Amiloidosis cardíaca por cadenas ligeras y por transtirretina: características clínicas, historia natural y predictores pronósticos / Light chain and transthyretin cardiac amyloidosis: Clinical characteristics, natural history and prognostic factors

Antecedentes y objetivos: La amiloidosis cardíaca (AC) por cadenas ligeras (AC-AL) y por transtirretina (AC-ATTR) son los dos subtipos más frecuentes de la enfermedad. Nos propusimos caracterizar clínicamente estas entidades y analizar su pronóstico.Material y métodosRealizamos una revisión retrospectiva de todos los pacientes diagnosticados con AC entre 1998 y 2018 en un centro español. Además de recoger las características clínicas y los resultados de las pruebas complementarias al diagnóstico, analizamos la supervivencia y la incidencia de desenlaces clínicos adversos.ResultadosIdentificamos 105 pacientes con AC, 65 con AC-ATTR y 40 con AC-AL. La edad media era de 74,4 años; el 24,8% eran mujeres. En ambos grupos la insuficiencia cardíaca (IC) fue la forma de presentación clínica más frecuente (55,2%). Los hallazgos electrocardiográficos más prevalentes fueron el patrón de pseudoinfarto (68,5%) y un índice de Sokolow-Lyon < 1,5 mV (67,7%), sin diferencias entre los dos subtipos. La supervivencia a 1, 3 y 5 años fue del 43,3%, 40,4% y 35,4%, respectivamente, en pacientes con AC-AL y del 85,1%, 57,3% y 31,4% en pacientes con AC-ATTR (p = 0,004). El subtipo AC-AL (HR 3,41; IC 95% 1,45-8,06; p = 0,005), el ingreso previo por IC (HR 4,25; IC 95% 1,63-11,09; p = 0,003) y una clase NYHA III-IV (HR 2,76; IC 95% 1,09-7,03; p = 0,033) fueron predictores independientes de mortalidad, mientras que el tratamiento betabloqueante se asoció con una mayor supervivencia (HR 0,23; IC 95% 0,09-0,59; p = 0,002).ConclusionesExisten ciertas diferencias en la presentación clínica de los pacientes con AC-AL y AC-ATTR. Ambas entidades, y muy especialmente la AC-AL, presentan un pobre pronóstico vital. (AU)

Introduction and objectives: Light-chain amyloidosis (AL-CA) and transthyretin amyloidosis (ATTR-CA) are the most common types of cardiac amyloidosis (CA). We sought to study the clinical characteristics and prognosis of both diseases.MethodsWe conducted a single-centre, retrospective review of all patients diagnosed with CA between 1998 and 2018. Clinical characteristics, complementary tests, survival and other adverse clinical events were studied.ResultsWe identified 105 patients with CA, 65 ATTR-CA and 40 AL-CA. Mean age was 74.4 years; 24.8% were women. In both groups, heart failure was the most frequent clinical presentation (55.2%). The most prevalent electrocardiographic findings were the pseudoinfarct pattern (68.5%) and a Sokolow-Lyon index < 1.5 mV (67.7%), with no differences between the two subtypes of CA. One-year, 3-year, and 5-year survival was 43.3%, 40.4% and 35.4%, respectively, in AC-AL patients, and 85.1%, 57.3% and 31.4% in AC-ATTR patients (p = 0.004). AL-CA subtype (HR 3.41; 95% CI 1.45-8.06; p = 0.005), previous admission for heart failure (HR 4.25; 95% CI 1.63-11.09; p = 0.003) and a NYHA class III-IV (HR 2.76; 95% CI; 1.09-7.03; p = 0.033) were independent predictors of mortality, while beta-blocker therapy was associated with longer survival (HR 0.23; 95% CI 0.09-0.59; p = 0.002).ConclusionsDifferences exist between the clinical presentation of AL-CA and ATTR-CA patients. Both diseases, particularly AL-CA, are associated with poor life prognosis. (AU)

Light chain and transthyretin cardiac amyloidosis: Clinical characteristics, natural history and prognostic factors. / Amiloidosis cardíaca por cadenas ligeras y por transtirretina: características clínicas, historia natural y predictores pronósticos.

INTRODUCTION AND OBJECTIVES: Light-chain amyloidosis (AL-CA) and transthyretin amyloidosis (ATTR-CA) are the most common types of cardiac amyloidosis (CA). We sought to study the clinical characteristics and prognosis of both diseases. METHODS: We conducted a single-centre, retrospective review of all patients diagnosed with CA between 1998 and 2018. Clinical characteristics, complementary tests, survival and other adverse clinical events were studied. RESULTS: We identified 105 patients with CA, 65 ATTR-CA and 40 AL-CA. Mean age was 74.4 years; 24.8% were women. In both groups, heart failure was the most frequent clinical presentation (55.2%). The most prevalent electrocardiographic findings were the pseudoinfarct pattern (68.5%) and a Sokolow-Lyon index < 1.5 mV (67.7%), with no differences between the two subtypes of CA. One-year, 3-year, and 5-year survival was 43.3%, 40.4% and 35.4%, respectively, in AC-AL patients, and 85.1%, 57.3% and 31.4% in AC-ATTR patients (p = 0.004). AL-CA subtype (HR 3.41; 95% CI 1.45-8.06; p = 0.005), previous admission for heart failure (HR 4.25; 95% CI 1.63-11.09; p = 0.003) and a NYHA class III-IV (HR 2.76; 95% CI; 1.09-7.03; p = 0.033) were independent predictors of mortality, while beta-blocker therapy was associated with longer survival (HR 0.23; 95% CI 0.09-0.59; p = 0.002). CONCLUSIONS: Differences exist between the clinical presentation of AL-CA and ATTR-CA patients. Both diseases, particularly AL-CA, are associated with poor life prognosis.

Patient with double bence jones proteinuria after hematopoietic cell transplantation.

About two thirds of patients with multiple myeloma and M-component in serum also have light chains in urine. However, the simultaneous presence of 2 Bence Jones proteins of different immunologic types in the same patient is rare. We describe the case of a 58-year-old woman with multiple myeloma, having 2 monoclonal light chains of both types (kappa and lambda) and an immunoglobulin G-lambda monoclonal protein in urine. The quantitative determination of light chains in urine was carried out using nephelometry, and Bence Jones proteinuria was confirmed by agarose gel immunofixation. To the best of our knowledge, this is the first reported case of double Bence Jones proteinuria after hematopoietic cell transplantation.