Living with Hyperimmunoglobulin D with periodic fever
An inherited inflammatory condition with repeating episodes of fever, joint pain, rash, and belly pain starting in infancy.
Understanding Hyperimmunoglobulin D with periodic fever
It is an auto-inflammatory disease, meaning the body causes inflammation without a clear trigger. People have periodic episodes of fever, often with joint pain, swollen lymph nodes, skin rash, headaches, and belly pain. Most episodes last several days and recur throughout life. Attacks may be set off by vaccines, infections, or stress. Growth and development are usually not affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fever that comes and goes
- Belly pain and diarrhea
- Joint pain and arthritis
- Swollen lymph nodes
- Skin rash or hives
- Recurrent canker sores
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 skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in MVK 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); Skin, hair, and nail specialists (dermatologists)
- 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 Jeffrey Modell 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
Changes in the MVK gene cause this condition and lead to a partial shortage of an enzyme called mevalonate kinase. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hids; hids - hyper-igd periodic fever syndrome; hyper igd syndrome; hyper-igd periodic fever syndrome; hyper-igd syndrome; hyper-immunoglobulin d periodic fever syndrome
Patient organizations
- Jeffrey Modell FoundationHyperimmunoglobulin D with periodic fever · United States
- The International Foundation for Autoimmune & Autoinflammatory ArthritisHyperimmunoglobulin D with periodic fever · 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 Hyperimmunoglobulin D with periodic fever.
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