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Systemic Amyloidosis


Presentation

  • These two patients presented with typical waxy lesions on face. Cutis verticis gyrata was present in one case and carpal tunnel syndrome was seen in other case as an additional diagnostic clue. Macroglossia was present in all three cases.[ncbi.nlm.nih.gov]
  • Our purpose is to present a new case of systemic amyloidosis with a bilateral conjunctival involvement.[ncbi.nlm.nih.gov]
  • Systemic amyloidosis presenting with a penile ulcer as the first manifestation has not previously been reported. We present two patients in whom an ulcer of the glans penis was the first complaint that led to a diagnosis of systemic amyloidosis.[ncbi.nlm.nih.gov]
  • A patient with subretinal and preretinal hemorrhage after secondary systemic amyloidosis due to familial Mediterranean fever is presented. Case presentation.[ncbi.nlm.nih.gov]
  • PURPOSE: To present the multimodal imaging findings of four patients with systemic amyloidosis, renal failure, and chorioretinopathy.[ncbi.nlm.nih.gov]
Weight Loss
  • Later, she developed dyspepsia and weight loss. An oesophagogastroduodenoscopy (OGD) showed Helicobacter pylori negative erosive gastritis with a benign duodenal ulcer. Whole body CT scan was normal.[ncbi.nlm.nih.gov]
  • The most common symptoms of GI amyloidosis were diarrhea (11 patients, 45.8%), followed by anorexia (nine patients, 37.5%), weight loss, and nausea and/or vomiting (seven patients, 29.2%).[ncbi.nlm.nih.gov]
  • Case Report A 60-year-old fair complexioned woman was admitted to our hospital because of dyspnoea specially on recumbency, pedal oedema, severe weakness confining her to bed and wheel-chair, weight loss, dysphagia and hoarseness of voice for the last[ijdvl.com]
  • loss The condition that is causing the amyloidosis should be treated.[medlineplus.gov]
Fatigue
  • These deposits damage normal tissues, leading to the symptoms or signs of this illness: Bleeding in the skin Fatigue Irregular heartbeat Numbness of hands and feet Rash Shortness of breath Swallowing difficulties Swollen arms or legs Swollen tongue Weak[medlineplus.gov]
  • We report a case of 68 years old male presented with generalized weakness, fatigue, anorexia and impaired taste sensation.[edoj.org.eg]
  • Unusual longivity for 19 years have been reported with combined melphalan, prednisolone and colchicine treatment and is the longest reported in literature. [5] Because presenting symptoms are rather commonly nonspecific (including fatigue, weight loss[ijdvl.com]
Congestive Heart Failure
  • We present a case of primary systemic amyloidosis causing constrictive pericarditis (CP) and congestive heart failure without clinical evidence of endomyocardial deposition.[ncbi.nlm.nih.gov]
  • Results of a chest x-ray noted bilateral pleural effusions consistent with congestive heart failure.[cutis.com]
  • For example, kidney failure can be treated with dialysis and congestive heart failure with diuretics. Specific treatment Chemotherapy with melphalan and prednisone or dexamethasone (oral corticosteroids) can control systemic amyloidosis.[dermnetnz.org]
  • Primary amyloidosis can lead to conditions that include: Carpal tunnel syndrome Heart muscle damage ( cardiomyopathy ) leading to congestive heart failure Intestinal malabsorption Liver swelling and malfunction Kidney failure Nephrotic syndrome (group[nlm.nih.gov]
Hodgkin's Disease
  • Neoplasias are also an uncommon cause of systemic amyloidosis, especially in renal cell carcinoma or Hodgkin’s disease. 1,5,6 GIST constitutes less than 1% of tumours of the digestive system.[revistanefrologia.com]
  • disease -- cancer of the lymph tissue Juvenile chronic arthritis -- arthritis that affects children Kidney dialysis Multiple myeloma -- a type of blood cancer Reiter syndrome -- a group of conditions that causes swelling and inflammation of the joints[mountsinai.org]
