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Results for “Emphysema Phenotype”

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PubMed1991

[Replacement therapy of emphysema caused by alpha 1-antitrypsin deficiency].

The most common feature of alpha1-antitrypsin (alpha 1 AT) deficiency is pulmonary emphysema, which becomes manifest in the third to fifth life decades in most subjects with PiZZ phenotype. In recent years, replacement therapy with alpha 1 AT from the plasma of blood donors has been developed. We report the protocol of treatment which has begun to be used in our center, now including two patients. We discuss inclusion criteria, the treatment schedules, the adverse side-effects and the future outlook for this type of therapy.

Aged↗
PubMed1984

Alpha 1-antitrypsin deficiency: some personal experiences.

A short review is given on the discovery of the alpha 1-antitrypsin deficiency, a hereditary metabolic defect, in 1963, its biochemical identification, the recognition of its typical clinical manifestations and effects on lung physiology. Several genetic variants are mentioned. The gradual development of the concept of proteolytic digestion of lung elastin by excess of leucocyte elastase as a basic phenomenon in the pathogenesis of emphysema is discussed in some detail.

History, 20th Century↗
PubMed1988

[Autoimmune pemphigus combined with alpha 1-antitrypsin deficiency].

It has been demonstrated experimentally that the bullae observed in autoimmune pemphigus are due to the action of proteases. So far, no case of pemphigus associated with deficiency in antiprotease has been reported. We present a case of pemphigus associated with familial deficiency in alpha 1-antitrypsin (alpha 1-AT), a major human body antiprotease. A 35-year old man presented with pemphigus preceded during 18 months, and accompanied by pruritus. The lesions were polymorphous, being made of solitary bullae, circinate vesiculobullae and squamous scabie plaques. Histopathological examination showed an intraepidermal bulla with acantholysis, a very spongiosis. The diagnosis of autoimmune pemphigus was confirmed by fluorescence of the epidermis in IgG and C3 and by the presence of antibodies directed against the intracellular substance. The initial treatment, which consisted of prednisolone 10 mg/kg/day and 10 plasma exchanges, was rapidly successful, but several relapses occurred thereafter. Two years after the pemphigus was diagnosed, a panlobular emphysema was discovered which made it possible to demonstrate a severe familial deficiency in alpha 1-AT of the Pi phenotype. This is the first published case of alpha 1-AT deficiency associated with autoimmune pemphigus. In our patient the skin disease presented as herpetiform pemphigus (initial features of dermatitis herpetiformis, followed by misleading polymorphous lesions, rare acantholytic cells, good response to corticosteroids), but there was no eosinophilic spongiosis. The frequency of alpha1-AT deficiency (estimated at 1 in 1,000 in northern Europe) and the lack of published cases with such an association may suggest a pure coincidence.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1983

Alpha 1 antitrypsin deficiency: the clinical and physiological features of pulmonary emphysema in subjects homozygous for Pi type Z. A survey by the British Thoracic Association.

Hereditary deficiency of alpha 1 antitrypsin, the main serum inhibitor of proteolytic enzymes is associated with pulmonary emphysema of early onset. A multicentre survey of this disorder was started in 1976 and details of 166 subjects homozygous for the Z phenotype form the main body of this report. There were 126 index cases who were identified through chest clinics and 40 non-index cases who were identified through family studies. The index cases and many of the non-index cases had severe radiological and physiological abnormalities. A history of cigarette smoking had a significant effect upon the prognosis, but sex and occupational exposure to dust or fumes did not. There was a wide variance in lung function even among those who had never smoked.

Adult↗
PubMedDate not supplied

Alpha-1 antitrypsin deficiency and computed tomography findings.

