Living with Multifocal fibrosclerosis
A rare condition in which scar-like tissue forms in different parts of the body, in varying combinations.
Understanding Multifocal fibrosclerosis
It can involve the tissue behind the belly (retroperitoneal fibrosis), the chest (mediastinal fibrosis), the bile ducts (sclerosing cholangitis), the thyroid (Riedel thyroiditis), and the eye socket (orbital pseudotumor). Some people have stiff, bent fingers. Spine and joint arthritis and camptodactyly may also occur.
Signs & symptoms
GARD doesn't list a set of most common symptoms for this condition. Its summary describes these features:
- Scar-like tissue behind the belly or in the chest
- Bile duct inflammation (sclerosing cholangitis)
- Thyroid inflammation (Riedel thyroiditis)
- Swelling in the eye socket
- Stiff, bent fingers
- Spine and joint arthritis
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
GARD says the condition appears to follow an autosomal recessive pattern of inheritance, which means a child inherits a changed copy of the gene from each parent. GARD does not name a gene.
Also known as: fibrosclerosis, multifocal; mediastinal fibrosis, familial; retroperitoneal fibrosis, familial
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 Multifocal fibrosclerosis.
Explore research for Multifocal fibrosclerosis
Explore actively recruiting Multifocal fibrosclerosis studies with HealthSpark.
Find actively recruiting studies for Multifocal fibrosclerosis 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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