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Alpha 1-antitrypsin deficiency. --- Alpha 1-antitrypsin deficiency --- Alpha 1-antitrypsin deficiency --- Diagnosis. --- Treatment.

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alpha 1-Antitrypsin Deficiency --- Liver Diseases --- diagnosis

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Introduction: The main diseases associated with alpha-1 antitrypsin deficiency (AATD) are panacinar emphysema and liver disease (which can evolve to cirrhosis). Fragmentary evidence also suggests the existence of a vascular phenotype (aneurysms, dissections, increased aortic stiffness…). Following the incidental finding of an AATD in a 42 years old patient with an isolated systolic highly resistant form of hypertension, we aimed to start a pilot study to evaluate the relation between AATD, blood pressure and /or arterial stiffness. Materials and methods: In the index case, arterial stiffness was assessed by measuring the pulse wave velocity (PWV). Microvascularisation was assessed using a non-mydriatic camera to evaluate retinal capillaries and a sublingual microscope to evaluate sublingual capillaries. Secondly, ambulatory blood pressure and PWV (carotid-femoral /brachial-ankle) were assessed in a cohort of 16 patients with AATD, recruited in the Cliniques Universitaires Saint-Luc (UCL) and the UZ-Gasthuisberg (KUL). Results: PWV in the index patients was measured at 14.2 m/s, which is much higher than the mean of matched hypertensive controls of the same age rage (9.8 m/s). Retinal and sublingual capillaries were normal. Of the 16 patients that participated to the study, 9 had a heterozygote (HZ) mutation and 7 a homozygote (HH) mutation. Mean office blood pressure was 133 ±20/81 ±17 mmHg, higher in the HZ group (137± 18/82± 14 mmHG) than in the HH goup (128±22 / 79±20 mmHg). Mean carotid-femoral PWV in the UCL cohort was 8±1.6 m/s, lower in the HZ group (7.6-± 1.9 vs 8.5 ±1.3 m/s)). When comparing these results to those obtained in a multicentric European reference population (8.8m/s). The mean of HH (8.5 vs 20.3 m/s) and HZ (7.6 vs 8.8 m/s) subgroups were also lower than the reference values. Finally, the mean brachial-ankle PWV in the KUL cohort was 14, 3±4 m/s, lower in the HZ group (11.7±1.7 vs 15.5±5 m/s), in a sample were the mean age of the HZ group is lower than that of the HH group (44 vs 63 years). None of the aforementioned differences was statistically significative. Conclusion: PWV of our patient was much higher than the reference values. However, the pilot study did not disclose statistically significant differences between HH and HZ groups or with the reference values. A larger scale study, using the gold standard measure of PWV (carotid-femoral) should allow us to achieve a higher statistical power to prove or disprove the hypothesis of an association between AATD, blood pressure and arterial stiffness. Introduction : les manifestations classiques du déficit en alpha-1 antitrypsine (AAT) sont l’atteinte pulmonaire (emphysème panacinaire) et l’atteinte hépatique (pouvant aller jusqu’à la cirrhose). Des données fragmentaires suggèrent également l’existence d’un phénotype vasculaire (anévrysme, dissections, rigidité artérielle,). Suite à la découverte fortuite d’un déficit en AAT chez un patient de 42 ans présentant une hypertension artérielle systolique isolée particulièrement résistante, nous avons décidé de réaliser une étude pilote afin d’étudier le lien entre, d’une part, le déficit en alpha-1 antitrypsine, et d’autre part, la pression artérielle et/ou la rigidité artérielle. Matériels et méthodes : la rigidité artérielle du patient a été étudiée en mesurant la vitesse de l’onde de pouls (VOP). La micro-vascularisation a également été analysée en examinant les capillaire rétiniens (caméra non mydriatique- et sublinguaux (microscope sublingual). Dans un second temps, la mesure de la pression artérielle en consultation ambulatoire et la mesure de la VOP (Carotido-fémorale/ « brachial ankle) ont été réalisées dans une cohorte de 16 patients présentant un déficit en AAT recrutés aux Cliniques Universitaires Saint-Luc (UCL) et à l’UZ-Gasthuisberg (KUL). Résultats : La VOP chez le patient a été mesurée à 14,2 m/s, ce qui est bien plus élevé que la moyenne des sujets hypertendus masculins de même âge (9,8 m/s). L’étude de la micro-vascularisation rétinienne et sublinguale n’a pas montré d’anomalies. Sur les 16 patients recrutés dans l’étude, 9 présentent une mutation hétérozygote (HZ) et 7 une mutation homozygote (HH). La pression artérielle moyenne en consultation est de 133±20 /81±17mmHg, plus élevée chez les HZ (137±18/ 82 ±14 mmHg) que les HH (128±22 /79±20 mmHg). La VOP carotido-fémorale dans la cohorte de l’UCL est de 8± 1.6 m/s en moyenne, plus basse chez les HZ (7.6 ±2.9 vs 8.5 1.3 m/s). Si on compare ces résultats avec ceux d’une étude multicentrique Européenne, on remarque leur moyenne (8m/s) est similaire, voire inférieure à celle de l’étude (8.8 m/s). Les moyennes des sous-groupes HH (8.5 vs 10.3 m/s) et HZ (7.6 vs 8.8 m/s) sont également plus basses que les valeurs de référence. Enfin la VOP « Brachial-ankle » dans la cohorte de la KUL, est en moyenne de 14,3 ± 4 m/s, plus basse également chez les HZ (11.7 ±1.7 VS 15.5 ±5 m/s) dans un échantillon où l’âge moyen des HZ est inférieur à celui des HH (44 vs 63 ans). Aucune des différences susmentionnées n’était statistiquement significative. Conclusion : La VOP du patient index était largement supérieure aux normes. L’étude pilote n’a pas mis en évidence de différences statistiquement significative entre les homozygotes et hétérozygotes, ni avec le groupe contrôle de la littérature. Une étude à plus grande échelle, utilisant la méthode gold-standard (carotido-fémorale) de la mesure de la VOP devrait permettre d’acquérir une plus grande puissance statistique afin de confirmer ou d’infirmer définitivement l’hypothèse d’une association entre le déficit en AAT, la tension artérielle et la rigidité artérielle.