  • It is noteworthy that reactive or secondary amyloidosis can occasionally occur in patients with other neoplasms (hepatocellular carcinoma, renal cell carcinoma, Castleman's disease, Hodgkin's disease, adult hairy cell leukemia).[doi.org]
Leg Edema
  • During this observation period, the level of IgE gradually increased and, at 2 years after the initial diagnosis, bilateral leg edema and ascites with marked hepatosplenomegaly appeared.[ncbi.nlm.nih.gov]
  • Case report and management: We report a case in a 66-year-old patient with legs edema, inappetence and frothy urine for 2 weeks. The patient was diagnosed type 2 diabetes on routine testing 10 years ago without any symptoms.[omicsonline.org]
  • NT-proBNP is another “biomarker” that should be performed, especially if a person has symptoms such as swelling in the legs (edema), difficulty breathing, shortness of breath, and fatigue. It is used to detect heart stress or strain.[amyloidosis.org]
Pleural Effusion
  • We report the case of a 73-year-old woman with primary systemic AL and persistent bilateral pleural effusions, refractory to diuresis and repeated thoracenteses.[ncbi.nlm.nih.gov]
  • Persistent pleural effusions (PPE) occur in 1-2% of cases of systemic amyloidosis and have been postulated to result from direct disruption of the pleura by amyloid deposits.[ncbi.nlm.nih.gov]
  • His skiagram chest showed minimal left sided pleural effusion which had no pus cells despite high protein content. The diagnosis was established on the basis of classical cutaneous lesions.[edoj.org.eg]
  • Results of a chest x-ray noted bilateral pleural effusions consistent with congestive heart failure.[cutis.com]
Dyspnea
  • Author information 1 Division of Cardiology, Health Insurance Hitoyoshi General Hospital, Kumamoto. k-toyama@arion.ocn.ne.jp Abstract A 73-year-old woman was admitted due to exertional dyspnea.[ncbi.nlm.nih.gov]
  • A patient who presented with dyspnea and suspected interstitial pulmonary fibrosis suffered a fatal pulmonary haemorrhage with no feasible cause for bleeding.[ncbi.nlm.nih.gov]
  • Some of the more common findings during a review of systems include the following: weight loss, weakness/fatigue, dyspnea, edema, paresthesias, light-headedness, syncope, constipation/diarrhea, and hoarseness/change of voice.[clinicaladvisor.com]
  • Response to treatment Fourteen patients had a 50% or greater reduction of proteinuria; 6 had a 2-mm or more decrease in IVS thickness associated with resolution of heart failure; 1 patient, with lung involvement, had complete resolution of dyspnea and[doi.org]
  • The majority of patients had significant morbidity related to their amyloidosis: peripheral edema (89%), weight loss (50%), syncope (17%), dyspnea (67%), neuropathic pain (22%), and orthostatic hypotension (39%).[doi.org]
Delayed Gastric Emptying
  • Autonomic nervous system involvement by AL amyloidosis can lead to orthostatic hypotension, early satiety as a result of delayed gastric emptying, erectile dysfunction, and intestinal motility issues.[doi.org]
Macroglossia
  • Macroglossia was present in all three cases. Diagnosis was confirmed in all three cases by biopsy using haematoxylin and eosin staining and Congo red staining. Polarized microscopy was not done because of unavailability.[ncbi.nlm.nih.gov]
  • In addition, the classical triad of carpal tunnel syndrome, macroglossia, and specific mucocutaneous lesions, seen in half of the patients, is absent.[e-ijd.org]
  • The final diagnosis was made because of the following criteria: missing monoclonal gammopathy, no periorbital bleeding and macroglossia, and presence of an amyloidogenic mutation. Of the 5 remaining patients, 4 had AL amyloidosis.[doi.org]
