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Amyloidosis Symptoms & Diagnosis

At the Washington University Amyloid Center, our team of specialists combine their expertise to evaluate your symptoms and diagnose your specific type of amyloidosis. Together, they will work with you to develop the best treatment plan.

AMYLOIDOSIS SYMPTOMS

Patients with amyloidosis can have a variety of symptoms based on the organs affected. Symptoms are typically general and can include:

  • Carpal tunnel syndrome (pain in the wrists)
  • Constipation or diarrhea
  • Enlarged tongue
  • Foamy urine
  • Generalized swelling in the abdomen, arms, legs
  • Leg or arm pain
  • Lightheadedness, dizziness or fainting
  • Lower extremity weakness
  • Peripheral neuropathy
  • Persistent nausea and vomiting
  • Shortness of breath with activity
  • Weakened voice
  • Weight loss or weight gain

AMYLOIDOSIS DIAGNOSIS

Amyloidosis is diagnosed with a combination of tests, including blood and urine tests and special imaging techniques. Laboratory testing may include:

  • 24-hour urine collection to measure protein
  • Blood cardiac biomarkers
  • Blood clotting tests
  • Blood measurements of kidney and liver function along with evaluation of blood proteins
  • Complete blood count
  • Genetic blood testing for genetic mutations (TTR amyloid)

Diagnostic testing may include:

  • Body MRI
  • Cardiac echocardiogram
  • Cardiac MRI
  • Measurement of nerve and muscle function (EMG)
  • PET scans
  • Plain X-rays of the bones (skeletal survey)
  • Technetium pyrophosphate scan

Biopsies

An amyloidosis diagnosis also requires a biopsy to confirm amyloid deposits in tissue. A special tissue biopsy called a Congo red stain detects amyloid. Other special testing may include Immunofluorescence staining. When a biopsy tests positive for amyloid, the tissue sample is sent to a specialized lab for a test called mass spectrometry. This test determines the amyloid subtype, TTR or AL.

Biopsy sites may include:

  • Bone marrow
  • Gastrointestinal tract
  • Heart
  • Kidney
  • Liver
  • Muscle
  • Nerve
  • Skin

AMYLOID EVALUATION: WHAT TO EXPECT

Amyloidosis is a complex disease. It requires comprehensive testing and may involve physicians from different specialties to make the diagnosis. 

Your initial visit to the Amyloid Center will involve a visit with one or more physicians. It may require multiple appointments over a few days to complete testing and evaluation. Our Concierge Services can help coordinate accommodations for patients traveling for treatment. 

LOCATIONS

MULTI-SPECIALTY TEAM

Hematology/oncology

Cardiology

Gastroenterology

Hepatology

Neurology

Nephrology

CLINICAL TRIALS

A Global Study of NEOD001 in Patients With AL Amyloidosis
The VITAL Amyloidosis Study, a Global Phase 3, Efficacy and Safety Study of NEOD001 in Patients With AL Amyloidosis (VITAL)

CyBorD +/- Daratumumab in AL (Light Chain) Amyloidosis
A Study to Evaluate the Efficacy and Safety of Daratumumab in Combination With Cyclophosphamide, Bortezomib and Dexamethasone (CyBorD) Compared to CyBorD Alone in Newly Diagnosed Systemic Amyloid Light-chain (AL) Amyloidosis

Expanded Access of Patisiran for Hereditary ATTR Amyloidosis
Expanded Access Protocol of Patisiran for Patients With Hereditary ATTR Amyloidosis (hATTR)

IXAZOMIB (MLN9708) or Standard Therapy for AL Amyloidosis
Study of Dexamethasone Plus IXAZOMIB (MLN9708) or Physicians Choice of Treatment in Relapsed or Refractory Systemic Light Chain (AL) Amyloidosis

Transythretin-Associated Amyloidosis Survey (THAOS)
THAOS is a global survey open to all patients with transthyretin-associated amyloidoses (ATTR), including ATTR-PN (polyneuropathy), ATTR-CM (cardiomyopathy) and wild-type ATTR-CM. The goal is to better understand the disease by studying a large patient population. Survey data may be used to develop new treatment guidelines and recommendations, and to inform and educate clinicians about the management of this disease.

ATTR Expanded Access Program (EAP) by Ionis
The purpose of this program is to provide expanded access to treatment for up to 100 Patients with Hereditary Transthyretin Amyloidosis (hTTR).

Contact Us

To make an appointment with a Washington University amyloidosis specialist at Barnes-Jewish Hospital, call [Dynamic_Phone_Number].


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