Understanding Amyloidosis

A Comprehensive Guide to Diagnosis, Types, and Treatment Options

Internal Medicine

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Last updated: Mar 24, 2025

What is Amyloidosis?

Amyloidosis is a rare condition that occurs when abnormal proteins called amyloids build up in your organs and tissues. These protein deposits can interfere with normal organ function and lead to serious health complications.

Types of Amyloidosis

Primary (AL) Amyloidosis

  • Most common type in developed countries
  • Caused by abnormal plasma cells in bone marrow
  • Affects heart, kidneys, liver, and other organs

Secondary (AA) Amyloidosis

  • Develops due to chronic inflammatory conditions
  • Often affects kidneys and digestive tract
  • Related to conditions like rheumatoid arthritis

Hereditary Amyloidosis

  • Inherited genetic mutation
  • Often affects nerves and heart
  • Most common form is ATTR amyloidosis

Common Symptoms

  • Fatigue and weakness
  • Shortness of breath
  • Swelling in legs and ankles
  • Numbness or tingling in hands/feet
  • Unexplained weight loss
  • Heart rhythm problems

Diagnosis

  1. Blood and urine tests
  2. Tissue biopsy
  3. Imaging studies (echocardiogram, MRI)
  4. Genetic testing for hereditary forms

Treatment Options

Medication-Based Treatments

  • Chemotherapy for AL amyloidosis
  • Anti-inflammatory drugs
  • Targeted therapies

Other Treatments

  • Stem cell transplantation
  • Organ transplantation if necessary
  • Supportive care for symptoms

Living with Amyloidosis

  • Regular medical monitoring
  • Lifestyle modifications
  • Diet and exercise adjustments
  • Support group participation

When to Seek Medical Care

Contact your healthcare provider if you experience:

  • Severe fatigue
  • Difficulty breathing
  • Significant swelling
  • Unexplained weight loss
  • Persistent numbness

Prevention and Management

  • Regular check-ups
  • Early intervention
  • Medication compliance
  • Lifestyle modifications
  • Stress management

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