Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country
Abstract Background Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income countries, with few data from Latin America. Due to the non-specific c...
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| Format: | Article |
| Language: | English |
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BMC
2022-12-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-022-02584-3 |
| _version_ | 1811302335189614592 |
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| author | Roberta Shcolnik Szor Fabio Fernandes Angelina Maria Martins Lino Leonardo Oliveira Mendonça Fernanda Salles Seguro Valkercyo Araujo Feitosa Jussara Bianchi Castelli Lecticia Barbosa Jorge Lucas Bassolli de Oliveira Alves Precil Diego Miranda de Menezes Neves Evandro de Oliveira Souza Livia Barreira Cavalcante Denise Malheiros Jorge Kalil Gracia Aparecida Martinez Vanderson Rocha |
| author_facet | Roberta Shcolnik Szor Fabio Fernandes Angelina Maria Martins Lino Leonardo Oliveira Mendonça Fernanda Salles Seguro Valkercyo Araujo Feitosa Jussara Bianchi Castelli Lecticia Barbosa Jorge Lucas Bassolli de Oliveira Alves Precil Diego Miranda de Menezes Neves Evandro de Oliveira Souza Livia Barreira Cavalcante Denise Malheiros Jorge Kalil Gracia Aparecida Martinez Vanderson Rocha |
| author_sort | Roberta Shcolnik Szor |
| collection | DOAJ |
| description | Abstract Background Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income countries, with few data from Latin America. Due to the non-specific clinical manifestations, diagnosing amyloidosis is often challenging and patients experience a long journey and delay in diagnosis. This study aimed to assess clinical and laboratory characteristics, the diagnostic journey, and outcomes of patients with biopsy-proven systemic amyloidosis diagnosed between 2009 and 2020 at a university referral center in a middle-income Latin American country. Patients´ medical records were retrospectively reviewed. Results One hundred and forty-three patients were included. The median age at diagnosis was 60 years and 54% were male. Until the diagnosis, most of the patients (52%) were seen by at least 3 specialists, the main ones being: general practitioners (57%), nephrologists (45%), and cardiologists (38%). The most common manifestations were renal (54%) and cardiac (41%) disorders, and cachexia was seen in 36% of patients. In 72% of the cases, ≥ 2 biopsies were required until the final diagnosis. The median time from symptoms onset to diagnosis was 10.9 months, and most patients (75%) had ≥ 2 organs involved. The following subtypes were identified: AL (68%), ATTR (13%), AA (8%), AFib (4%), and inconclusive (7%). Median OS was 74.3 months in the non-AL subgroup and 18.5 months in AL. Among AL patients, those with advanced cardiac stage had the worst outcome [median OS 8.6 months versus 52.3 for stage III versus I–II, respectively (p < 0.001)]. AL subtype, cardiac involvement, and ECOG ≥ 2 were identified as independent risk factors for reduced survival. Conclusions Systemic amyloidosis is still an underdiagnosed condition and the delay in its recognition leads to poor outcomes. Medical education, better diagnostic tools, improvement in access to therapies, and establishment of referral centers may improve patient outcomes in middle-income countries. |
| first_indexed | 2024-04-13T07:26:11Z |
| format | Article |
| id | doaj.art-d9bf7a9a77554f519939dd8e78df9f98 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-04-13T07:26:11Z |
| publishDate | 2022-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-d9bf7a9a77554f519939dd8e78df9f982022-12-22T02:56:28ZengBMCOrphanet Journal of Rare Diseases1750-11722022-12-0117111010.1186/s13023-022-02584-3Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income countryRoberta Shcolnik Szor0Fabio Fernandes1Angelina Maria Martins Lino2Leonardo Oliveira Mendonça3Fernanda Salles Seguro4Valkercyo Araujo Feitosa5Jussara Bianchi Castelli6Lecticia Barbosa Jorge7Lucas Bassolli de Oliveira Alves8Precil Diego Miranda de Menezes Neves9Evandro de Oliveira Souza10Livia Barreira Cavalcante11Denise Malheiros12Jorge Kalil13Gracia Aparecida Martinez14Vanderson Rocha15Serviço de Hematologia, Hemoterapia e Terapia Celular, Hospital das Clínicas and Instituto do Câncer do Estado de São Paulo, Universidade de São PauloInstituto do Coração (InCor), Universidade de São PauloDivisão de Neurologia, Hospital das Clínicas, Universidade de São PauloDepartamento de Imunologia Clínica e Alergia, Hospital das Clínicas, Universidade de São PauloServiço de Hematologia, Hemoterapia e Terapia Celular, Hospital das Clínicas and Instituto do Câncer do Estado de São Paulo, Universidade de