose-throat examination showed VCP. Polysomnography revealed severe obstructive sleep apnea (OSA). FAP may cause OSA by VCP and hypercapnic respiratory failure by respiratory muscle weakness. Therefore, an ear-nose-throat examination, spirometry, arterial blood gases analysis and polysomnography are important for these patients.
authors.affiliation: Haydarpaşa Numune Training and Research Hospital, Turkey.
authors.forename: Aylin
authors.initials: A
authors.lastname: Pıhtılı
authors.forename: Züleyha
authors.initials: Z
authors.lastname: Bingol
authors.forename: Hacer
authors.initials: H
authors.lastname: Durmuş
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Parman
authors.forename: Esen
authors.initials: E
authors.lastname: Kıyan
mesh_terms: D001784:Blood Gas Analysis; D006801:Humans; D006935:Hypercapnia / Q000097:blood / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D011115:Polyneuropathies / Q000150:complications* / Q000503:physiopathology; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency; D020181:Sleep Apnea, Obstructive / Q000209:etiology / Q000503:physiopathology; D014826:Vocal Cord Paralysis / Q000209:etiology* / Q000503:physiopathology