Diagnosis and treatment of multiple myeloma and AL amyloidosis with focus on improvement of renal lesion

Our case demonstrates severe bone disease in primary AL-amyloidosis without concomitant multiple myeloma. A 30-year-old man had spontaneous vertebral fracture Th8. A computed tomography scan suggested multiple foci of lesions in all the bones. In bone marrow and resected rib werent detected any tumor cells. After 15 years from the beginning of the disease, nephrotic syndrome developed. Based on the kidney biopsy, AL-amyloidosis was confirmed. Amyloid was also detected in the bowel and bone marrow. On the indirect signs (thickening of the interventricular septum 16 mm and increased NT-proBNP 2200 pg/ml), a cardial involvement was confirmed. In the bone marrow (from three sites) was found 2.85% clonal plasma cells with immunophenotype СD138+, СD38dim, СD19-, СD117+, СD81-, СD27-, СD56-. FISH method revealed polysomy 5,9,15 in 3% of the nuclei. Serum free light chain Kappa 575 mg/l (/44.9) was detected. Multiple foci of destruction with increased metabolic activity (SUVmax 3.6) were visualized on PET-CT, and an surgical intervention biopsy was performed from two foci. The number of plasma cells from the destruction foci was 2.5%, and massive amyloid deposition was detected. On CT scan foci of lesions differed from bone lesions at multiple myeloma. Bone fragments of point and linear type (button sequestration) were visualized in most of the destruction foci. The content of the lesion was low density. There was no extraossal spread from large zones of destruction. There was also spontaneous scarring of the some lesions (without therapy). Thus, the diagnosis of multiple myeloma was excluded on the basis based on x-ray signs, of the duration of osteodestructive syndrome (15 years), the absence of plasma infiltration in the bone marrow, including from foci of bone destruction by open biopsy. This observation proves the possibility of damage to the skeleton due to amyloid deposition and justifies the need to include AL-amyloidosis in the spectrum of differential diagnosis of diseases that occur with osteodestructive syndrome.

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Gastric amyloidosis presenting as acute upper gastrointestinal bleeding: a case report

BMC Gastroenterology ◽

10.1186/s12876-021-01882-7 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Rachael Chan ◽

Stephanie Carpentier

Keyword(s):

Multiple Myeloma ◽

Clinical Symptoms ◽

Clinical Manifestations ◽

Left Gastric Artery ◽

Bleeding Complications ◽

Al Amyloidosis ◽

Gi Bleeding ◽

Reduced Ejection Fraction ◽

Repeat Endoscopy ◽

Tertiary Center

Abstract Background Amyloidosis is characterized by extracellular tissue deposition of fibrils, composed of insoluble low-molecular-weight protein subunits. The type, location, and extent of fibril deposition generates variable clinical manifestations. Gastrointestinal (GI) bleeding due to amyloid deposition is infrequent. Previous literature describes upper GI bleeding (UGIB) in patients with known amyloid disease. Here, we describe a case of recurrent UGIB that ultimately led to a diagnosis of GI amyloidosis and multiple myeloma in a patient with no history of either. Case presentation A 76-year-old male presented to the emergency department with frank hematemesis, melena, and a decreased level of consciousness. Management required intensive care unit (ICU) admission with transfusion, intubation, and hemodynamic support. Upper endoscopy revealed gastritis with erosions and nodularity in the gastric cardia and antrum. Hemostasis of a suspected bleeding fundic varix could not be achieved. Subsequently, the patient underwent computerized tomography (CT) angiography and an interventional radiologist completed embolization of the left gastric artery to address potentially life-threatening bleeding. Complications included development of bilateral pleural effusions and subsegmental pulmonary emboli. Pleural fluid was negative for malignancy. He was transferred to a peripheral hospital for continued care and rehabilitation. Unfortunately, he began re-bleeding and was transferred back to our tertiary center, requiring re-admission to the ICU and repeat endoscopy. Repeat biopsy of the gastric cardial nodularity was reported as active chronic gastritis and ulceration. However, based on the unusual endoscopic appearance, clinical suspicion for malignancy remained high. He exhibited symptoms of congestive heart failure following standard resuscitation. Transthoracic echocardiogram (TTE) demonstrated a reduced ejection fraction of 35–40% and a strain pattern with apical sparing. Following discussions between the treating gastroenterologist, consulting cardiologist, and pathologist, Congo Red staining was performed, revealing submucosal amyloid deposits. Hematology was consulted and investigations led to diagnosis of multiple myeloma (MM) and immunoglobulin light-chain (AL) amyloidosis. The patient was treated for MM for four months prior to cessation of therapy due to functional and cognitive decline. Conclusions GI amyloidosis can present with various non-specific clinical symptoms and endoscopic findings, rendering diagnosis a challenge. This case illustrates GI amyloidosis as a potential—albeit rare—etiology of UGIB.

