Living with Hyperhomocysteinemia
Higher than normal levels of homocysteine in the blood, which may be linked to artery disease and blood clots.
Understanding Hyperhomocysteinemia
On its own, it may be linked to a higher risk of hardened arteries and repeated blood clots in arteries and veins, usually in the third or fourth decade of life. Raised homocysteine is also a feature of several inherited metabolic conditions, such as homocystinuria and MTHFR deficiency. It can also result from defects in vitamin B12 (cobalamin) use.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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
High homocysteine is a feature of several inherited metabolic conditions. These include homocystinuria (CBS gene), MTHFR deficiency (MTHFR gene), and defects in vitamin B12 use.
Also known as: homocysteinemia
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 Hyperhomocysteinemia.
Explore research for Hyperhomocysteinemia
Explore actively recruiting Hyperhomocysteinemia studies with HealthSpark.
Find actively recruiting studies for Hyperhomocysteinemia 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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