alpha 1-Antitrypsin Deficiency --- Hypertension Resistant to Conventional Therapy --- Pulmonary Emphysema

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Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases. Prof. Dr. Francisco Dasí Guest Editor

Medicine --- Pharmacology --- standard diagnosis --- reference centres --- clinical presentation --- cilia --- primary ciliary dyskinesia --- alpha-1 antitrypsin deficiency --- rare respiratory diseases --- Mycobacterium avium --- Mycobacterium intracellulare --- nodular bronchiectasis --- non-tuberculous mycobacteria --- pulmonary aspergillosis --- rare pulmonary disease --- miRNA expression --- exhaled breath condensate --- sputum --- severity --- pulmonary exacerbation --- alpha1 antitrypsin deficiency --- augmentation therapy --- replacement therapy --- rare diseases --- gene therapy --- alpha-1-antitrypsin deficit --- cystic fibrosis --- neonatal respiratory distress --- laterality defect --- orphan diseases --- PCD --- immunofluorescence --- antibody --- ALI culture --- bio-resource --- primary nasal epithelium --- diagnostics --- Alpha-1 antitrypsin deficiency --- liver disease --- glutamate-oxaloacetate transaminase --- glutamate-pyruvate transaminase --- gamma-glutamyl transpeptidase --- resilience --- active lifestyle --- stress levels --- infection control measure --- self-quarantine --- flow cytometry --- nasal epithelium --- oxidative stress --- reactive oxygen species --- endoplasmic reticulum stress --- antioxidant therapies --- idiopathic pulmonary fibrosis --- chronic obstructive pulmonary disease --- bronchiectasis --- asthma --- emphysema --- alpha1-antitrypsin deficiency --- transient elastography --- n/a

