Overview
AH amyloidosis is a rare form of amyloidosis caused by the abnormal buildup of a protein called heavy chain immunoglobulin (specifically the heavy chain fragment, abbreviated 'AH') in tissues and organs throughout the body. Amyloidosis is a group of diseases where proteins fold into the wrong shape and clump together, forming deposits called amyloid fibrils. These deposits are like sticky plaques that build up inside organs and slowly damage them over time. In AH amyloidosis, the abnormal protein usually comes from a type of blood cell called a plasma cell, which is found in the bone marrow. When these cells produce too much or abnormal heavy chain protein, it can deposit in organs such as the kidneys, heart, liver, and digestive tract. This can lead to organ damage and a wide range of symptoms depending on where the deposits form. Symptoms can include swelling, fatigue, kidney problems, and heart issues. Treatment focuses on reducing the production of the abnormal protein — often by targeting the underlying plasma cell disorder — and managing organ damage. Because this condition is very rare, treatment is often guided by specialists in amyloidosis and blood disorders. Early diagnosis is important to protect organ function.
Also known as:
Key symptoms:
Swelling in the legs, ankles, or around the eyesExtreme tiredness or fatigueKidney problems, including protein in the urine (foamy urine)Shortness of breathIrregular heartbeat or heart failure symptomsEnlarged liver or spleenUnintended weight lossNumbness or tingling in the hands or feetDiarrhea, constipation, or other digestive problemsLow blood pressure when standing up (dizziness on standing)
Clinical phenotype terms (8)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for AH amyloidosis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for AH amyloidosis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for AH amyloidosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 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
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to AH amyloidosis.
Community
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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 organs are affected in my case, and how severe is the damage so far?,What treatment do you recommend for my underlying plasma cell disorder, and what are the side effects?,Am I a candidate for stem cell transplant, and what would that process involve?,How will we monitor whether treatment is working and whether my organs are improving or stable?,Should I be seen at a specialized amyloidosis center, and can you refer me to one?,Are there any clinical trials I might be eligible for?,What dietary or lifestyle changes should I make to protect my kidneys and heart?
Common questions about AH amyloidosis
What is AH amyloidosis?
AH amyloidosis is a rare form of amyloidosis caused by the abnormal buildup of a protein called heavy chain immunoglobulin (specifically the heavy chain fragment, abbreviated 'AH') in tissues and organs throughout the body. Amyloidosis is a group of diseases where proteins fold into the wrong shape and clump together, forming deposits called amyloid fibrils. These deposits are like sticky plaques that build up inside organs and slowly damage them over time. In AH amyloidosis, the abnormal protein usually comes from a type of blood cell called a plasma cell, which is found in the bone marrow.
How is AH amyloidosis inherited?
AH amyloidosis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does AH amyloidosis typically begin?
Typical onset of AH amyloidosis is adult. Age of onset can vary across affected individuals.