Telangiectasia hemorrágica hereditaria: utilidad de los anticuerpos monoclonales en su tratamiento

The Hereditary Hemorrhagic Telangiectasia is a progressive multisystem vascular dysplasia characterized by mucocutaneous telangiectasias and arteriovenous connections. Its most common symptomatology is recurrent epistaxis, with iron deficiency anemia, so the basis of the treatment is the iron therapy. Sometimes the treatment is insufficient so consider new targeted therapies. We report a case of HHT with poor outcome by the presence of pulmonary arteriovenous malformations and recurrent epistaxis, and the compassionate use of a monoclonal antibody (bevacizumab) as a therapeutic alternative.La Telangiectasia Hemorrágica Hereditaria (THH) es una displasia vascular multisistémica progresiva caracterizada por telangiectasias mucocutáneas y conexiones arteriovenosas. Su clínica más frecuente son las epistaxis recurrentes, con anemia ferropénica, por lo que la base de su tratamiento es la ferroterapia. En ocasiones el tratamiento disponible es insuficiente planteándose nuevos tratamientos dirigidos. Presentamos un caso de THH con mala evolución por la presencia de malformaciones arteriovenosas pulmonares y epistaxis recurrentes, y el uso compasivo de un anticuerpo monoclonal (bevacizumab) como alternativa terapéutica

Registry of the Spanish Network for Systemic Sclerosis: Survival, Prognostic Factors, and Causes of Death.

Systemic sclerosis (SSc) is a rare, multisystem disease showing a large individual variability in disease progression and prognosis. In the present study, we assess survival, causes of death, and risk factors of mortality in a large series of Spanish SSc patients. Consecutive SSc patients fulfilling criteria of the classification by LeRoy were recruited in the survey. Kaplan-Meier and Cox proportional-hazards models were used to analyze survival and to identify predictors of mortality. Among 879 consecutive patients, 138 (15.7%) deaths were registered. Seventy-six out of 138 (55%) deceased patients were due to causes attributed to SSc, and pulmonary hypertension (PH) was the leading cause in 23 (16.6%) patients. Survival rates were 96%, 93%, 83%, and 73% at 5, 10, 20, and 30 years after the first symptom, respectively. Survival rates for diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc were 91%, 86%, 64%, and 39%; and 97%, 95%, 85%, and 81% at 5, 10, 20, and 30 years, respectively (log-rank: 67.63, P < 0.0001). The dcSSc subset, male sex, age at disease onset older than 65 years, digital ulcers, interstitial lung disease (ILD), PH, heart involvement, scleroderma renal crisis (SRC), presence of antitopoisomerase I and absence of anticentromere antibodies, and active capillaroscopic pattern showed reduced survival rate. In a multivariate analysis, older age at disease onset, dcSSc, ILD, PH, and SRC were independent risk factors for mortality. In the present study involving a large cohort of SSc patients, a high prevalence of disease-related causes of death was demonstrated. Older age at disease onset, dcSSc, ILD, PH, and SRC were identified as independent prognostic factorsYe