Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact

Abstract

Background: Although the pathophysiological defect in primary ciliary dyskinesia (PCD; Siewert's/Kartagener's syndrome) is now well characterised, there are few studies of the impact of the condition upon health function, particularly in later life. This study assesses the health impact of the condition in a large group of patients. In addition, it assesses the similarity in age of diagnosis, symptoms and problems of those with situs inversus (PCD-SI) and those with situs solitus (PCD-SS).

Methods: Postal questionnaire sent to members of the UK Primary Ciliary Dyskinesia Family Support Group. The questionnaire contained the St. George's Respiratory Questionnaire (SGRQ) and the SF-36 questionnaire for assessing health status.

Results: 93 questionnaires were returned, representing a 66% response rate. Replies were received from similar numbers of PCD-SI and PCD-SS. Individuals with PCD-SI did not show a significant tendency to be diagnosed earlier, and neither did they show any difference in their symptoms, or the relationship of symptoms to age. Respiratory symptoms were fairly constant up until the age of about 25, after which there was a slow increase in symptoms, and a decline in health status, patients over the age of 40 being about one and a half standard deviations below the mean on the physical component score of the PCS. Patients diagnosed earlier in life, and hence who had received more treatment for their condition, had better scores on the SGRQ Impact and Activity scores.

Conclusions: PCD is a chronic condition which has a progressively greater impact on health in the second half of life, producing significant morbidity and restriction of life style. Early diagnosis, and hence earlier treatment, may improve symptoms and the impact of the condition.

Figure 1

Age at diagnosis of PCD (ordinate), in relation to current age (abscissa), separately for patients with PCD-SI (open circles, dashed line), and PCD-SS (solid circles, solid line). The fitted lines are lowess curves.

Figure 2

The Symptom scale of the St. George's Respiratory Questionnaire plotted in relation to the age of the respondent. PCD-SS individuals are shown as solid black circles (•) and PCD-SI individuals as open black circles (○). The solid black line is the lowess curve fitted through the data.

Figure 3

The Physical Component Score of the SF-36 Health Status measure, plotted in relation to the age of the respondent. PCD-SS individuals are shown as solid black circles (•) and PCD-SI individuals as open black circles (○). The solid black line (-) is the lowess curve fitted through the data. The dashed black line (- - -) shows the population norm (see text), and the dotted black lines (.....) show one standard deviation above and below the population norm.

Figure 4

The Mental Component Score of the SF-36 Health Status measure, plotted in relation to the age of the respondent. PCD-SS individuals are shown as solid black circles (•) and PCD-SI individuals as open black circles (○). The solid black line (-) is the lowess curve fitted through the data. The dashed black line (- - -) shows the population norm (see text), and the dotted black lines (.....) show one standard deviation above and below the population norm.

Figure 5

The Impact scale of the St. George's Respiratory Questionnaire plotted in relation to the age of the respondent and the time since diagnosis (calculated as Current Age minus Age at diagnosis). Individuals with a time since diagnosis of more than eight years are shown as solid black circles (•), and the lowess curve is shown as a solid black line (-), and those with a time since diagnosis of less than eight years are shown as open black circles (○) and the lowess curve is shown as a dashed black line (- - - -).

Figure 6

Nasal congestion, sinus pain, headache, sore throat, earache and heartburn in relation to age. Symptoms are scored on a scale of 0 (None) to 4 (almost every day) – see text. A small amount of vertical jitter has been added to data points so that individuals are more easily distinguishable. The solid lines are lowess curves.