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Primary Amyloidosis

AL Amyloidosis


Presentation

  • We present a review of the literature and suggestions for management of this rare bladder disease.[ncbi.nlm.nih.gov]
  • Here, we present a case of Primary Amyloidosis presenting as Pure Autonomic Failure (Dysautonomia).[ncbi.nlm.nih.gov]
  • Occasionally, it can present as angina, due to infiltration of amyloid into the walls of small vessels.[ncbi.nlm.nih.gov]
  • The site of deposition can differ between patients, and therefore, clinical presentation can vary. Here, we present a case of previously undiagnosed amyloidosis presenting with sudden death.[ncbi.nlm.nih.gov]
  • Amyloid can be present in urine and should not be overlooked or confused with tumor diathesis when a malignant tumor is suspected clinically.[ncbi.nlm.nih.gov]
Cervical Lymphadenopathy
  • This case represents the second report in the literature of a neck mass resulting from a plasma cell dyscrasia and the first report of AL disease producing such extensive cervical lymphadenopathy as to cause significant respiratory compromise.[ncbi.nlm.nih.gov]
Fatigue
  • A 71-year-old man was admitted to our hospital because of exertional dyspnea, fatigue and fever. A chest X-ray showed right-sided moderate pleural effusion. A thoracocentesis revealed an exudative pleural effusion.[ncbi.nlm.nih.gov]
  • Neurotoxicity, fatigue, peripheral edema, constipation and exacerbation of postural hypotension were manageable although necessitated dose adjustment or treatment discontinuation in 11 patients.[ncbi.nlm.nih.gov]
  • You will become lethargic and fatigued. You will lose your appetite. The medications are (and there are lots of them) essential to your recovery. The caregiver must ensure that you get the proper allotment of medications 3 times per day.[web.archive.org]
  • Amyloid deposits in these organs can cause shortness of breath, fatigue, edema (swelling of ankles and legs), dizziness upon standing, a feeling of fullness in the stomach (especially after eating), diarrhea, weight loss, enlarged tongue, and numbness[medicinenet.com]
  • Non-hematologic toxicities were mainly neurotoxicity, fatigue, peripheral edema, constipation and exacerbation of postural hypotension.[doi.org]
Ascitic Fluid
  • Reinfusion of ascitic fluid into the hemodialysis circuit had been performed from March 1999 for refractory ascites, and ascites disappeared in July 1999. Furthermore, urinary output increased after 14 courses of chemotherapy.[ncbi.nlm.nih.gov]
Intravenous Administration
  • administration of high dose melphalan (HDM) supported by autologous stem cell transplantation (ASCT) significantly increased the hematologic and organ responses and improved survival, but at the expense of a treatment-related mortality rate ranging between[doi.org]
High Fever
  • We describe here an extremely rare case of primary amyloidosis which presented moderate pleural effusion and high fever. A 71-year-old man was admitted to our hospital because of exertional dyspnea, fatigue and fever.[ncbi.nlm.nih.gov]
Easy Bruising
  • When the skin is involved, easy bruising is common, which can sometimes occur around the eyes. The tongue sometimes enlarges (macroglossia).[msdmanuals.com]
  • bruising Amyloidosis can be determined from any of the problems listed above.[unckidneycenter.org]
  • bruising or bleeding Pancreas - Diabetes Musculoskeletal system - Joint pain or swelling, weakness Skin - Lumps or purple discoloration No one knows what causes amyloidosis.[drugs.com]
  • bruising, and purplish patches around the eyes An irregular heartbeat Difficulty swallowing When to see a doctor See your doctor if you persistently experience any of the signs or symptoms associated with amyloidosis.[mayoclinic.org]
  • Amyloid in the skin can cause easy bruising. Amyloid in the heart muscle causes it to become unusually stiff, leading to fatigue, shortness of breath and fluid retention.[ucl.ac.uk]
Abdominal Pain
  • A 65-year-old male patient presented with right upper-quadrant abdominal pain. Ultrasonography revealed hypoechoic lesion in the perihepatic and intraparenchymal area. Computed tomography (CT) showed hypodense lesion in the same localization.[ncbi.nlm.nih.gov]
  • She came to the gastroenterology clinics complaining of hematochezia, weight loss, decreased appetite and abdominal pain. Her only sign of organ damage was mild to moderate proteinuria (80mg per day).[ncbi.nlm.nih.gov]
  • A 72-year-old male previously diagnosed with Waldenström's macroglobulinemia and multiple other malignancies was admitted for abdominal pain.[ncbi.nlm.nih.gov]
