PURPOSE: HHT is an autosomal dominant disorder characterized by arteriovenous malformations (AVMs) commonly affecting the pulmonary circulation. Dyspnea is reported in HHT series of pulmonary AVM(PAVM) patients in approximately 50%, and interventions targeted at PAVM closure are believed to be helpful. Other etiologies for dyspnea have not been studied in this population.
METHODS: Retrospective chart and database review of 1000 patients, 650 with definite or likely HHT as defined by Clinical Diagnostic Criteria, at an HHT Center of Excellence from 1997-2010. Main objectives of the data analysis were to determine the prevalence of dyspnea, nature of underlying lung disease, and dyspnea etiologies.
RESULTS: We included 944 patients, including 650 with HHT of whom 216 had PAVM. Dyspnea (Medical Research Council Scale ≥ 1) was more prevalent in the HHT group with PAVM(89/216,41%) than without(115/434, 26.5%,p<0.001). Fifty patients (17%) reported dyspnea in the non-HHT group(p<0.01). There was a greater prevalence of anemia (hemoglobin <130 g/L) in HHT patients (164/650,25%) compared to non-HHT (44/294, 15%,p<0.001), with no significant difference between patients with and without PAVM (23% vs. 26.5%, p>0.05). The most common other pulmonary diagnosis among the three groups was asthma with no significant difference in prevalence observed among the three groups: HHT patients with and without PAVM (12% v. 15.5%, p>0.05) compared to the non-HHT group (10.5%, p>0.05). Age, sex, prevalence of other lung disease (clinical and radiographic) and pulmonary function were not significantly different among the three groups. In HHT patients, 204 (31%) reported dyspnea, 44% of those with dyspnea had PAVMs, 22.5% had anemia, 10% had asthma, and another 4.5% had other lung disease or radiographic abnormalities, leaving 19% of unexplained dyspnea.
CONCLUSION: Dyspnea was frequently reported in HHT patients, associated with the presence of PAVMs. Dyspnea in the non-PAVM HHT patients was multi-factorial partly due to asthma, anemia, other lung disease but unexplained in approximately 20% of patients.
CLINICAL IMPLICATIONS: The prevalence of dyspnea in HHT patients is significant but not well characterized and further study is required.
DISCLOSURE: Dmitry Rozenberg, No Financial Disclosure Information; No Product/Research Disclosure Information