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]

• Weight Loss

  She had muscular weakness, weight loss, paresthesia of hand, hoarseness, oedema, dyspnoea, macroglossia, dysphagia & purpura. There was extreme fragility of both involved or non-involved skin. [ijdvl.com]

  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]

  Initial symptoms of fatigue and weight loss are frequent, but the diagnosis is rarely made until symptoms referable to a specific organ appear. [web.archive.org]

  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]

  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]

  We report a case of 68 years old male presented with generalized weakness, fatigue, anorexia and impaired taste sensation. [edoj.org.eg]

• 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]

  Mild renal dysfunction is frequent, but rapidly progressing renal failure is rare. Cardiac involvement, often with congestive heart failure, is a common presentation. [web.archive.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]

• 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]

  This may result in a condition called nephrotic syndrome, where there is excess protein in the urine and the lower legs can become swollen (also called “edema”). Swelling can affect the belly, arms, and lungs as well. [amyloidosis.org]

• Hodgkin Lymphoma

  Systemic AL amyloidosis due to non-Hodgkin's lymphoma: an unusual clinicopathologic association. Br J Haematol. 2004 ; 124 : 309 -314. ↵ Comenzo RL, Zhang Y, Martinez C, Osman K, Herrera GA. [doi.org]

  Palavras-Chave: Amiloidose; Cútis laxa; Mieloma múltiplo; Mucinoses INTRODUCTION Systemic amyloidosis may occur associated to clonal lymphoid diseases in which immunoglobulins are produced, including non-Hodgkin's lymphoma, Waldenström's macroglobulinemia [scielo.br]

  Although AL amyloidosis typically is viewed as a rare disease, its incidence is similar to that of Hodgkin’s lymphoma or chronic myelogenous leukemia ( 2 ). [cjasn.asnjournals.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]

  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. [email protected] Abstract A 73-year-old woman was admitted due to exertional dyspnea. [ncbi.nlm.nih.gov]

  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]

  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]

  Airway involvement leads to dyspnea, wheezing, hemoptysis, or airway obstruction. Infiltration of the myocardium causes a restrictive cardiomyopathy, eventually leading to diastolic dysfunction and heart failure; heart block or arrhythmia may occur. [merckmanuals.com]

• Cough

  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]

  Periorbital purpura (raccoon eyes) can be elicited by increased intrathoracic pressure as a result of the Valsalva maneuver and coughing. Amyloid infiltration of blood vessels also manifests as petechiae and ecchymoses. [clinicaladvisor.com]

  Amyloid deposits cause weakening of the blood vessels, which may rupture after minor trauma, such as sneezing or coughing. [merckmanuals.com]

  Periorbital purpura is a result of capillary fragility and may appear after coughing, sneezing, or straining for a bowel movement. Not infrequently, purpuric lesions may arise after such simple actions as rubbing the eyelids. [rarediseases.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]

• 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]

  Nervous system features include peripheral sensory neuropathy, carpal tunnel syndrome, and autonomic dysfunction with gastrointestinal motility disturbances (early satiety, diarrhea, constipation) and orthostatic hypotension. [web.archive.org]

• Tachycardia

  Further examinations were planned but she died of ventricular tachycardia attack. Pathological autopsy revealed primary systemic amyloidosis. [ncbi.nlm.nih.gov]

  Electrocardiogram (ECG) showed sinus tachycardia, low QRS voltage and a Q-wave in precordial leads V1–V4. A coronary angiogram was normal. IgG kappa monoclonal protein was detected in her serum and urine Figure 1. [bjcardio.co.uk]

  […] death in AL, 8 and, in our preliminary experience with conventional high-dose dexamethasone, we observed a relevant proportion of treatment-related fatal arrhythmias. 6 Therefore, patients in whom the Holter ECG detected couplets and/or ventricular tachycardia [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]

  Amyloidosis is the commonest cause of macroglossia in adults. [3] Macroglossia if severe might lead to dysphagia. Macroglossia with tooth indentation was present in all our three cases. Hepatomegaly occurs in 50% of patients and splenomegaly in 10%. [ijdvl.com]

