Living with Hereditary arterial and articular multiple calcification syndrome
A rare adult-onset condition with calcium buildup in leg arteries and joints of the hands and feet.
Understanding Hereditary arterial and articular multiple calcification syndrome
Calcium builds up in the large vessels, mainly below the waist, and in the joints of the hands and feet. Symptoms can include slowly worsening pain and cramping in the calves, thighs, buttocks, feet, or hands. It begins in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Calcium buildup in arteries
- Blocked arteries (arterial occlusion)
- Pain and cramping in the legs and feet
- Pain in the hands
- Joint calcium buildup
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in NT5E are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the NT5E gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arterial calcification due to deficiency of cd73; calcification of joints and arteries; calja
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hereditary arterial and articular multiple calcification syndrome.
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