Living with Hereditary hyperferritinemia with congenital cataracts
An inherited condition with high ferritin in the blood and clouding of the eye lenses from infancy.
Understanding Hereditary hyperferritinemia with congenital cataracts
The ferritin buildup starts early in life and leads to cataracts, usually in infancy rather than after age 60. Cataracts that are not removed cause vision to get dimmer and blurrier. The high ferritin does not usually cause other health problems, but it can be mistaken for liver disorders. People with this condition do not have extra iron, so repeated blood draws can lead to anemia.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Clouding of the eye lens (cataract)
- High ferritin level on blood tests
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in FTL 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
- Eye disease specialists (ophthalmologists); 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 FTL gene. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bonneau-beaumont syndrome; hereditary hyperferritinemia cataract syndrome; hereditary hyperferritinemia-cataract syndrome; hhcs; hyperferritinemia cataract syndrome; hyperferritinemia with or without cataract
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 hyperferritinemia with congenital cataracts.
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