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Diagnosis and treatment of multiple myeloma in Germany: analysis of a nationwide multi-institutional survey

Annals of Hematology ◽

10.1007/s00277-017-2991-0 ◽

2017 ◽

Vol 96 (6) ◽

pp. 987-993 ◽

Cited By ~ 8

Author(s):

Maximilian Merz ◽

Lenka Kellermann ◽

Wolfram Poenisch ◽

Hans-Joachim Tischler ◽

Joern Kohnke ◽

...

Keyword(s):

Multiple Myeloma ◽

Diagnosis And Treatment

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Diagnosis and Treatment of Bone Disease in Multiple Myeloma: Spotlight on Spinal Involvement

Scientifica ◽

10.1155/2013/104546 ◽

2013 ◽

Vol 2013 ◽

pp. 1-12 ◽

Cited By ~ 14

Author(s):

Patrizia Tosi

Keyword(s):

Spinal Cord ◽

Multiple Myeloma ◽

Bone Marrow ◽

Bone Resorption ◽

Spinal Cord Compression ◽

Bone Disease ◽

Cord Compression ◽

Diagnosis And Treatment ◽

Conventional Chemotherapy ◽

Spinal Involvement

Bone disease is observed in almost 80% of newly diagnosed symptomatic multiple myeloma patients, and spine is the bone site that is more frequently affected by myeloma-induced osteoporosis, osteolyses, or compression fractures. In almost 20% of the cases, spinal cord compression may occur; diagnosis and treatment must be carried out rapidly in order to avoid a permanent sensitive or motor defect. Although whole body skeletal X-ray is considered mandatory for multiple myeloma staging, magnetic resonance imaging is presently considered the most appropriate diagnostic technique for the evaluation of vertebral alterations, as it allows to detect not only the exact morphology of the lesions, but also the pattern of bone marrow infiltration by the disease. Multiple treatment modalities can be used to manage multiple myeloma-related vertebral lesions. Surgery or radiotherapy is mainly employed in case of spinal cord compression, impending fractures, or intractable pain. Percutaneous vertebroplasty or balloon kyphoplasty can reduce local pain in a significant fraction of treated patients, without interfering with subsequent therapeutic programs. Systemic antimyeloma therapy with conventional chemotherapy or, more appropriately, with combinations of conventional chemotherapy and compounds acting on both neoplastic plasma cells and bone marrow microenvironment must be soon initiated in order to reduce bone resorption and, possibly, promote bone formation. Bisphosphonates should also be used in combination with antimyeloma therapy as they reduce bone resorption and prolong patients survival. A multidisciplinary approach is thus needed in order to properly manage spinal involvement in multiple myeloma.

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Short and long-term outcome of treatment with high-dose melphalan and stem cell transplantation for multiple myeloma-associated AL amyloidosis

Annals of Hematology ◽

10.1007/s00277-009-0874-8 ◽

2009 ◽

Vol 89 (6) ◽

pp. 579-584 ◽

Cited By ~ 12

Author(s):

Saulius Girnius ◽

David C. Seldin ◽

Martha Skinner ◽

Kathleen T. Finn ◽

Karen Quillen ◽

...

Keyword(s):

Multiple Myeloma ◽

Stem Cell ◽

Stem Cell Transplantation ◽

High Dose ◽

Al Amyloidosis ◽

Term Outcome ◽

Long Term Outcome ◽

Short And Long Term ◽

High Dose Melphalan

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Light chain multiple myeloma with cutaneous AL amyloidosis

JDDG Journal der Deutschen Dermatologischen Gesellschaft ◽

10.1111/j.1610-0387.2008.06617.x ◽

2008 ◽

Vol 6 (9) ◽

pp. 744-745 ◽

Cited By ~ 3

Author(s):

Maria Rita Becker ◽

Rainer Rompel ◽

Jörg Plum ◽

Timo Gaiser

Keyword(s):

Multiple Myeloma ◽

Light Chain ◽

Al Amyloidosis

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Proteasome Inhibitors in the Treatment of Multiple Myeloma and AL Amyloidosis

Resistance to Targeted Anti-Cancer Therapeutics - Resistance to Proteasome Inhibitors in Cancer ◽

10.1007/978-3-319-06752-0_4 ◽

2014 ◽

pp. 99-115

Author(s):

Jeffrey A. Zonder

Keyword(s):

Multiple Myeloma ◽

Proteasome Inhibitors ◽

Al Amyloidosis

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Diagnostic approach to light-chain cardiac amyloidosis and its differential diagnosis

Acta Haematologica Polonica ◽

10.2478/ahp-2018-0002 ◽

2018 ◽

Vol 49 (1) ◽

pp. 9-14

Author(s):

Monika Adamska ◽

Anna Komosa ◽

Tatiana Mularek ◽

Joanna Rupa-Matysek ◽

Lidia Gil

Keyword(s):

Differential Diagnosis ◽

Light Chain ◽

Cardiac Amyloidosis ◽

Cardiac Involvement ◽

Diagnosis And Treatment ◽

Diagnostic Approach ◽

Al Amyloidosis ◽

Delay In Diagnosis ◽

Light Chain Amyloidosis ◽

Novel Approaches

AbstractCardiac amyloidosis is a rare and often-misdiagnosed disorder. Among other forms of deposits affecting the heart, immunoglobulin-derived light-chain amyloidosis (AL amyloidosis) is the most serious form of the disease. Delay in diagnosis and treatment may have a major impact on the prognosis and outcomes of patients. This review focuses on the presentation of the disorder and current novel approaches to the diagnosis of cardiac involvement in AL amyloidosis.

