Living with Autosomal recessive inherited pseudoxanthoma elasticum
An inherited condition in which calcium builds up in the skin, eyes, and blood vessels.
Understanding Autosomal recessive inherited pseudoxanthoma elasticum
Over time, calcium builds up where it should not and elastic fibers in the skin, retina, and blood vessel walls break into pieces. It can start at any time in life. Skin can look loose and wrinkled, and eye and blood vessel problems can develop.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, wrinkled skin that lacks elasticity
- Lines in the retina (angioid streaks)
- Bleeding in the retina
- Narrowed arteries
- Leg pain when walking (intermittent claudication)
- Easy bruising
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 autoimmune and inflammatory disease specialists, bone and joint specialists, brain and nervous system specialists and eye disease specialists.
- 3Consider genetic testing
Changes in ABCC6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Children's Cardiomyopathy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists)
- Expert care
- Expert lists: Children's Cardiomyopathy Foundation
- 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 Children's Cardiomyopathy Foundation and other patient organizations
- 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 ABCC6 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ar inherited pseudoxanthoma elasticum; gronblad-strandberg syndrome; gronblad-strandberg-touraine syndrome; pseudoxanthoma elasticum; pxe
Patient organizations
- Children's Cardiomyopathy FoundationCardiomyopathy · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive inherited pseudoxanthoma elasticum.
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