Living with Familial amyloid nephropathy with urticaria AND deafness
An inherited inflammation condition (Muckle-Wells syndrome) with fevers, rash, joint pain, and hearing loss.
Understanding Familial amyloid nephropathy with urticaria AND deafness
People have repeated episodes of fever, skin rash, joint pain, belly pain, and pink eye. Hearing loss that worsens over time (sensorineural deafness) and amyloidosis, a protein build-up that can affect the kidneys, can occur. It begins from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hives (urticaria)
- Joint pain
- Belly pain
- Pink eye (conjunctivitis)
- Hearing loss that worsens over time
- Kidney problems from amyloid build-up
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, allergy and immune system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in NLRP3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 The International Foundation for Autoimmune & Autoinflammatory Arthritis 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
Changes in the NLRP3 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: amyloid nephropathy with deafness and urticaria; cryopyrin-associated periodic syndrome 2; muckle-wells syndrome; muckle-wells type amyloidosis; mws; neutrophilic urticaria
Patient organizations
- The International Foundation for Autoimmune & Autoinflammatory ArthritisFamilial amyloid nephropathy with urticaria AND deafness · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial amyloid nephropathy with urticaria AND deafness.
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