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Dear Colleagues, A rare disease, also known as an orphan disease, is any disease that affects a small percentage of the population. Although definitions vary from continent to continent, according to the European Union, rare diseases are those with a prevalence of less than 1 in 2000 people. Rare diseases are, in general, chronic, debilitating diseases, which in many cases threaten patients’ lives. It is estimated that 1–2 million people in the European Union are affected by a rare respiratory disease, which is a public health problem. Due to the low prevalence and severity of many of these diseases, whose symptoms often initially manifest in childhood, combined efforts are needed to improve our knowledge of the pathophysiology of these diseases that will lead to the development of new, more effective treatments. Therefore, since rare respiratory diseases represent an important field in medicine, we propose this Special Issue to promote the dissemination of the latest advances in basic and clinical research in these diseases. Prof. Dr. Francisco Dasí Guest Editor

Medicine --- Pharmacology --- standard diagnosis --- reference centres --- clinical presentation --- cilia --- primary ciliary dyskinesia --- alpha-1 antitrypsin deficiency --- rare respiratory diseases --- Mycobacterium avium --- Mycobacterium intracellulare --- nodular bronchiectasis --- non-tuberculous mycobacteria --- pulmonary aspergillosis --- rare pulmonary disease --- miRNA expression --- exhaled breath condensate --- sputum --- severity --- pulmonary exacerbation --- alpha1 antitrypsin deficiency --- augmentation therapy --- replacement therapy --- rare diseases --- gene therapy --- alpha-1-antitrypsin deficit --- cystic fibrosis --- neonatal respiratory distress --- laterality defect --- orphan diseases --- PCD --- immunofluorescence --- antibody --- ALI culture --- bio-resource --- primary nasal epithelium --- diagnostics --- Alpha-1 antitrypsin deficiency --- liver disease --- glutamate-oxaloacetate transaminase --- glutamate-pyruvate transaminase --- gamma-glutamyl transpeptidase --- resilience --- active lifestyle --- stress levels --- infection control measure --- self-quarantine --- flow cytometry --- nasal epithelium --- oxidative stress --- reactive oxygen species --- endoplasmic reticulum stress --- antioxidant therapies --- idiopathic pulmonary fibrosis --- chronic obstructive pulmonary disease --- bronchiectasis --- asthma --- emphysema --- alpha1-antitrypsin deficiency --- transient elastography --- standard diagnosis --- reference centres --- clinical presentation --- cilia --- primary ciliary dyskinesia --- alpha-1 antitrypsin deficiency --- rare respiratory diseases --- Mycobacterium avium --- Mycobacterium intracellulare --- nodular bronchiectasis --- non-tuberculous mycobacteria --- pulmonary aspergillosis --- rare pulmonary disease --- miRNA expression --- exhaled breath condensate --- sputum --- severity --- pulmonary exacerbation --- alpha1 antitrypsin deficiency --- augmentation therapy --- replacement therapy --- rare diseases --- gene therapy --- alpha-1-antitrypsin deficit --- cystic fibrosis --- neonatal respiratory distress --- laterality defect --- orphan diseases --- PCD --- immunofluorescence --- antibody --- ALI culture --- bio-resource --- primary nasal epithelium --- diagnostics --- Alpha-1 antitrypsin deficiency --- liver disease --- glutamate-oxaloacetate transaminase --- glutamate-pyruvate transaminase --- gamma-glutamyl transpeptidase --- resilience --- active lifestyle --- stress levels --- infection control measure --- self-quarantine --- flow cytometry --- nasal epithelium --- oxidative stress --- reactive oxygen species --- endoplasmic reticulum stress --- antioxidant therapies --- idiopathic pulmonary fibrosis --- chronic obstructive pulmonary disease --- bronchiectasis --- asthma --- emphysema --- alpha1-antitrypsin deficiency --- transient elastography