São PauloDivisão de Nefrologia, Hospital das Clínicas, Universidade de São PauloLaboratório de Patologia, Instituto do Coração (InCor), Universidade de São PauloDivisão de Nefrologia, Hospital das Clínicas, Universidade de São PauloServiço de Hematologia, Hemoterapia e Terapia Celular, Hospital das Clínicas and Instituto do Câncer do Estado de São Paulo, Universidade de São PauloDivisão de Nefrologia, Hospital das Clínicas, Universidade de São PauloDivisão de Gastroenterologia e Hepatologia Clínica, Hospital das Clínicas, Universidade de São PauloDivisão de Anatomia Patológica, Hospital das Clínicas, Universidade de São PauloDivisão de Anatomia Patológica, Hospital das Clínicas, Universidade de São PauloDepartamento de Imunologia Clínica e Alergia, Hospital das Clínicas, Universidade de São PauloServiço de Hematologia, Hemoterapia e Terapia Celular, Hospital das Clínicas and Instituto do Câncer do Estado de São Paulo, Universidade de São PauloServiço de Hematologia, Hemoterapia e Terapia Celular, Hospital das Clínicas and Instituto do Câncer do Estado de São Paulo, Universidade de São PauloAbstract Background Systemic amyloidosis is caused by the deposition of misfolded protein aggregates in tissues, leading to progressive organ dysfunction and death. Epidemiological studies originate predominantly from high-income countries, with few data from Latin America. Due to the non-specific clinical manifestations, diagnosing amyloidosis is often challenging and patients experience a long journey and delay in diagnosis. This study aimed to assess clinical and laboratory characteristics, the diagnostic journey, and outcomes of patients with biopsy-proven systemic amyloidosis diagnosed between 2009 and 2020 at a university referral center in a middle-income Latin American country. Patients´ medical records were retrospectively reviewed. Results One hundred and forty-three patients were included. The median age at diagnosis was 60 years and 54% were male. Until the diagnosis, most of the patients (52%) were seen by at least 3 specialists, the main ones being: general practitioners (57%), nephrologists (45%), and cardiologists (38%). The most common manifestations were renal (54%) and cardiac (41%) disorders, and cachexia was seen in 36% of patients. In 72% of the cases, ≥ 2 biopsies were required until the final diagnosis. The median time from symptoms onset to diagnosis was 10.9 months, and most patients (75%) had ≥ 2 organs involved. The following subtypes were identified: AL (68%), ATTR (13%), AA (8%), AFib (4%), and inconclusive (7%). Median OS was 74.3 months in the non-AL subgroup and 18.5 months in AL. Among AL patients, those with advanced cardiac stage had the worst outcome [median OS 8.6 months versus 52.3 for stage III versus I–II, respectively (p < 0.001)]. AL subtype, cardiac involvement, and ECOG ≥ 2 were identified as independent risk factors for reduced survival. Conclusions Systemic amyloidosis is still an underdiagnosed condition and the delay in its recognition leads to poor outcomes. Medical education, better diagnostic tools, improvement in access to therapies, and establishment of referral centers may improve patient outcomes in middle-income countries.https://doi.org/10.1186/s13023-022-02584-3AmyloidosisSystemic amyloidosisAL amyloidosisATTR amyloidosisAA amyloidosis |
| spellingShingle | Roberta Shcolnik Szor Fabio Fernandes Angelina Maria Martins Lino Leonardo Oliveira Mendonça Fernanda Salles Seguro Valkercyo Araujo Feitosa Jussara Bianchi Castelli Lecticia Barbosa Jorge Lucas Bassolli de Oliveira Alves Precil Diego Miranda de Menezes Neves Evandro de Oliveira Souza Livia Barreira Cavalcante Denise Malheiros Jorge Kalil Gracia Aparecida Martinez Vanderson Rocha Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country Orphanet Journal of Rare Diseases Amyloidosis Systemic amyloidosis AL amyloidosis ATTR amyloidosis AA amyloidosis |
| title | Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country |
| title_full | Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country |
| title_fullStr | Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country |
| title_full_unstemmed | Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country |
| title_short | Systemic amyloidosis journey from diagnosis to outcomes: a twelve-year real-world experience of a single center in a middle-income country |
| title_sort | systemic amyloidosis journey from diagnosis to outcomes a twelve year real world experience of a single center in a middle income country |
| topic | Amyloidosis Systemic amyloidosis AL amyloidosis ATTR amyloidosis AA amyloidosis |
| url | https://doi.org/10.1186/s13023-022-02584-3 |
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