Clinical, radiologic, and pathologic features and outcomes of pulmonary transthyretin amyloidosis

Eggleston, R.; Hartman, Thomas E.; Walkoff, Lara; Yi, Eunhee S.; Ryu, Jay H.; Baqir, Misbah

doi:10.1016/j.rmed.2022.106761

Cited by 9 publications

(14 citation statements)

References 28 publications

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“…ATTRm). 11,12 Among which, DCLD seems even more uncommon and, to our knowledge, has never been described in ATTRm through cryobiopsy.…”

Section: Therapeutic Advances In Respiratory Diseasementioning

confidence: 86%

“…Similarly, Eggleston et al . 12 reported four cases of ATTRwt cystic lesions; these were single and small in all cases. In our case, radiological lesions were large and diffuse and were due to ATTRm, which to our knowledge, has never been described previously.…”

Section: Discussionmentioning

confidence: 96%

“… 10 Pulmonary involvement of amyloidosis has been rarely described in ATTR (ATTRw or ATTRm). 11 , 12 Among which, DCLD seems even more uncommon and, to our knowledge, has never been described in ATTRm through cryobiopsy.…”

Section: Introductionmentioning

confidence: 84%

“…In contrast, autopsy studies revealed alveolar–septal wall amyloid deposition in 58–100% of patients with ATTR amyloidosis. 10 – 12 …”

Section: Discussionmentioning

confidence: 99%

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Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

Gaultier

Puscas

Pastré

et al. 2023

Ther Adv Respir Dis

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We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature reporting such pulmonary lesions in ATTRm amyloidosis, and notably diagnosed through cryobiopsy. A 51-year-old man from Mali with a past medical history of bilateral carpal tunnel syndrome presented erectile dysfunction, asthenia and worsening dyspnoea over the past year. He presented signs of cardiac failure; histological and radiological investigations diagnosed cardiac amyloidosis. He was found homozygote for the V122I mutation in transthyretin. A diffuse cystic lung disease (DCLD) was noted on computed tomography (CT) scan. We performed a transbronchial pulmonary cryobiopsy that revealed histological transthyretin amyloid deposits. This case report illustrates the safety and usefulness of cryobiopsy in the setting of DCLD and extends ATTRm amyloidosis as a possible cause of DCLD.

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“…ATTRm). 11,12 Among which, DCLD seems even more uncommon and, to our knowledge, has never been described in ATTRm through cryobiopsy.…”

Section: Therapeutic Advances In Respiratory Diseasementioning

confidence: 86%

Section: Discussionmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 84%

“…In contrast, autopsy studies revealed alveolar–septal wall amyloid deposition in 58–100% of patients with ATTR amyloidosis. 10 – 12 …”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

Gaultier

Puscas

Pastré

et al. 2023

Ther Adv Respir Dis

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“…Biological staging systems applicable to both wild-type and variant ATTR-CA, as well as echocardiographic parameters, have been described as having prognostic value [4]. Besides such well-established risk models, several authors have brought to light the pertinence of functional evaluation, such as peak aerobic capacity (pVO 2 ) and pulmonary function test, in identifying CA patients with poor prognosis [5][6][7][8][9][10]. The cardiopulmonary exercise test (CPET) is the gold standard test to determine prognosis in chronic heart failure patients with reduced ejection fraction.…”

Section: Introductionmentioning

confidence: 99%

Risk Stratification in Transthyretin Cardiac Amyloidosis: The Added Value of Lung Spirometry

Banydeen

Eggleston

Deney

et al. 2023

JCM

Self Cite

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Transthyretin cardiac amyloidosis (ATTR-CA) is an increasingly recognized disease that often results in heart failure and death. Traditionally, biological staging systems are used to stratify disease severity. Reduced aerobic capacity has recently been described as useful in identifying higher risk of cardiovascular events and death. Assessment of lung volume via simple spirometry might also hold prognostic relevance. We aimed to assess the combined prognostic value of spirometry, cardiopulmonary exercise testing (CPET) and biomarker staging in ATTR-CA patients in a multi-parametric approach. We retrospectively reviewed patient records with pulmonary function and CPET testing. Patients were followed until study endpoint (MACE: composite of heart-failure-related hospitalization and all-cause death) or censure (1 April 2022). In total, 82 patients were enrolled. Median follow-up was 9 months with 31 (38%) MACE. Impaired peak VO2 and forced vital capacity (FVC) were independent predictors of MACE-free survival, with peak VO2 < 50% and FVC < 70% defining the highest risk group (HR 26, 95% CI: 5–142, mean survival: 15 months) compared to patients with the lowest risk (peak VO2 ≥ 50% and FVC ≥ 70%). Combined peak VO2, FVC and ATTR biomarker staging significantly improved MACE prediction by 35% compared to ATTR staging alone, with 67% patients reassigned a higher risk category (p < 0.01). In conclusion, combining functional and biological markers might synergistically improve risk stratification in ATTR-CA. Integrating simple, non-invasive and easily applicable CPET and spirometry in the routine management of ATTR-CA patients might prove useful for improved risk prediction, optimized monitoring and timely introduction of newer-generation therapies.

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A case of pulmonary transthyretin amyloidosis with concurrent mycobacterial tuberculosis infection

Siu,

Mond,

Shaw

et al. 2024

Respirology Case Reports

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Amyloidosis is a pathological deposition disease that causes a spectrum of organ dysfunction. Pulmonary involvement is generally associated with immunoglobulin light chain type (AL) amyloid. Transthyretin (ATTR) amyloid build up in the lung is thought to be a senile disease observed usually as a finding at autopsy. We describe a case of pulmonary ATTR amyloidosis with concurrent mycobacterial tuberculosis infection.

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Clinical, radiologic, and pathologic features and outcomes of pulmonary transthyretin amyloidosis

Cited by 9 publications

References 28 publications

Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

Risk Stratification in Transthyretin Cardiac Amyloidosis: The Added Value of Lung Spirometry

A case of pulmonary transthyretin amyloidosis with concurrent mycobacterial tuberculosis infection

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