  • We present the case of a 40-year-old female who presented with abdominal pain. Ultrasound abdomen was reported as massive hepatomegaly with diffuse liver parenchymal disease.[jcdr.net]
  • We describe a case of a patient presenting with abdominal pain, nausea, vomiting, and weight loss later to be diagnosed with localized GI amyloidosis from underlying multiple myeloma.[pagepress.org]
Regurgitation
  • Dong Woog Yoon, Byung-Jo Park, In Sook Kim and Dong Seop Jeong, Isolated Tricuspid Regurgitation: Initial Manifestation of Cardiac Amyloidosis, The Korean Journal of Thoracic and Cardiovascular Surgery, 10.5090/kjtcs.2015.48.6.422, 48, 6, (422-425), ([doi.org]
  • Involvement of the cardiac valves may result in tricuspid regurgitation, which can further aggravate the right heart failure.[circ.ahajournals.org]
Left Ventricular Dysfunction
  • NT-ProBNP is released from myocardial cells in response to increased wall stress, and levels increase with both asymptomatic and symptomatic left ventricular dysfunction, making it a useful tool in the diagnosis of cardiac failure and a strong prognostic[doi.org]
  • New techniques, such as diastolic color Doppler myocardial velocity imaging and strain rate imaging, should improve early detection of left ventricular dysfunction in patients with AL amyloid heart disease [ 43 ].[ojrd.biomedcentral.com]
Jaw Claudication
  • Abstract We describe two patients with temporal artery biopsy-proven amyloidosis presenting with symptoms of jaw claudication, visual disturbance, and proximal muscle stiffness suggestive of giant cell arteritis (GCA) and polymyalgia rheumatica.[ncbi.nlm.nih.gov]
Oral Ulcers
  • Thornhill, Amyloidosis: an unusual case of persistent oral ulceration, Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology, 108, 5, (e46), (2009).[doi.org]
Swelling of Hand
  • As a result, symptoms and signs are vague and can include fatigue, shortness of breath, weight loss, lack of appetite, numbness, tingling, carpal tunnel syndrome, weakness, hearing loss, enlarged tongue, bruising, and swelling of hands and feet.[medicinenet.com]
  • As a result, symptoms and signs are vague and can include fatigue , shortness of breath , weight loss , lack of appetite , numbness, tingling, carpal tunnel syndrome , weakness , hearing loss , enlarged tongue, bruising , and swelling of hands and feet[medicinenet.com]
Arthralgia
  • […] complement activation. 84, 85 In Schnitzler syndrome there is deposition of para-protein (IgM-κ is most common) at the dermoepidermal junction and in capillary walls which probably contributes to development of chronic urticaria, intermittent fever, arthralgia[doi.org]
  • This is usually associated with AL amyloidosis, but AA amyloidosis has also been reported. 39 Hepato/splenomegaly in patients with Schnitzler syndrome (IgM monoclonal gammopathy, urticarial rash, arthralgia, bone pain, lymphadenopathy) should alert one[bloodjournal.org]
Nocturia
  • In addition, he had intense nocturia, 10-12 times per night, and occasional urgency. Physical examination of the abdomen and genitals was unremarkable. Urine sediment and blood tests were normal.[ncbi.nlm.nih.gov]
Peripheral Neuropathy
  • Peripheral neuropathy in primary (AL) amyloidosis is usually lower-limb predominant, length-dependent, symmetrical, and affects small (pain and autonomic) fibers, as much or more than large fibers.[ncbi.nlm.nih.gov]
  • Deposition in viscera results in restrictive cardiomyopathy, nephrotic range proteinuria, demyelinating peripheral neuropathy, hepatomegaly and malabsorption syndrome. Diagnosis requires biopsy with Congo red staining.[ncbi.nlm.nih.gov]
  • AL amyloidosis can affect many organs, resulting in the following signs and symptoms: Symptoms indicating the arms are affected include: Carpal tunnel syndrome Numbness, buring and/or tingling (peripheral neuropathy) Weak fingernails Symptoms indicating[my.clevelandclinic.org]
  • One was African-American, one had peripheral neuropathy, and the third was referred for evaluation of hereditary amyloidosis and was diagnosed with Durie-Salmon stage I multiple myeloma.[doi.org]
  • Nervous system: In patients with peripheral neuropathy, gabapentin, pregabalin, or duloxetine may relieve pain.[merckmanuals.com]
Responsiveness Decreasing
  • It has been postulated that amyloidogenic light chains may have a direct toxic effect on myocardial cells. 43, 44 This is in concordance with the observation that NT-proBNP levels in patients achieving a hematologic response decrease along with clinical[doi.org]
Mononeuropathy
  • Recognition that light chain amyloidosis may be the cause of a multiple mononeuropathy pattern adds to the differential diagnosis of this clinical phenotype.[ncbi.nlm.nih.gov]

