The Role of Appropriate Advanced Care Directives in Patients With Pulmonary Hypertension

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.

Download Full-text

Probable role of Brain Natriuretic Peptide (BNP) in lung hypertension secondary to scleroderma

Italian Journal of Medicine ◽

10.4081/itjm.2007.1.23 ◽

2013 ◽

pp. 23-25

Author(s):

P. Faggioli ◽

S. Finazzi ◽

E. Vicenzi ◽

L. Giani ◽

M. Rondena ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Progressive Systemic Sclerosis ◽

New Drugs ◽

Positivity Ratio ◽

Probable Role ◽

Biochemical Observation ◽

And Gender ◽

Roche Diagnostics ◽

Worse Prognosis

BACKGROUND Scleroderma, when complicated with pulmonary hypertension (PHT), presents a worse prognosis; recently treatment with new drugs seems to offer good perspectives, especially in early diagnosis and treatment. The standard approach for diagnosing PHT consists in measurement of the pulmonary artery pressure (PAP) by means of echodoppler. AIM OF INVESTIGATION Aim of this work is evaluating the significance of the NT-proBNP parameter, matched to echodoppler, in diagnosing scleroderma PHT. MATERIALS AND METHODS Sixty (60) patients, who came to observation for progressive systemic sclerosis underwent echodoppler in order to measure the PAP (normal values up to 30 mmHg). NT-proBNP was determined on serum sample using ECLIA method by Modular E170 (Roche Diagnostics); manufacturer reference values for age and gender were used. Forty-three (43) patients underwent a further NT-proBNP sampling 5 days later in order to assess parameter stability. RESULTS PHT and non- PHT patients showed statistically different (p < 0,001) medians (126 vs 69 pg/ml). No pathologic values of NT-proBNP were measured in the group with PAP < 30 mmHg, while 27% of cases who had PAP between 30 and 40 showed pathologic concentrations. The positivity ratio increases to 57% in patients showing PAP > 40 mmHg. No relevant correlation (r = 0,2) was found between PAP and NT-proBNP. Mean average between the two sampling groups was 31%. CONCLUSIONS In scleroderma patients, combination of NT-proBNP and PAP seems to improve the diagnosis of pulmonary hypertension, especially in presence of borderline pulmonary pressure values. We therefore propose the biochemical observation of NT-proBNP when PAP is > 30 mmHg and in monitoring the evolution of the pathology.

Download Full-text