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Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

ABSTRACT: Cartilage-hair hypoplasia is a syndromic immunodeficiency with short stature, chondrodysplasia, and variable degree of immune dysfunction. Patients with cartilage-hair hypoplasia are prone to recurrent respiratory tract infections, and the prevalence of bronchiectasis ranges from 29 to 52%. Pulmonary complications contribute significantly to the mortality; therefore, regular lung imaging is essential. However, the optimal schedule for repeated lung imaging remains unestablished. We determined the rate and correlates of progression of structural lung changes in a prospectively followed cohort of 16 patients with cartilage-hair hypoplasia. We analyzed clinical, laboratory, and pulmonary functional testing data and performed lung magnetic resonance imaging at a median interval of 6.8 years since previous imaging. Imaging findings remained identical or improved due to disappearance of inflammatory changes in all evaluated patients. Patients with subtle signs of bronchiectasis on imaging tended to have low immunoglobulin M levels, as well as suffered from pneumonia during the follow-up. In conclusion, our results suggest slow if any development of bronchiectasis in selected subjects with cartilage-hair hypoplasia.

SUBMITTER: Vakkilainen S

PROVIDER: S-EPMC8249260 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia with combined immunodeficiency, variable clinical course and increased risk of malignancy. Management of CHH is complicated by a paucity of long-term follow-up data, as well as knowledge on prognostic factors. We assessed clinical course and risk factors for mortality in a prospective cohort study of 80 patients with CHH recruited in 1985-1991 and followed up until 2016. For all patients we collected additional health information from health records and from the national Medical Databases and Cause-of-death Registry. The primary outcome was immunodeficiency-related death, including death from infections, lung disease and malignancy. Standardized mortality ratios (SMRs) were calculated using national mortality rates as reference. Half of the patients (57%, n = 46) manifested no symptoms of immunodeficiency during follow-up while 19% (n = 15) and 24% (n = 19) demonstrated symptoms of humoral or combined immunodeficiency, including six cases of adult-onset immunodeficiency. In a significant proportion of patients (17/79, 22%), clinical features of immunodeficiency progressed over time. Of the 15 patients with non-skin cancer, eight had no preceding clinical symptoms of immunodeficiency. Altogether 20 patients had deceased (SMR = 7.0, 95%CI = 4.3-11); most commonly from malignancy (n = 7, SMR = 10, 95%CI = 4.1-21) and lung disease (n = 4, SMR = 46, 95%CI = 9.5-130). Mortality associated with birth length below -4 standard deviation (compared to normal, SMR/SMR ratio = 5.4, 95%CI = 1.5-20), symptoms of combined immunodeficiency (compared to asymptomatic, SMR/SMR ratio = 3.9, 95%CI = 1.3-11), Hirschsprung disease (odds ratio (OR) 7.2, 95%CI = 1.04-55), pneumonia in the first year of life or recurrently in adulthood (OR = 7.6/19, 95%CI = 1.3-43/2.6-140) and autoimmunity in adulthood (OR = 39, 95%CI = 3.5-430). In conclusion, patients with CHH may develop adult-onset immunodeficiency or malignancy without preceding clinical symptoms of immune defect, warranting careful follow-up. Variable disease course and risk factors for mortality should be acknowledged.

Project description:BackgroundAfter a stroke, a person has an increased risk of recurrent strokes. Effective secondary prevention can provide significant gains in the form of reduced disability and mortality. While considerable efforts have been made to provide high quality acute treatment of stroke, there has been less focus on the follow-up in general practice after the stroke. One strategy for the implementation of high quality, evidence-based treatment is the development and distribution of clinical guidelines. However, from similar fields of practice, we know that guidelines are often not adhered to. The purpose of this study was to investigate to what degree patients who have suffered a stroke are followed up in general practice, if recommendations in the national guidelines are followed, and if patients achieve the treatment goals recommended in the guidelines.MethodsThe study included patients with cerebral infarction identified by the ICD-10 discharge diagnoses I63.0 trough I63.9 in two Norwegian local hospitals. In total 51 patients participated. They were listed with general practitioners in 18 different clinics. The material consists of the general practitioners' (GPs') medical records for these patients in the first year of follow-up; in total 381 consultations.ResultsOf the 381 consultations during the first year of follow-up, 71 (19%) had stroke as the main topic. The blood pressure (BP) target value < 140/90 mmHg was reached by 24 patients (47%). The low density lipoprotein (LDL) cholesterol target value < 2.0 mmol/L was reached by 14 (27%) of the 51 patients. In total six patients (12%) got advice on physical activity and three (6%) received dietary advice. No advice about alcohol consumption was recorded.ConclusionsThe findings support earlier claims that the development and distribution of guidelines alone is not enough to implement a certain practice. Despite being a serious condition, stroke gets limited attention in the first year of follow-up in general practice. This can be explained by the complexity of general practice, where even a serious condition loses the competition for attention to other apparently equally important issues.

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Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study.

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