Pseudoxanthoma Elasticum - Also a Lung Disease? The Respiratory Affection of Patients with Pseudoxanthoma Elasticum.
BACKGROUND
Pseudoxanthoma elasticum (PXE) is an autosomal-recessive mineralisation disorder caused by loss of function mutations in the ABCC6 Gen. Histological findings and data of an autopsy of a PXE-patient suggest a possible pulmonal calcification. So far, there exists no clinical data whether PXE patients actually are at high risk of developing pulmonary disorder.


METHODS
In a cross-sectional study, 35 PXE patients and 15 healthy controls underwent a pulmonary function testing, including spirometry, body plethysmography and carbon monoxide diffusing test. Additionally, PXE patients completed a COPD-Assessment-Test (CAT).


RESULTS
We observed in PXE patients normal values for predicted vital capacity (VC%; 96.0±13.0%), predicted total lung capacity (TLC%; 98.2±12.0%) and predicted forced expiration volume (FEV1%; 102.5±15.6%), whereas compared to healthy controls the PXE group showed significant diminished values for carbon monoxide diffusing capacity (DLCO, 7.2 ±1.4mmol/min/kPa vs. 8.6 ±1.5 mmol/min/kPa; p = 0.008) and predicted carbon monoxide diffusing capacity (DLCO%; 79.7±11.5% vs. 87.2±6.6%; p = 0.008). 11/35 (31.4%) PXE patients showed pathological DLCO% values under 75% (68.5%±5.4%).


CONCLUSIONS
PXE patients demonstrated a regular lung function testing, but nevertheless they had impaired CO diffusing parameters, which might be associated with a preclinical state of an interstitial lung disease and a risk for restrictive ventilation disorders.
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Simon
S
Pingel
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Sebastian Gorgonius
SG
Passon
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Kristin Solveig
KS
Pausewang
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Anna Katharina
AK
Blatzheim
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Carmen
C
Pizarro
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Izabela
I
Tuleta
Department of Ophthalmology, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Martin
M
Gliem
Department of Ophthalmology, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Peter
http://orcid.org/0000-0002-0351-6673
P
Charbel Issa
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Nadjib
N
Schahab
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Georg
G
Nickenig
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Dirk
D
Skowasch
Department of Internal Medicine II, University of Bonn, Bonn, North-Rhine-Westphalia, Germany.
Christian Alexander
CA
Schaefer
D000328:Adult; D000368:Aged; D002248:Carbon Monoxide / Q000378:metabolism; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005260:Female; D005541:Forced Expiratory Volume; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000209:etiology* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D011561:Pseudoxanthoma Elasticum / Q000150:complications* / Q000503:physiopathology*; D012129:Respiratory Function Tests; D014797:Vital Capacity
D002248:Carbon Monoxide