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Pericarditis in contemporary therapeutic clinic: nosological spectrum, approaches to diagnosis and treatment

Terapevticheskii arkhiv ◽

10.26442/00403660.2020.12.200432 ◽

2020 ◽

Vol 92 (12) ◽

pp. 10-18

Author(s):

O. V. Blagova ◽

A. V. Nedostup ◽

V. P. Sedov ◽

E. A. Kogan ◽

I. N. Alijeva ◽

...

Keyword(s):

Lupus Erythematosus ◽

Combined Treatment ◽

Subcutaneous Fat ◽

Lymph Node Biopsy ◽

Diagnosis And Treatment ◽

Al Amyloidosis ◽

Leading Role ◽

Line Of Therapy ◽

Special Examination ◽

Thoracoscopic Biopsy

Aim.To analyze the register of pericarditis in a therapeutic clinic, to evaluate their nosological spectrum, to optimize approaches to diagnosis and treatment. Materials and methods.For the period 20072018, the register includes 76 patients with the diagnosis of pericarditis (average age 53.115.7 years, 2085 years, 46 female). Patients with hydropericardium were not included in the register. Diagnostic puncture of pericardium was carried out in 5 patients, pleural puncture in 11 patients. Morphological diagnostics included endomyocardial/ intraoperative biopsy of myocardium (n=4/2), thoracoscopic/intraoperative biopsy of pericardium (n=1/6), pleural puncture (n=5), transbronchial (n=1), thoracoscopic biopsy of intrathoracic lymph nodes (n=2), lung (n=1), supraclavicular lymph node biopsy (n=1), salivary gland (n=1), subcutaneous fat and rectum biopsy per amyloid (n=6/1). The genome of cardiotropic viruses, level of anti-heart antibodies, C-reactive protein, antinuclear factor, rheumatoid factor (antibodies to cyclic citrullinized peptide), antibodies to neutrophil cytoplasm were determined, extractable nuclear antigens (ENA), protein immunoelectrophoresis, diaskin test, computed tomography of lungs and heart, cardiac magnetic resonance imaging, oncologic search. Results.The following forms of pericarditis were verified: tuberculosis (14%, including in combination with hypertrophic cardiomyopathy HCM), acute / chronic viral (8%) and infectious immune (38%), including perimyocarditis in 77%, pericarditis associated with mediastinum lymphoma/sarcoma (4%), sarcoidosis (3%), diffuse diseases of connective tissue and vasculitis (systemic lupus erythematosus, rheumatoid arthritis, diseases of Horton, Takayasu, Shegren, Wegener, 12%), leukoclastic vasculitis, Loefflers endomyocarditis, AL-amyloidosis, thrombotic microangiopathy (1% each), HCM (8%), coronary heart disease (constriction after repeated punctures and suppuration; postinfection and immune, 4%), after radiofrequency catheter ablation and valve prosthetics (2%). Tuberculosis was the main causes of constrictive pericarditis (36%). Treatment included steroids (n=39), also in combination with cytostatics (n=12), anti-tuberculosis drugs (n=9), acyclovir/ganclovir (n=14), hydroxychloroquine (n=23), colchicine (n=13), non-steroidal anti-inflammatory drugs (n=21), L-tyroxine (n=5), chemotherapy (n=1). In 36 patients different types of therapy were combined. Treatment results observed in 55 patients. Excellent and stable results were achieved in 82% of them. Pericardiectomy/pericardial resection was successfully performed in 8 patients. Lethality was 13.2% (10 patients) with an average follow-up 9 [2; 29.5] months (up to 10 years). Causes of death were chronic heart failure, surgery for HCM, pulmonary embolism, tumor. Conclusion.During a special examination, the nature of pericarditis was established in 97% of patients. Morphological and cytological diagnostics methods play the leading role. Tuberculosis pericarditis, infectious-immune and pericarditis in systemic diseases prevailed. Infectious immune pericarditis is characterized by small and medium exudate without restriction and accompanying myocarditis. Steroids remain the first line of therapy in most cases. Hydroxychloroquine as well as colchicine can be successfully used in moderate / low activity of immune pericarditis and as a long-term maintenance therapy after steroid stop.

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