OBJECTIVE: To investigate the severity of bronchiectasis and associated emphysema and the correlation with phenotype in patients with Alpha-1 antitrypsin deficiency. METHODS: The scoring system of Ooi and his colleagues for bronchiectasis was modified to include the degree of dilatation of bronchi in affected segments and degree of emphysema. This was applied to 26 high-resolution computed tomography thorax scans of the study population. All criteria were scored on a scale of 0-3. RESULTS: Nine patients (35%) were female and 17 (65%) were male. The median age was 56 years (range: 17-76 years). Twenty-one patients had a ZZ phenotype, 3 patients had an MZ phenotype, and 2 patients had an SZ phenotype. The median forced expiratory volume in 1 second/forced vital capacity ratio was 43% (range: 24%-87%). A total of 156 lobes were assessed, and 38 (24%) had evidence of bronchiectasis. The overall median total score in affected patients for the extent of bronchiectasis was 2, and all had a ZZ phenotype. Fourteen patients (54%) had a degree of dilatation score of 1 or more, all had a ZZ phenotype, and 4 (15%) had no evidence of emphysema. Bronchiectasis was seen most commonly affecting the upper lobes. CONCLUSION: The ZZ phenotype was associated with bronchiectasis most commonly affecting the upper lobes, with moderate emphysema throughout all lobes. Numbers of patients having the SZ and MZ phenotypes are too small to derive accurate conclusions, but none had evidence of bronchiectasis.

Adolescent↗
PubMed2006

Deficient alpha-1-antitrypsin phenotypes and persistent airflow limitation in severe asthma.

BACKGROUND: Persistent airflow limitation is common among patients with severe asthma, but its pathogenesis has not been fully clarified. Severe alpha-1-antitrypsin (AAT) deficiency is a risk factor of chronic airflow limitation and emphysema, and partially deficient phenotypes have been associated with an accelerated decline in lung function. We hypothesized that partial deficiency of AAT (non-PiM AAT phenotype) is a risk factor of persistent airflow limitation in asthma. METHODS: In 122 patients with severe asthma (86 females; age (median (range)): 44.0 yr (18-75)) postbronchodilator FEV1 and FEV1/VC were measured and the AAT phenotype was determined. Persistent airflow limitation was defined as postbronchodilator FEV1 or FEV1/VC < 75% pred. with TLC > 75% pred. RESULTS: Six patients (4.9%) had a non-PiM phenotype (1 MF, 3 MS, 1 MZ and 1 SZ). Of the 58 patients with persistent airflow limitation only 1 patient (1.7%) had a non-PiM phenotype vs. 7.8% among the patients without persistent airflow limitation (P = 0.21). Postbronchodilator FEV1/VC (% pred.) was higher in the non-PiM patients than in the PiM patients (P = 0.02), the other lung function parameters were not different. Linear regression analysis showed no association between AAT phenotype and FEV1% predicted (P = 0.26). CONCLUSIONS: AAT heterozygoty does not seem to be an important risk factor of persistent airflow limitation in patients with asthma. Although confirmation by longitudinal follow-up studies with larger sample sizes is needed, these results suggest that routine assessment of the AAT phenotype is not indicated in asthmatic patients even if they exhibit fixed airflow limitation.

Adolescent↗
PubMed1978

Cockayne's syndrome and emphysema.

A 5-year-old boy with Cockayne's syndrome is described. In addition to the recognised clinical features, he presented with severe fixed airways obstruction, and investigations confirmed clinical and physiological emphysema. In a disorder associated with many of the features of aging, it is probably that the presence of relative alpha-1-antitrypsin deficiency (1.5 g/l) in a child with PiMZ phenotype, contributed to his severe lung disease.

Airway Obstruction↗
PubMed1980

[Pulmonary emphysema, hepatic lesions, and insulin-dependent diabetes in a patient with alpha-1-antitrypsin (Pi ZZ) deficiency (author's transl)].

A 47-year-old patient with panlobular emphysema and insulin-dependent diabetes had an alpha-1-antitrypsin phenotype Pi ZZ deficiency. Liver function tests were abnormal, and postmortem examination of the liver demonstrated abnormal intrahepatocytic globules of A1AT (a typical finding when the allele Z is present), but also fibrosis with steatosis. The patient's sister, Pi ZZ, had neither diabetes nor bronchopneumopathy, and no anomalies in liver function. Needle puncture biopsy of the liver had not been conducted. The phenotype Pi ZZ is typically associated with panlobular emphysema in adults, and cholestatic hepatitis in children. From reports in the published literature, it appears that isolated hepatic lesions or those associated with emphysema are rare. The fortuitous association of diabetes and hepatic lesions in this typical case of pulmonary affection in an adult is discussed.

