Overview
Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is an extremely rare genetic condition in which calcium builds up abnormally in the walls of arteries (blood vessels) and in the joints. This calcium buildup, called calcification, can stiffen the arteries and damage the joints over time. The condition is sometimes grouped with or related to generalized arterial calcification of infancy (GACI), though it can present with a broader range of features including joint involvement. The arterial calcification can lead to narrowing and hardening of blood vessels, which may cause high blood pressure, poor blood flow to organs, and in severe cases, heart failure. Joint calcification can cause stiffness, pain, and reduced range of motion. Symptoms can appear in infancy or early childhood, though the age of onset and severity can vary. Some patients may also develop skin and soft tissue calcification. There is currently no cure for this condition. Treatment focuses on managing symptoms and complications. This may include medications to control blood pressure, bisphosphonates (drugs that may help slow calcification), and physical therapy to maintain joint mobility. Regular monitoring by a team of specialists is essential. Because the disease is so rare, much of the treatment approach is based on experience with related calcification disorders rather than large clinical trials.
Also known as:
Key symptoms:
Hardening and stiffening of arteriesCalcium deposits in blood vessel wallsJoint stiffness and painCalcium buildup in and around jointsHigh blood pressurePoor blood circulationHeart failure in severe casesReduced range of motion in jointsShortness of breathFatigue and low energySwelling in the legs or feetSkin calcification or hard lumps under the skin
Clinical phenotype terms (7)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Hereditary arterial and articular multiple calcification syndrome.
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Rare Disease Specialist
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 Hereditary arterial and articular multiple calcification syndrome.
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the calcification in my (or my child's) arteries and joints right now?,Would bisphosphonate therapy be appropriate, and what are the risks and benefits?,How often should we have imaging and heart function tests?,Are there any clinical trials or new treatments being studied for this condition?,What physical activities are safe, and should we work with a physical therapist?,Should other family members be tested for this genetic condition?,What emergency warning signs should I watch for at home?
Common questions about Hereditary arterial and articular multiple calcification syndrome
What is Hereditary arterial and articular multiple calcification syndrome?
Hereditary arterial and articular multiple calcification syndrome (HAAMCS) is an extremely rare genetic condition in which calcium builds up abnormally in the walls of arteries (blood vessels) and in the joints. This calcium buildup, called calcification, can stiffen the arteries and damage the joints over time. The condition is sometimes grouped with or related to generalized arterial calcification of infancy (GACI), though it can present with a broader range of features including joint involvement. The arterial calcification can lead to narrowing and hardening of blood vessels, which may ca
How is Hereditary arterial and articular multiple calcification syndrome inherited?
Hereditary arterial and articular multiple calcification syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat Hereditary arterial and articular multiple calcification syndrome?
1 specialists and care centers treating Hereditary arterial and articular multiple calcification syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.