  • Amyloidosis deposition in the tongue of multiple myeloma occurs frequently and can result in macroglossia, which is the most common oral finding [ 7 , 8 , 9 ].[edoj.org.eg]
Jaw Claudication
  • Jaw claudication in primary amyloidosis: unusual presentation of a rare disease . J. Rheumatol. 30 , 2283–2286 (2003). 20. Stebbing, J. , Buetens, O. , Hellman, D. & Stone, J.[nature.com]
Hypotension
  • On examination she had postural hypotension, raised jugular venous pressure, hepatomegaly and pitting pedal oedema. Electrocardiogram (ECG) showed sinus tachycardia, low QRS voltage and a Q-wave in precordial leads V1–V4.[bjcardio.co.uk]
  • Other grade 3 toxicities were diarrhea, constipation and orthostatic hypotension.[doi.org]
  • Carpel tunnel syndrome is present in 25% of cases, sensory neuropathy (18%), postural hypotension (16%) are the other common manifestations.[edoj.org.eg]
  • […] colchicine treatment and is the longest reported in literature. [5] Because presenting symptoms are rather commonly nonspecific (including fatigue, weight loss, paresthesia, hoarseness, oedema, dyspnoea and lightheadedness or syncope secondary to orthostatic hypotension[ijdvl.com]
Hepatomegaly
  • Examination and tests in this patient also revealed anemia, hepatomegaly, infiltrative cardiomyopathy, polyneuropathy and immunoglobulin l deposition, favoring a diagnosis of primary amyloidosis (AL type).[ncbi.nlm.nih.gov]
  • Key words: AL Amyloidosis, Proteinuria, Hepatomegaly Advertisement Journal of Contemporary Medical Education SUBMIT YOUR ARTICLE NOW[scopemed.org]
  • On examination she had postural hypotension, raised jugular venous pressure, hepatomegaly and pitting pedal oedema. Electrocardiogram (ECG) showed sinus tachycardia, low QRS voltage and a Q-wave in precordial leads V1–V4.[bjcardio.co.uk]
  • Article 122 Downloads 25 Citations Opinion statement Patients with unexplained heart failure, hepatomegaly, nephrotic syndrome, or peripheral neuropathy should be evaluated for primary systemic (amyloid lightchain, or AL) amyloidosis by first seeking[link.springer.com]
Purpura
  • KEYWORDS: Bullae; Oral purpura; Systemic amyloidosis[ncbi.nlm.nih.gov]
  • Multiple cutaneous manifestations of amyloidosis have been described, and include periorbital purpura, plaques, nodules, and papules. Blue skin tint is not a previously described feature of cutaneous amyloidosis.[ncbi.nlm.nih.gov]
  • A 65-year-old male presented with hemorrhagic bullous skin lesions with purpura and ecchymoses. There was increased skin fragility with a strongly positive Nikolsky sign.[ncbi.nlm.nih.gov]
  • Here we described a case who had purpura-like lesions in the initial stage, followed by progressive malfunctions in the kidneys, the heart, the lungs, as well as the liver.[ncbi.nlm.nih.gov]
  • Purpura of the eyelids following pinching (pinch purpura) and periorbital purpura following coughing, vomiting, the Vulsalva manoeuver, forced expiration spirometric testing and proctoscopy (post proctoscopic palpabral purpura PPP) are very characteristic[ijdvl.com]
Peripheral Neuropathy
  • Chronic peripheral neuropathy occurs as a manifestation of AL amyloidosis in 25 % of cases. It may exceptionally be complicated by neuroarthropathy.[ncbi.nlm.nih.gov]
  • The peripheral nervous system did not show any tracer uptake even in patients with apparent peripheral neuropathy.[ncbi.nlm.nih.gov]
  • Neurologic symptoms include a sensory peripheral neuropathy, presenting in a stocking and glove distribution. An "idiopathic" carpal tunnel syndrome can also occur.[visualdx.com]
  • Cardiomyopathy and peripheral neuropathy were identified in only systemic amyloidosis cohort (65% and 50%, respectively).[n.neurology.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]

