Living with Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
A genetic condition (HANAC syndrome) with fragile blood vessels that can affect the kidneys, brain, muscles, and eyes.
Understanding Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
It is part of the COL4A1-related disorders. Blood vessels and their supporting layers are weaker and break more easily. Kidney problems include blood in the urine and kidney cysts that may grow over time. Brain blood vessel bulges (aneurysms) can occur but typically do not burst. Muscle cramps usually begin in early childhood. Eye problems can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Kidney cysts
- Muscle cramps and spasms
- Twisting of small blood vessels in the retina
- Blood in the urine
- Reduced kidney function
- Bulges in brain blood vessels (aneurysms)
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 brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in COL4A1 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
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 National Kidney 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
GARD says changes in the COL4A1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures; hanac; hanac - hereditary angiopathy with nephropathy, aneurysms, and muscle cramps; hanac syndrome; hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome.
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