Overview
Primary systemic amyloidosis, also known as AL amyloidosis (immunoglobulin light chain amyloidosis), is a serious condition in which abnormal proteins called amyloid build up in organs and tissues throughout the body. These abnormal proteins are produced by plasma cells in the bone marrow — the same type of cells involved in a blood cancer called multiple myeloma. In AL amyloidosis, the plasma cells make misfolded pieces of antibodies (called light chains) that clump together and deposit in organs such as the heart, kidneys, liver, nerves, and digestive tract. Over time, these deposits damage the organs and prevent them from working properly. Symptoms depend on which organs are affected. Common problems include swelling in the legs and ankles, extreme tiredness, shortness of breath, numbness or tingling in the hands and feet, unexplained weight loss, and an enlarged tongue. Heart involvement (amyloid cardiomyopathy) is especially dangerous and can lead to heart failure. Kidney involvement often causes large amounts of protein to leak into the urine. Treatment focuses on stopping the production of the abnormal light chains. This is done using chemotherapy drugs similar to those used for multiple myeloma, sometimes combined with stem cell transplant. Newer therapies including daratumumab have significantly improved outcomes. Supportive care to manage organ damage is also very important. Early diagnosis and treatment are critical because organ damage can become irreversible if the disease progresses too far.
Also known as:
Key symptoms:
Extreme tiredness and fatigueSwelling in the legs, ankles, or feetShortness of breath, especially with activityNumbness or tingling in hands and feetUnexplained weight lossEnlarged tongue (macroglossia)Foamy or frothy urine from protein lossFeeling full quickly when eatingDizziness or lightheadedness when standing upEasy bruising, especially around the eyes (raccoon eyes)Irregular heartbeat or heart palpitationsDiarrhea or constipationDifficulty swallowingCarpal tunnel syndrome in both wristsSkin thickening or waxy appearance
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
4 eventsSecond Affiliated Hospital, School of Medicine, Zhejiang University — PHASE1, PHASE2
Peking University People's Hospital — NA
Zhongshan Ophthalmic Center, Sun Yat-sen University — NA
Brigham and Women's Hospital — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Primary systemic amyloidosis.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersPeking University First Hospital
📍 Beijing, Beijing Municipality
Stanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🏥 NORDBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
Travel Grants
No travel grants are currently matched to Primary systemic amyloidosis.
Community
No community posts yet. Be the first to share your experience with Primary systemic amyloidosis.
Start the conversation →Latest news about Primary systemic amyloidosis
Disease timeline:
New trial: The Impact of Systemic Light Chain Amyloidosis on Eyes
Phase NA trial recruiting.
New trial: Rapid dFLC Response Predict CHR in AL Amyloidosis
Phase NA trial recruiting. Dara IV
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which of my organs are affected by amyloid, and how much damage has occurred so far?,What is my cardiac staging, and what does that mean for my outlook?,Am I a candidate for stem cell transplant, and what are the risks and benefits?,What treatment regimen do you recommend, and what side effects should I expect?,How will we monitor my response to treatment, and how often will I need testing?,Should I be seen at a specialized amyloidosis center for a second opinion?,Are there any clinical trials available that might be appropriate for me?
Common questions about Primary systemic amyloidosis
What is Primary systemic amyloidosis?
Primary systemic amyloidosis, also known as AL amyloidosis (immunoglobulin light chain amyloidosis), is a serious condition in which abnormal proteins called amyloid build up in organs and tissues throughout the body. These abnormal proteins are produced by plasma cells in the bone marrow — the same type of cells involved in a blood cancer called multiple myeloma. In AL amyloidosis, the plasma cells make misfolded pieces of antibodies (called light chains) that clump together and deposit in organs such as the heart, kidneys, liver, nerves, and digestive tract. Over time, these deposits damage
How is Primary systemic amyloidosis inherited?
Primary systemic amyloidosis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Primary systemic amyloidosis typically begin?
Typical onset of Primary systemic amyloidosis is adult. Age of onset can vary across affected individuals.
Are there clinical trials for Primary systemic amyloidosis?
Yes — 3 recruiting clinical trials are currently listed for Primary systemic amyloidosis on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Primary systemic amyloidosis?
21 specialists and care centers treating Primary systemic amyloidosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.