High prevalence of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia

OBJECTIVE: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder causing mucocutaneous telangiectases and visceral arteriovenous malformations (AVMs). Pulmonary hypertension (PH) is considered an uncommon complication of HHT whose impact on the survival of these patients is currently unknown. METHODS: From January 1995 to December 2008, 29 hospitalized patients with definite HHT were included and followed until January 2011. Data on demographics, clinical symptoms and survival were recorded. PH was classified according to echocardiographic probability. RESULTS: A CT angiogram was performed in 24 of the 29 patients with HHT and AVMs were detected in 16 of them (67%): hepatic in 58%, pulmonary in 33% and spinal in 3%; 37% had both pulmonary and hepatic AVMs. Transthoracic Doppler echocardiography (TTE) was performed in 21 patients. PH was considered possible in 4 (14%) and probable in 9 (31%). The mean age at diagnosis was lower in patients with PH than in patients without PH (54±16.5 years vs 73±8.8 years, p=0.002). PH was more prevalent in patients with AVMs (56 vs. 23%, p=0.036). The mean follow-up of the entire cohort was 6±4.4 years (range: 2 months-17 years), during this time 18 patients died (62%; mean age 73±8.1 years). Patients with PH died at a younger age (68±8.4 vs. 79±2.7 years, p=0.015) than those without PH. CONCLUSIONS: PH is a severe condition that significantly reduces survival on HHT patients. PH should be suspected in all HHT patients with dyspnea and hepatic AVMs

Capillaroscopic differences in primary biliary cholangitis with or without scleroderma and raynaud's phenomenon, a preliminary study

Background A high proportion of capillaroscopic alterations have been reported in patients with Primary Biliary Cholangitis (PBC) (1). Association with an abnormal capillaroscopic pattern has been described in patients with PBC and Raynaud’s phenomenon (RP), possibility for anticentromere antibodies (ACA) and overlap with another systemic autoimmune disease, the most frequent being Systemic Sclerosis (SSc) (association with a prevalence up to 17% of PBC patients called Reynolds Syndrome) (2). However, studies are scarce and not very detailed in terms of the differential capillaroscopic findings between patients with PBC with/without SSc and with/without RP. Objectives To analyze the differences between clinical, serologycal and capillary morphological alterations observed in three different groups of patients with PBC: patients with PBC alone (PBC-A), patients with PBC and RP (PBC-RP) and patients with Reynolds Syndrome (PBC-RS). Methods Periungual capillaroscopy was performed on 12 patients with PBC-A, 10 with CBP-RP and 13 with PBC-RS, who received follow-up in our systemic diseases and hepatology monographic outpatients. Capillaroscopy was made with USB Digital Microscope Dino-Lite ® epiluminiscence video. The capillaroscopic alterations were according to a semiquantitative method. All patients were given a detailed clinical evaluation. Variables related to clinical, serological and capillaroscopic parameters were collected. A comparative study was done. Results Of the 36 patients analyzed, 32 (88.9%) were women, with no sex differences between the three groups. The median age at PBC diagnosis was 50 + -12.8 years in PBC-A group, 60.5 + -15 years in PBC-RP and 62 years in PBC-RS, showing significant difference between the first group and the other two (p 0.039). 14 patients had other systemic diseases: 1 hemolytic anemia, 1 SLE, 2 Psoriasis, 1 PTI and 9 Sicca. The only clinical parameter with significant difference between the three groups was association with Sicca: 3 (25%) PBC-A, 5 (50%) PBC-RP and 12 (85.7%) PBC-RS, p 0.002. Twenty five (73.5%) patients had positive AMA, with no differences between groups. All 11 patients who had ACA were from the PBC-RS group. Statistically significant differences observed between the capillaroscopy parameters were the presence of capillary dilatations [5 (41.7%) PBC-A, 5 (50%) PBC-RP, 11 (84.6%) PBC-RS, p 0.03] and pathological hemorrhages [1 (8.3%) in PBC-A, 2 (22.2%) PBC-RP, 11 (78.6%) PBC-RS, p <0.001] as well as the presence of a different capillaroscopic pattern (p <0.001): normal or nonspecific in 9 (75%) of PBC-A, 4 (44.4%) PBC-RP and 2 (15.4%) PBC-RS; connective tissue disease suggestive pattern in 3 (25%) of PBC-A, 5 (55.6%) of PBC-RP and 1 (7.7%) of PBC-RS; sclerodermiform pattern in 10 (76.9%) PBC-RS, and none of the other two groups. We did not find significant differences in the presence of simple tortuosities, complex tortuosities, branched capillaries or capillary loss. No capillaroscopic parameters correlated with other systemic diseases. Conclusion This preliminary study shows an evolutionary trend in some clinical (age at PBC diagnosis, sicca asocciation) and capillaroscopic parameters (capillary dilatation, hemorrhages, general capillaroscopic pattern) in patients with PBC-A, PBC-RP and PBC-RS, which may suggest three different phenotypic expressions of the same pathogenic process