  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]

  claudication, skin lesions EMG Carpal tunnel syndrome Direct biopsy Histological Selecting biopsy site In the 1960s, rectal and gingival mucosa biopsies were considered useful indirect alternatives to deep organ biopsies for the diagnosis of amyloidosis [ncbi.nlm.nih.gov]

• 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]

  Physical examination at the time was significant for a firm, indurated right-sided submandibular mass, hepatomegaly and mild epigastric tenderness. [karger.com]

  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]

  Hepatomegaly occurs in 50% of patients and splenomegaly in 10%. Hepatomegaly was present in our case 1. Cardiac involvement leads to conduction defects, arrhythmias, congestive cardiac failure and may account for 40% of deaths. [ijdvl.com]

• Purpura

  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]

  KEYWORDS: Bullae; Oral purpura; Systemic amyloidosis [ncbi.nlm.nih.gov]

  Nodular or localized cutaneous amyloidosis Lichen amyloidosis Scleredema Scleromyxedema Lipoid proteinosis Colloid milium Mastocytosis Solar purpura Sebaceous hyperplasia Purpura secondary to ASA or over-anticoagulation Best Tests Subscription Required [visualdx.com]

• Kidney Failure

  Complications such as heart failure, kidney failure, and other problems can sometimes be treated, when needed. How well you do depends on which organs are affected. Heart and kidney involvement may lead to organ failure and death. [nlm.nih.gov]

  Kidney failure Most people with AL amyloidosis have a build-up of amyloid proteins (amyloid deposits) in their kidneys, and are at risk of kidney failure. [nhs.uk]

  Oedema (tissue swelling) develops as a result of heart failure or nephrotic syndrome (kidney disease). Hepatomegaly (enlarged liver). [dermnetnz.org]

  Fifty-three percent of deaths were due to cardiac amyloid, 12% to respiratory failure, 7% to macroglobulinemia, 7% to liver failure, and 7% to kidney failure. [jco.ascopubs.org]

• 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]

  Neurologic symptoms include a sensory peripheral neuropathy, presenting in a stocking and glove distribution. An "idiopathic" carpal tunnel syndrome can also occur. [visualdx.com]

  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]

  Symptoms of autonomic neuropathy such as erectile dysfunction (in males), diarrhoea and/or constipation, weight loss, and low blood pressure on standing are more common than peripheral neuropathy. [amyloidosis.org.uk]

  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]

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]

[…] 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 [cutis.com]

BM examination should be part of the diagnostic workup for all IgA and IgM M-proteins. [doi.org]

• Pericardial Effusion

  It was considered that a large amount of pericardial effusion caused diastolic heart failure; pericardial paracentesis showed bloody effusion. There were no findings of malignancy or other abnormal findings in the examination. [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 and amyloid fibrils is also well documented in the case of Aβ amyloid plaques 60, 61, whereas, to our knowledge, this is the first report of the enrichment of this lipid in amyloid-positive regions in AL amyloidosis. [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]

  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]

• Low-Voltage Electrocardiogram

  Amyloidosis should be suspected in certain clinical settings, including nephrotic syndrome with albuminuria rather than Bence Jones proteinuria, peripheral or autonomic neuropathy, diastolic heart failure with normal- or low-voltage electrocardiogram [hematologyandoncology.net]

• 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]

  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]

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 two cycles of treatment. [doi.org]

Delay in treatment worsens the prognosis. KEYWORDS: Amylosis; Charcot arthropathy; Diabetic foot; MRI; Nerve biopsy; Neuroarthropathy [ncbi.nlm.nih.gov]

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]

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]

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]

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]

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]

"Leukocyte Cell-Derived Chemotaxin-2: It's Role in Pathophysiology and Future in Clinical Medicine". Clinical and Translational Science. 10 (4): 249–259. doi : 10.1111/cts.12469. PMC 5504477. [en.wikipedia.org]

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]

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]