Living with Vascular hyalinosis
A rare inherited condition, starting in infancy, that affects small blood vessels in the gut, kidneys, and eyes.
Understanding Vascular hyalinosis
It is linked with calcium deposits in the brain. GARD lists severe diarrhea with rectal bleeding and poor absorption of food, kidney problems with high blood pressure, scarring in the back of the eye, and bleeding around the brain. Skin changes and early graying of the hair may also occur. Signs begin in infancy.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet, but its summary describes these:
- Severe diarrhea with rectal bleeding
- Trouble absorbing food (malabsorption)
- Kidney problems and high blood pressure
- Scarring in the back of the eye
- Bleeding around the brain
- Early graying of the hair
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists)
- 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
GARD says a child inherits a changed copy of a gene from each parent (autosomal recessive). It doesn't name the gene.
Also known as: rambaud-gallian syndrome; rambaud-gallian-touchard syndrome; retinal ischaemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome; retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
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 Vascular hyalinosis.
Explore research for Vascular hyalinosis
Explore actively recruiting Vascular hyalinosis studies with HealthSpark.
Find actively recruiting studies for Vascular hyalinosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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