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Devereux, R. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Heagerty, P. Waldo, S. Pro-B-type natriuretic peptide levels in acute decompensated heart failure. Colucci, W. Girnius, S. Palladini, G. A European collaborative study of cyclophosphamide, bortezomib, and dexamethasone in upfront treatment of systemic AL amyloidosis. Wechalekar, A. Tsao, C. J Am Heart Assoc. Aurigemma, G. Biolo, A.
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Gaasch, W. Left ventricular structural remodeling in health and disease: with special emphasis on volume, mass, and geometry. Pozo, E. Revisiting morphological features of cardiac amyloid with cardiac magnetic resonance. J Cardiovasc Magn Reson. Sabatine, M. Alonso-Martinez, J. C-reactive protein as a predictor of improvement and readmission in heart failure.
Eur J Heart Fail. Apridonidze, T. Clinical and echocardiographic correlates of elevated troponin in amyloid light-chain cardiac amyloidosis. Koyama, J. Longitudinal myocardial function assessed by tissue velocity, strain, and strain rate tissue Doppler echocardiography in patients with AL primary cardiac amyloidosis. Gertz, M. Immunoglobulin light chain amyloidosis: Update on diagnosis, prognosis, and treatment. Am J Hematol. Download references. To the members of the multidisciplinary clinical and research teams of the Amyloidosis Center.
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Download PDF. Subjects Cardiology Heart failure. Introduction Systemic amyloidosis AL is a uncommon disease characterized by the clonal proliferation of monoclonal immunoglobulin light chains resulting in extracellular fibril formation and amyloid deposits in various organs 1. Methods Patient data collection Data was collected over a year period.
Biomarker analysis Blood samples were collected at initial visit to the Amyloidosis Center. Full size table. All tests were two-tailed. During the 21 years of the study, patients with AL amyloidosis were seen at Mayo Clinic. Of the remaining patients, were seen at Mayo Clinic within 6 months of the initial diagnosis of AL amyloidosis, 93 between 6 months and 2 years, and 32 more than 2 years after initial diagnosis. Sixty-seven patients seen within 6 months are still alive and under observation Table 1.
Survival for patients with systemic amyloidosis seen at Mayo Clinic between January 1, and March 1, Thirty patients survived for 10 years or more after the histologic diagnosis of AL amyloidosis; 19 of these were first seen at Mayo Clinic within 6 months of diagnosis Table 1.
Comparison of these two groups showed little difference between them Table 2. All but 1 of the 30 patients had a monoclonal protein in the serum or urine, monoclonal plasma cells in the bone marrow, or immunohistochemical proof of monoclonal light-chain staining of the amyloid tissue. In the one exception, the diagnosis was made in , immunoelectrophoresis and bone marrow biopsy were not done, and the positive rectal biopsy specimen contained no additional tissue for immunohistochemical studies.
The ages of the survivors ranged from 27 to 68 years median, 54 years at diagnosis of AL. Fifty-three percent were male. Only 3 patients had a liver palpable more than 5 cm below the right costal margin. The spleen was not palpable in any survivor, and lymphadenopathy was noted in only 2 patients. At the first Mayo Clinic visit, the median hemoglobin value was Fourteen percent had an initial serum creatinine value of 2.
The serum albumin value was less than 3. Only 2 patients had a monoclonal protein spike more than 2. The size of the urine monoclonal spike ranged from 0. The hour urine protein content ranged from 0. Of the 6 patients without a monoclonal protein in the serum or urine at diagnosis, a bone marrow biopsy specimen contained a monoclonal population of plasma cells in 2, immunohistochemical stains of the amyloid tissue were positive for a monoclonal light chain in 1, a monoclonal protein developed in the serum and urine in 2 patients during the course of their illness, and no studies were done in 1 patient.
Overt congestive heart failure was present in 2 patients at the time of diagnosis. The first patient was a year-old white man who had had progressive dyspnea and paroxysmal nocturnal dyspnea for 1 year. He also had periorbital purpura during this time and had lost 10 pounds.
