Here, we present a case of Primary Amyloidosis presenting as Pure Autonomic Failure (Dysautonomia). [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]

  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]

  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]

  Non-hematologic toxicities were mainly neurotoxicity, fatigue, peripheral edema, constipation and exacerbation of postural hypotension. [doi.org]

• Hodgkin Lymphoma

  As an unlisted condition, it is rated by analogy to non-Hodgkin's lymphoma using the “built-up” diagnostic code 7799-7715. [federalregister.gov]

  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]

  It may be associated with multiple myeloma or other B-cell lymphoproliferative diseases, like non-Hodgkin lymphoma, Waldenstrom hypergammaglobulinemia or monoclonal gammopathy of undetermined significance (MGUS). 1,2 If untreated, AL amyloidosis has a [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]

• Myxedema

  Diffuse infiltrates may resemble infiltrates of scleroderma or myxedema. Scalp involvement may appear as diffuse or patchy alopecia. [13] Dystrophic nail changes include brittleness, crumbling, and subungual striation. [emedicine.medscape.com]

• 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]

• Cough

  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]

• 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]

• Hypotension

  Other grade 3 toxicities were diarrhea, constipation and orthostatic hypotension. [doi.org]

  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]

  Autonomic neuropathy may result in symptomatic postural hypotension, impotence, and disturbances in gastrointestinal motility. [emedicine.medscape.com]

  Orthostatic hypotension was confirmed and an echocardiography was ordered to exclude heart disease. [bmcgastroenterol.biomedcentral.com]

  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]

• Blister

  Blood-filled blisters may form, for example on pinching the skin. The nails may be crumbly and brittle (nail dystrophy ). Patches of hair loss may arise (diffuse alopecia ). [dermnetnz.org]

  A wide range of skin lesions have been described, from the characteristic periorbital haematoma, to various papules, nodules, patches or, exceptionally, blisters, mainly localized on the face and trunk (Figure 1 B). [ojrd.biomedcentral.com]

• Skin Rash

  Symptoms Symptoms may include: Abnormal menstrual bleeding Bleeding of the gums Bruising Nosebleeds Skin rash Note: Most women with heavy or prolonged menstrual bleeding do not have von Willebrand disease. [mclarenhealthplan.org]

  Skin rashes were experienced in 43%. 71 Lenalidomide combined with dexamethasone has been used in a small cohort of patients refractory to alkylators, bortezomib and thalidomide, with a 41% response rate and survival advantage in responders, indicating [haematologica.org]

• Urticaria

  Cryoglobulins are immunoglobulins that precipitate when cooled and re-dissolve when heated, resulting in temperature-dependency of clinical manifestations such as Raynaud phenomenon, acrocyanosis, and cold urticaria. [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]

• 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]

• 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]

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]

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]

Although various strategies have been proposed for evaluation, there are still cases with undetermined origins even after extensive workup. [bmcgastroenterol.biomedcentral.com]

• Colitis

  Previously known as secondary amyloidosis, this condition is the result of another chronic infectious or inflammatory disease such as rheumatoid arthritis, Crohn’s disease, or ulcerative colitis. [webmd.com]

  Rarely, Whipple’s disease, microscopic colitis, eosinophilic gastritis and lymphoma also manifest as chronic diarrhea [ 5 ]. [bmcgastroenterol.biomedcentral.com]

• Amyloid Plaque

  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]

  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]

  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]

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]

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]

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]

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: 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]

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]

The aim of chemotherapy is to suppress the bone marrow plasma cells and prevent production of the amyloid protein. [news-medical.net]

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. [ufhealth.org]