Workup

  • He was then referred to the department of Clinical Haematology for further workup. Bone marrow aspiration and biopsy are performed. The aspirate reveals 12% plasma cells and the biopsy reveals amyloidosis.[omicsonline.org]
  • […] myeloma-associated amyloidosis were positive for amyloid in 47% of cases (16/34) in one study6 and 100% of cases (16/16) in another study.7 Although positive biopsy results that are characteristic of different types of amyloidosis can be seen, a systemic workup[mdedge.com]
  • Although various strategies have been proposed for evaluation, there are still cases with undetermined origins even after extensive workup.[bmcgastroenterol.biomedcentral.com]
  • Diagostic workup for infertility revealed pelvic endometriosis and tubal adhesions. The patient was treated accordingly. The patient has been followed up for a year. There has been no recurrence of the bladder lesions or haematuria.[indianjurol.com]
Erythrocytosis
  • Xianrui Zhang and Meiyun Fang, TEMPI Syndrome: Erythrocytosis in Plasma Cell Dyscrasia, Clinical Lymphoma Myeloma and Leukemia, 10.1016/j.clml.2018.07.284, 18, 11, (724-730), (2018). M Hasib Sidiqi, Mohammed A. Aljama, Eli Muchtar, Francis K.[doi.org]
ST Elevation
  • Katsura Soma, Masataka Takizawa, Hiroki Uozumi, Naoshi Kobayakawa, Tamiko Takemura, Junichi Shiraishi and Teruhiko Aoyagi, A Case of ST-Elevated Myocardial Infarction Resulting From Obstructive Intramural Coronary Amyloidosis, International Heart Journal[doi.org]

Treatment

  • , after two cycles of treatment.[doi.org]
  • There are likely other primary treatment options that we will try to include in the future. However, at present the treatment of AL Amyloidosis is limited. The main approach to treatment is two fold.[web.archive.org]
  • This treatment may be a valid option for patients with severe heart or kidney impairment.[ncbi.nlm.nih.gov]
  • At diagnosis of AL amyloidosis, treatment was changed or started in 22 patients, whereas the same treatment was continued in 21 patients, and no treatment data were available for the rest.[ncbi.nlm.nih.gov]
  • Treatment Algorithm A summary of my recommendations for the treatment of AL amyloidosis is outlined in Figure 1. Figure 1. Treatment algorithm for light-chain (AL) amyloidosis.[doi.org]

Prognosis

  • Localized primary amyloidosis of the breast has a good prognosis. However, secondary amyloidosis is a systemic disease and has a poor prognosis. We report the case of a 77-year-old female with primary amyloidosis of the breast.[ncbi.nlm.nih.gov]
  • Patients with primary amyloidosis (AL) have poor prognosis with a median survival of one to two years. In patients with symptomatic cardiac involvement, prognosis is even worse with the reported median survival of 6 months.[ncbi.nlm.nih.gov]
  • The prognosis is poor with a median survival of 13 months in untreated patients.[ncbi.nlm.nih.gov]
  • Abstract Cardiac amyloidosis is an infiltrative cardiomyopathy with a grave prognosis. Its clinical manifestations include restrictive cardiomyopathy, diastolic heart failure, conduction defects, and arrhythmias.[ncbi.nlm.nih.gov]
  • Even considering the multi systemic nature of amyloidosis, we can accept that in peculiar patients justified the heart transplantation, taking in the consideration the very bad prognosis of the disease.[ncbi.nlm.nih.gov]

