Mevalonate Kinase Deficiency-mild/moderate, Hyperimmunoglobulinemia D with Periodic Fever Syndrome
MKD-mild/moderate (aka HIDS)
Mevalonate Kinase Deficiency (MKD)
Autosomal recessive. Some cases with only one mutation found. 
Mostly of Dutch descent, or Northern European. 
Unknown, but very rare. >200-300 known patients worldwide, (>300, when suspected cases are also included.) 
Age of onset:
>90% present with symptoms in infancy. 
Diffuse maculopapular rash. Polymorphous rashes. Some with petechiae or purpura present. ,  50% with apthous ulcers or genital ulcers.  Porokeratosis of Mibelli in one patient, and disseminated superficial actinic porokeratosis (DSAP) in a few cases of patients of Asian ancestry. 
Extreme pain, vomiting and diarrhea with flares. ,  A few cases with colitis, including early-onset, and sometimes severe colitis in the neonatal period, with bloody diarrhea. . Some with hepatomegaly, splenomegaly, hepatosplenomegaly, or other gastrointestinal issues. 
Joints bones muscles cartilage:
Arthralgias are common, symmetric polyarthritis is frequently noted. 
Cutaneous vasculitis is common. Henoch-Schönlein purpura (HSP) is rare. 
<5-10% – uncommon. 
High: ESR, CRP, SAA with flares. Mevalonate aciduria noted during flares.  High IgD with IgA in 80% patients. IgD may be normal in infants and young children with HIDS. Note that there are other conditions where IgD may sometimes be elevated, (see also FMF, TRAPS, PFAPA on our chart) so this is not considered the most accurate diagnostic lab for MVK diseases.
Hyperimmunoglobulinemia D, hyper IgD, IgA, HIDS, mevalonate kinase, mevalonate kinase deficiency, amyloidosis, SAA, MVK, apthous ulcers, periodic fever, hereditary periodic fever, vomiting, fever, diarrhea, mouth sores, recurrent fever, vaccine-triggered flares, vaccine-triggered, vaccine-induced, vaccine induced, conjunctivitis, genital ulcers, oral ulcers, maculopapular rash, polymorphous rashes, petechiae, purpura, respiratory infections, S. pneumoniae, hepatomegaly, splenomegaly, hepatosplenomegaly, lymphadenopathy, arthralgias, polyarthritis, Henoch-Schönlein purpura, HSP, cutaneous vasculitis, vasculitis, mevalonate aciduria, Elevated IgD, IgD, mouth ulcers, vaccines, immunization, rashes, rash, joint pain, joint swelling, abdominal pain, stomach pain, enlarged liver, enlarged spleen, rash, mevalonate aciduria, cervical lymphadenopathy, leg pain, enlarged liver, enlarged spleen, large liver, large spleen, enlarged liver and spleen, large liver and spleen, pain, pneumonia, pulmonary, respiratory, vaccine, vaccines, vaccinated, inflammatory bowel disease, amyloid, retinitis pigmentosa, RP, Porokeratosis of Mibelli, disseminated superficial actinic porokeratosis, DSAP, porokeratosis, colitis, IBD, early onset colitis, bloody diarrhea, early onset colitis, lymph, lymphadenopathy, lymph node
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Here is a helpful video overview about MKD/HIDS by Dr Anna Simon, the leading expert on MKD/HIDS at the 2nd NIH-WRNMMC Symposium on Autoinflammatory and Immunedysregulatory Diseases that the Autoinflammatory Alliance co-sponsored and helped to organize in August 2019:
Visit our blog for a more detailed discussion on HIDS, along with references at saidsupport.org HIDS info
Compare HIDS to PFAPA, a different autoinflammatory disease on our saidsupport.org blog.
Collection of medical articles and information about HIDS on our blog at saidsupport.org
Find periodic fever syndrome panels, which test for HIDS and syndromes with similar symptoms at the same time, at the Genetic Testing Registry (GTR).
Our Autoinflammatory Alliance website HIDS page at autoinflammatory.org
Updated February 2020 by Karen Durrant RN, BSN