Presentation
Here, we present a case of Primary Amyloidosis presenting as Pure Autonomic Failure (Dysautonomia). [ncbi.nlm.nih.gov]
Immune System
- 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]
Entire Body System
- 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]
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]
[…] head and neck are affected include: Lighheadedness upon standing Purple color on the eyelids and/or around they eyes Enlarged tongue Symptoms indicating the heart and lungs are affected include: Shortness of breath Palpitations (arrhythmias) Chest pain Fatigue [my.clevelandclinic.org]
Other symptoms can include stroke, gastrointestinal disorders, enlarged liver, diminished spleen function, diminished function of the adrenal and other endocrine glands, skin color change or growths, lung problems, bleeding and bruising problems, fatigue [en.wikipedia.org]
- Intravenous Administration
Omeprazole was given to all patients at least during the administration of dexamethasone. Supportive treatment for edema, congestive heart failure or autonomic neuropathy was administered according to clinical requirements. [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]
Hematological
- 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]
Typically, in amyloidosis there is a combination of symptoms affecting more than a single system - eg, fatigue, weight loss, easy bruising, breathlessness, peripheral oedema, sensory change, carpal tunnel syndrome, and postural hypotension. [patient.info]
Gastrointestinal
- Abdominal Pain
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]
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]
Jaw & Teeth
- 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]
Cardiovascular
- 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]
Measurement of the left ventricular ejection fraction, and dilatation of the left atrium are also prognostic markers [ 6, 7, 10 – 12 ]. [ojrd.biomedcentral.com]
Musculoskeletal
- 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]
- Arthralgia
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]
[…] 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]
Urogenital
- 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]
Neurologic
- 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]
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]
Peripheral neuropathy and cardiomyopathy may occur as well as kidney impairment and proteinuria. Nephropathy affects patients with late-onset neuropathy, low penetrance in the family, and cardiac dysrhythmias. [patient.info]
- 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]
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]
BM examination should be part of the diagnostic workup for all IgA and IgM M-proteins. [doi.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]
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]
Serum
- 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]
- Glomerular Filtration Rate Decreased
We analyzed separately patients with baseline estimated glomerular filtration rate > (n = 312) and < (n = 65) 30 mL/min per 1.73 m 2. [doi.org]
QT, RR, ST Intervals
- 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]
Prognosis
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]
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]
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]
The etiology of amyloidosis is unknown. [1], [2] Immunological mechanisms are considered to play a role. [indianjurol.com]
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]
[…] 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]
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]
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]
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]
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]
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]
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]
Prevention
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]
Because of the progressive nature of the disease, early diagnosis to prevent end-stage organ damage is vital. [doi.org]
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. [mountsinai.org]