Emphysema and bronchiectasis secondary to alpha-1 antitrypsin deficiency.

A 47-year-old Caucasian male presented to the chest clinic with a 4-week history of exertional dyspnea. A chest radiograph showed mild hyperinflation without any focal pathology and spirometry showed a mild obstructive defect. In view of symptoms being disproportionate to spirometric and radiologic abnormalities, a thoracic CT scan was obtained. It revealed that there was evidence of bronchiectasis and mild emphysema in basal distribution. Subsequently, he was confirmed to have severe α1-Antitrypsin deficiency. This case illustrates the importance of considering α1-Antitrypsin deficiency in patients with combination of emphysema and bronchiectasis in a basal distribution. Although basal emphysema is well-recognized pulmonary manifestation of α1-Antitrypsin deficiency, it is extremely unusual to have bronchiectasis with very mild degree of emphysema.

Serum carcinoembryonic antigen correlates with severity of idiopathic pulmonary fibrosis.

BACKGROUND AND OBJECTIVE: Idiopathic pulmonary fibrosis (IPF) is the commonest idiopathic interstitial pneumonia and carries a poor prognosis. Epidemiological evidence suggests that patients with IPF have an increased risk of developing lung cancer. Carcinoembryonic antigen (CEA) has a close association with epithelial malignancy. The aim of this study was to evaluate serum CEA concentrations in patients with IPF and to perform correlation with pulmonary function. METHODS: Serum CEA concentrations were measured by two-site sequential chemiluminescent immunometric assay in 41 non-smoking patients with IPF. Patients with a history of gastrointestinal tract malignancy or other disorder known to be associated with raised serum CEA were excluded. RESULTS: A total of 41 patients were evaluated. The mean (±standard deviation) age of patients was 73 ± 7 years. The mean (±standard deviation) forced vital capacity was 88 ± 20% of predicted, and the mean (±standard deviation) diffusing factor for carbon monoxide (DLco) was 52 ± 19% of predicted. Twenty-one (51%) patients had a serum CEA concentration higher than upper limit of the normal range (0-5 ng/mL). CEA concentration was significantly negatively correlated with lung function (P = 0.005; R(2) = 0.20 for forced vital capacity and P = 0.006; R(2) = 0.20 for DLco). Raised CEA level also correlated significantly with the extent of fibrosis. A lung biopsy specimen from a patient with IPF demonstrated strong staining for CEA in metaplastic epithelium lining the honeycombed cysts and respiratory bronchioles. CONCLUSIONS: Serum CEA concentration is elevated in approximately half of patients with IPF and is correlated with disease severity. Immunohistochemical staining reveals that CEA localizes to metaplastic epithelium lining honeycombed bronchioles.

Serum LDH in chronic cough: a potential marker of airway inflammation.

INTRODUCTION AND OBJECTIVES: Lactate dehydrogenase (LDH) is found in almost all tissues of the body and five different isoenzymes are known (LDH-1 to LDH-5). LDH can be elevated in many pathological conditions. We have observed serum LDH to be increased in patients with chronic cough. We wanted to confirm this finding, study the reproducibility and determine the origin of the LDH. METHODS: Patients prospectively seen at the Hull Cough Clinic had total and specific LDH isoenzyme levels in serum determined. A subgroup of patients also had a serum creatine phosphokinase (CK) measured. Patients completed cough symptom scores and the Hull Airway Reflux Questionnaire (HARQ). Spirometry was performed. RESULTS: Eighty-three patients were included. Forty-two percent had LDH values above the reference range and 78% had LDH values in the fourth quartile of the reference range or above. This increase in LDH was predominantly because of a rise in isoenzymes 4 and 5. The increase in LDH was found to be reproducible at 8 weeks. Ten percent had CK values above the normal range. There was no correlation observed between LDH values and the cough scores, HARQ scores or lung function. CONCLUSION: Serum LDH levels are elevated in a substantial proportion of patients with chronic cough. This rise is likely to be due to airway inflammation known to be associated with chronic cough.

Use of serum free light chain analysis and urine protein electrophoresis for detection of monoclonal gammopathies.

BACKGROUND: Serum free light chain (FLC) analysis is used in the prognostic assessment and monitoring of patients with monoclonal gammopathies (MG). Its use in detection of MG is less widespread despite good sensitivity for diseases poorly detected by serum protein electrophoresis (SPE), e.g., FLC disease and AL amyloidosis. FLC analysis may facilitate earlier diagnosis in these diseases. However, if replacing urine protein electrophoresis (UPE) in an initial screening algorithm, this must be balanced against any loss of detection of Bence Jones proteinuria (BJP). METHODS: We assessed the effect of replacing UPE with FLC. Sensitivity of FLC for BJP was assessed in 126 clinical cases where UPE and FLC analyses were performed. Impact on disease detection was assessed from 753 patient sera tested by SPE and FLC and 128 patients matched associated urine samples. RESULTS: Sensitivity of FLC for BJP was 98%. Use of FLC in routine testing increased the number of MG detected by 7%. CONCLUSIONS: Using FLC alongside or in place of UPE can give clinical benefit through earlier diagnosis and hence treatment earlier in the patients' disease.