Workup

  • Further workup demonstrated a monoclonal gammopathy consistent with systemic amyloidosis. This case demonstrates the need to consider amyloidosis in the differential diagnosis of patients presenting with an atypical acquired strabismus.[ncbi.nlm.nih.gov]
  • Finally, if ocular amyloidosis is detected, patients should be referred for systemic workup.[ncbi.nlm.nih.gov]
  • […] 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]
  • BM examination should be part of the diagnostic workup for all IgA and IgM M-proteins.[doi.org]
Pericardial Effusion
  • There are no reports of primary systemic amyloidosis with hemorrhagic pericardial effusion. We report this rare case with pathological consideration. [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • There was thickening of the cardiac valves and atrial septum, dilatation of the atria, inferior vena cava and hepatic veins, with systolic flow reversals, and a small circumferential pericardial effusion.[bjcardio.co.uk]
  • He had an elevated jugular venous pressure but the heart sounds were normal; there were no murmurs or pericardial effusion noted. The remaining systemic examination was within normal limits.[rossscience.org]
  • A small area of pericardial effusion was found. Ultrasound showed hepatomegaly (the diameter of right lobe was 22 cm) with homogeneous echo.[omicsonline.org]
Thrombocytosis
  • Her past medical history was remarkable for membranoproliferative glomerulonephritis, hypertension, pulmonary hypertension, and anemia of thrombocytosis.[cutis.com]
Amyloid Plaque
  • Co-localization of cholesterol, apolipoprotein E and fibrillar Aβ in amyloid plaques. Mol. Brain. Res. 110, 119–125 (2003). [ PubMed ] [ Google Scholar ] Solé-Domènech S. et al.[ncbi.nlm.nih.gov]
  • Co-localization of cholesterol, apolipoprotein E and fibrillar Aβ in amyloid plaques. Mol. Brain. Res. 110, 119–125 (2003). 61. Solé-Domènech, S. et al.[doi.org]
  • Although the causative protein is the main constituent of amyloid plaques, the amyloid proteome is complex and a number of other proteins are frequently co-deposited.[haematologica.org]
  • Tucker SM, Borchelt DR, Troncoso JC (2008) Limited clearance of pre-existing amyloid plaques after intracerebral injection of Abeta antibodies in two mouse models of Alzheimer disease.[doi.org]
  • Note that in Alzheimer’s disease, there are “amyloid plaques” in the brain, but these are not formed from light chains, and AL patients have no increased susceptibility to Alzheimer’s disease, compared with the general population.[amyloidosis.org]
Pleural Effusion
  • We report the case of a 73-year-old woman with primary systemic AL and persistent bilateral pleural effusions, refractory to diuresis and repeated thoracenteses.[ncbi.nlm.nih.gov]
  • Persistent pleural effusions (PPE) occur in 1-2% of cases of systemic amyloidosis and have been postulated to result from direct disruption of the pleura by amyloid deposits.[ncbi.nlm.nih.gov]
  • His skiagram chest showed minimal left sided pleural effusion which had no pus cells despite high protein content. The diagnosis was established on the basis of classical cutaneous lesions.[edoj.org.eg]
  • Results of a chest x-ray noted bilateral pleural effusions consistent with congestive heart failure.[cutis.com]

Treatment

  • In the past he had received treatment for undefined hepatic disease and anemia, which was established during the treatment of pathological vertebral fractures.[ncbi.nlm.nih.gov]
  • Only a few studies have shown the role of TNFα ihibitors in the treatment of AA amyloidosis over a long term period.[ncbi.nlm.nih.gov]
  • After 3 months of anakinra treatment, the laboratory findings returned to normal and excessive proteinuria disappeared.[ncbi.nlm.nih.gov]
  • Treatment with bortezomib and dexamethasone was initiated; due to side effects, the treatment was later switched to lenalidomide, which was better tolerated.[ncbi.nlm.nih.gov]
  • The patient responded to treatment with chemotherapy and corticosteroids.[ncbi.nlm.nih.gov]