The liver was palpable 3 cm below the right costal margin, and the Tinel sign was positive. A rectal biopsy was positive for amyloid. An endomyocardial biopsy was performed 6 years later because the patient was doing so well. All four specimens showed moderate amyloid deposition that was pericellular and nodular. Acute leukemia subsequently developed, and the patient died Results of cytogenetic studies were normal on two occasions before the diagnosis of acute leukemia.
In the second patient, a year-old white man, exertional dyspnea and paroxysmal nocturnal dyspnea developed from congestive heart failure. Biopsies of the tongue, rectum, and pleura were positive for amyloid. The interventricular septal thickness was 13 mm. This therapy was discontinued at 20 months total melphalan dosage, mg. He subsequently required a pacemaker but is alive with compensated congestive heart failure 13 years after diagnosis.
Six patients had carpal tunnel syndrome at diagnosis, and only 2 had a sensorimotor peripheral neuropathy. Orthostatic hypotension was present in 4 patients before diagnosis. Four of five liver biopsies were positive for amyloid, and all four endomyocardial biopsies were positive for amyloid.
Subcutaneous fat aspiration was performed in only 3 patients, and all had positive results. All seven renal biopsies were positive. All 30 patients received alkylating-agent therapy. One patient with an IgM monoclonal protein received chlorambucil, and another patient was given cyclophosphamide.
The remaining 28 patients received melphalan and prednisone. The duration of treatment ranged from 5 to 84 months median, The total dose of melphalan ranged from to 4, mg median, 1, mg. The monoclonal light chain disappeared from the urine in 13 patients and from the serum in 5 patients. The monoclonal protein disappeared from the serum or urine in a total of 14 patients.
The serum albumin value increased 1. The liver in the patient with marked hepatomegaly 14 cm below the costal margin became nonpalpable with therapy. One patient had a ruptured spleen at diagnosis. Two of the 30 patients had an associated multiple myeloma that required chemotherapy.
In 1 patient, autopsy results showed that the amyloidosis had disappeared. This patient had presented with a nephrotic syndrome hour urine protein value of 6. At autopsy, there was no evidence of amyloid in any organ.
An acute nonlymphocytic leukemia developed in 3 patients, and 2 others had a myelodysplastic syndrome. Cytogenetic studies revealed a monosomy 7 in 3 of the 4 patients in whom studies were done. Of 18 deaths, the causes were cardiac in 9, infection in 3, renal insufficiency in 2 both patients voluntarily stopped dialysis , and 1 each from gastrointestinal bleeding, multiple myeloma and renal failure, ventricular fibrillation no evidence of amyloid at autopsy , and an unrelated ruptured subclavian artery.
Myelodysplasia or leukemia contributed to death in 3 patients. Twelve patients are still alive and under observation at 10 to One patient had renal transplantation and was doing well 7 years later serum creatinine value was 1.
Improper kidney function due to amyloidosis can also lead to swelling in the legs edema , the belly, and the arms. Gut In the digestive system, amyloid deposits can lead to nausea, diarrhea, constipation , loss of appetite, or feeling full after eating even small amounts of food.
Again, these symptoms are common to many other GI issues as well, so just because you experience them does not necessarily mean you have amyloidosis. Nervous system Numbness, tingling, and pain are all potential symptoms if amyloid deposits affect the nervous system.
Another nervous system symptom is loss of sensitivity to heat or cold, as well as dizziness and nausea. More symptoms Carpal tunnel syndrome and a swollen or enlarged tongue can turn up in some people with AL amyloidosis, as can unexplained bruising — especially around the eyes. Editorial Sources and Fact-Checking. AL Amyloidosis. Amyloidosis Foundation. National Organization for Rare Disorders. August 14, February 1, Clinical Endoscopy.
October 26, Bone Marrow Transplant. May 22, University College London. AL Primary Amyloidosis.
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