Etiology

  • We report a case of primary amyloidosis in an adult male presenting with intrahepatic cholestasis where viral, drug, alcohol, and autoimmune etiologies were all excluded and the definite diagnosis was established by liver biopsy with Congo red staining[ncbi.nlm.nih.gov]
  • To determine the etiology of the effusion and fever, bronchoscopy was performed. Biopsies of the tracheal wall showed amyloid deposition.[ncbi.nlm.nih.gov]
  • Viral, drug, alcohol, and autoimmune etiologies were all excluded. A liver biopsy was performed because of unexplained cholestatic jaundice for 3 months.[ncbi.nlm.nih.gov]
  • Cutis . 2007 September;80(3):193-200 Amyloidosis is a broad and complex class of diseases that comprises several etiologies, many manifestations, and a diversity of outcomes.[mdedge.com]
  • Amyloidosis of the bladder primarily affects posterior and posterior lateral walls with unknown etiology. It is mainly AL type Ig light chain.[cancerjournal.net]

Epidemiology

  • EPIDEMIOLOGY: AL amyloidosis is the most common type of systemic amyloidois in developed countries with an estimated incidence of 9 cases/million inhabitant/year.[ncbi.nlm.nih.gov]
  • Amyloidosis epidemiology will be boosted when the new amyloid fibril based disease nomenclature will be taken to clinical use and supported by diagnostic know-how [ 1 ].[doi.org]
  • Epidemiology of the plasma-cell disorders.[ncbi.nlm.nih.gov]
  • Medicine 1975; 54:271–99Kyle, RA Bard, ED Matoba R, Shikata I, Iwai K, Onishi S, Fujitani N, Yoshida K, Kouno A: An epidemiologic and histopathological study of sudden cardiac death in Osaka Medical Examiner’s Office.[anesthesiology.pubs.asahq.org]
  • […] significance (MGUS) to separate them from MGUS based on need for treatment ( Blood 2012;120:4292 ) ICD coding E85.9 : amyloidosis, unspecified (general, primary) E85.81 : light chain (AL) amyloidosis ICD-O coding 9769/1 : immunoglobulin deposition disease Epidemiology[pathologyoutlines.com]
Sex distribution
Age distribution

Pathophysiology

  • Immunohistochemistry has allowed for better classification and understanding of the pathophysiology of amyloidosis. In the upper aerodigestive tract, amyloidosis is a rare condition occurring most frequently in the larynx.[ncbi.nlm.nih.gov]
  • Islet amyloid and type 2 diabetes; from molecular misfolding to islet pathophysiology. Biochim Biophys Acta. 2001;1537:179-203. Sanchorawala V, Wright DG, Seldin DC, et al.[rarediseases.org]
  • The authors have long thought that texts on pathology ofthe gastrointestinal tract tend to cover the clinical aspects, pathophysiology, and radiology in a rather sketchy fashion.[books.google.it]
  • Incidence: approximately 1 case per 100,000; approximately 3,000 cases in the U.S. per year Most common type of systemic amyloidosis in developed countries (75%) ( Blood 2016;128:159 ) Median age 64, 95% are older than 40 Predominant in men (65 - 70%) Pathophysiology[pathologyoutlines.com]
  • Therefore, we have two major objectives for our research: 1) to understand the pathophysiology of transthyretin amyloidosis so that means to treat or prevent the disease can be found, and 2) continue our study of this disease so that we may be able to[iupui.edu]

Prevention

  • Because of the progressive nature of the disease, early diagnosis to prevent end-stage organ damage is vital.[doi.org]
  • Prevention Because no one knows what causes amyloidosis, there is no way to prevent primary amyloidosis. Secondary amyloidosis can be prevented only by preventing or promptly treating the inflammatory disease that can trigger amyloidosis.[drugs.com]
  • Also call if you have been diagnosed with this disease and have: Decreased urine Difficulty breathing Swelling of the ankles or other body parts that does not go away Prevention There is no known prevention for primary amyloidosis.[ufhealth.org]

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