Diabetes Complications↗
PubMed1982

A new anodal alpha 1-antitrypsin variant associated with emphysema: Pi Bsaskatoon.

A new anodal alpha 1-antitrypsin (alpha 1 AT) variant was identified in a 48-yr-old woman with severe pulmonary emphysema. Isoelectric focusing produced extra bands lying between those of the Pi B and Pi C variants. The new variant was present in 2 of her 3 siblings, 5 of 11 offspring, and probably in her father, all in the heterozygous state. Mean serum alpha 1 AT concentrations and elastase inhibitory capacities were the same in variant and M offspring. The father had reported emphysema, the 2 variant siblings had documented emphysema, and 1 of 5 variant offspring had an area of focal emphysema. The Pi type M sibling and the remaining 10 offspring had no emphysema. Despite normal concentrations and activities, this new variant, which has been designated "Bsaskatoon," may be associated with the development of emphysema within this family.

Female↗
PubMed1976

Relation of alpha-1-antitrypsin phenotype to the performance of pulmonary function tests and to the prevalence of respiratory illness in a working population.

Individuals with severe alpha-1-antitrypsin (alpha1AT) deficiency (phenotype Pi ZZ) are abnormally liable to develop emphysema, but it is uncertain whether those with partial alpha1AT deficiency (phenotypes Pi MS and MZ) are similarly susceptible. This study was undertaken to determine the frequency of the various Pi phenotypes in a working population in Northern Ireland and to compare the performance of simple pulmonary function tests and prevalence of respiratory symptoms and chest illness between different phenotypes. The population sample consisted of 1995 working men and women aged between 35 and 70 years. The MRC Questionnaire (1966) was used to assess respiratory symptoms, a forced expiratory spirogram was recorded, and a blood sample was analysed for alpha1AT phenotype by acid starch gel electrophoresis and antigen-antibody crossed electrophoresis in every case. The percentage frequencies of the alpha1AT phenotypes were: Pi MM 86-5; MS 7-97; MZ 3-86; IM 0-6; FM 0-4; SZ 0-25; M 0-15; SS 0-1; Z 0-05; MP 0-05; FS 0-05. Respiratory symptoms and a history of previous chest illness occurred with similar frequency among the Pi M, MS, and MZ phenotypes, and a comparison of the regression coefficients for FEV1, FVC, and MMF on age for each phenotype group showed no significant differences between them overall, or when subdivided according to smoking habits or dust exposure. These findings provide no evidence that individuals of phenotype Pi MS or MZ are more than usually liable to develop chronic airways obstruction.

Adult↗
PubMed1980

A matched-pair study of the leukocyte elastase-like activity in normal persons and in emphysematous patients with and without alpha 1-antitrypsin deficiency.

The elastase-like activities in whole cell extracts of neutrophilic polymorphonuclear leukocytes of 10 emphysematous patients with alpha 1-antitrypsin deficiency (PiZ) and of 7 subjects with alpha 1-antitrypsin deficiency (PiZ or PiSZ) without emphysema were the same as the activities of healthy nondeficient subjects (PiMM) matched according to age, sex, and smoking history. In 16 emphysematous patients without alpha 1-antitrypsin deficiency (PiMM) however, the leukocyte elastase-like activity tended to be higher than that of normal control subjects. We concluded that in persons with alpha 1-antitrypsin deficiency, the leukocyte elastase-like activity is not a deciding factor in the development of emphysema. In persons without alpha 1-antitrypsin deficiency, however, the leukocyte elastase-like activity may be a contributing factor in the development of this disease. Variations in specific anti-leukocyte-elastase-like activity of alpha 1-antitrypsin, which might play a role in the pathogenesis of emphysema, were not found.

Adult↗