Prognosis

  • METHODS: Electronic databases MEDLINE, PubMed, Embase, and Cochrane were systematically searched to identify studies evaluating the association between LGE-CMR and prognosis in systemic amyloidosis with cardiac involvement.[ncbi.nlm.nih.gov]
  • Delay in treatment worsens the prognosis. KEYWORDS: Amylosis; Charcot arthropathy; Diabetic foot; MRI; Nerve biopsy; Neuroarthropathy[ncbi.nlm.nih.gov]
  • Due to the progressive character of the disease and poor prognosis, the patients have been considered for liver transplantation, which at present is the only treatment option for this disease.[ncbi.nlm.nih.gov]
  • The prognosis depends on the treatment of the amyloidosis and the underlying chronic disease.[ncbi.nlm.nih.gov]
  • Because amyloidosis is a disease with a poor prognosis, early diagnosis and treatment are required; gastroenterologists and endoscopists play important roles. 2017 Journal of Gastroenterology and Hepatology Foundation and John Wiley & Sons Australia,[ncbi.nlm.nih.gov]

Etiology

  • Abstract Amyloidosis is a broad and complex class of diseases that comprises several etiologies, many manifestations, and a diversity of outcomes.[ncbi.nlm.nih.gov]
  • Unfortunately, during the initial treatment he did not consent to a liver biopsy, which would have determined the etiology of the disease. Systemic infiltrative disease, affecting the spleen and other organs, was confirmed posthumously.[ncbi.nlm.nih.gov]
  • A detailed search for the etiology of systemic amyloidosis revealed heterozygous mutation in the Mediterranean fever gene.[ncbi.nlm.nih.gov]
  • In the differential diagnosis of ascites, one seldom considers systemic amyloidosis as a potential etiologic factor.[jamanetwork.com]
  • A patient with nephrotic syndrome, without a clear etiology, should be further evaluated for primary systemic amyloidosis.[clinicaladvisor.com]

Epidemiology

  • BACKGROUND: The epidemiology of systemic amyloidosis has been changing in the last decades.[ncbi.nlm.nih.gov]
  • Abstract Epidemiological studies of systemic amyloidosis are scarce and the burden of disease in England has not previously been estimated.[ncbi.nlm.nih.gov]
  • This Seminar focuses on changes in their epidemiology, the current approach to diagnosis, and advances in treatment.[ncbi.nlm.nih.gov]
  • "The epidemiology of AL and AA amyloidosis". Baillieres Clin Rheumatol. vol. 8. 1994. pp. 627-34.[clinicaladvisor.com]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • A recent review of this complication of the disease hypothesized that the pathophysiology of these effusions is pleural amyloid deposition, disrupting lymphatic drainage.[ncbi.nlm.nih.gov]
  • Areas covered: Improved understanding of the pathophysiology is indicating novel steps and molecules that could be therapeutically targeted.[ncbi.nlm.nih.gov]
  • Perhaps a more thorough study of the pathophysiology linking these two entities would open the way for the development of more effective therapeutic tools.[revistanefrologia.com]
  • 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]
  • Pathophysiology The exact mechanism that promotes the conversion of immunoglobulin light chains into fibrils is also not entirely clear.[clinicaladvisor.com]

Prevention

  • Early medical intervention to control chronic inflammation is imperative and could prevent morbidity and mortality related to the development of secondary amyloidosis.[ncbi.nlm.nih.gov]
  • We review other reports of isolated amyloid deposition in extraocular muscles and its association with systemic amyloidosis, emphasizing the importance of the ophthalmologist in the early recognition of this disease to prevent irreversible, life-threatening[ncbi.nlm.nih.gov]
  • This may help prevent amyloidosis. References Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 188. Version Info Last reviewed on: 5/21/2017 Reviewed by: Laura J.[mountsinai.org]
  • This may help prevent amyloidosis. Amyloidosis - secondary systemic Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine . 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 188. Updated by: Laura J.[medlineplus.gov]
  • This may help prevent amyloidosis. Amyloidosis - secondary systemic Gertz MA. Amyloidosis. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 188. Updated by: Laura J.[nlm.nih.gov]

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