Living with Deficiency of mevalonate kinase
A genetic condition with repeated episodes of fever that start in infancy.
Understanding Deficiency of mevalonate kinase
Each fever lasts about 3 to 6 days. In childhood, episodes can happen as often as 25 times a year and become less frequent with age. There are two types: a less severe type called hyperimmunoglobulinemia D syndrome (HIDS) and a more severe type called mevalonic aciduria (MVA).
Signs & symptoms
Symptoms vary by type. GARD says people with HIDS typically have these during fever episodes:
- Recurrent fever
- Swollen lymph nodes
- Abdominal pain
- Joint pain
- Diarrhea
- Skin rashes and headache
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, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 genes cause this condition. It does not list a specific gene or inheritance pattern.
Also known as: mevalonate kinase deficiency; mkd
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Deficiency of mevalonate kinase.
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