- Hyperimmunoglobulinemia D with periodic fever syndrome.

Hyperimmunoglobulinemia D with periodic fever syndrome (HIDS)

/ Mevalonate kinase deficiency (MKD)

INCIDENCE/AETIOLOGY

MKD/HIDS is extremely rare. Most patients are North European, many in Holland (it was called ‘Dutch fever’), but can occur in other ethnicities.

The disease is caused by mutations of MVK, a gene located on the long arm of chromosome 12 that encodes mevalonate kinase (MK).

CLINICAL PRESENTATION

• Onset of MKD/HIDS within the 1st 6 mo of life.
• Children experience irregular attacks that may be precipitated by vaccination, minor trauma, surgery or stress.
• Attacks last 4–7 days.
•  Fever, unilateral or bilateral cervical lymphadenopathy, abdominal pain with vomiting and diarrhea, headache, arthralgia, large joint arthritis, erythematous macules and papules and aphthous ulcers are common.
• A history of high fevers or a full attack with vaccination is often obtained

DIAGNOSIS:

• High serum IgD, IgE and IgA (not sensitive nor specific).
• Presence of mevalonic acid in the urine during attacks.
•  Genetic confirmation.
•  During attacks, leukocytosis and increased serum levels of acute-phase reactants and proinflammatory cytokines are commonly present.

TREATMENT:-

• Few patients respond to colchicine.
• Milder disease may respond to NSAIDs.
• Corticosteroids are of limited utility.
•  Small trials of both etanercept and either intermittent or daily anakinra
• in HIDS are promising.

PROGNOSIS:

• Symptoms may partially improve with age.
• AA amyloidosis is seen, but is less common than in FMF,TRAPS or CAPS.

 Ibrahim Samaha

References:-

• Amanda K. Ombrello and Daniel L. Kastner , Hereditary Periodic Fever Syndromes and Other Systemic Autoinflammatory Diseases,Chapter 163,NELSON TEXTBOOK OF PEDIATRICS, TWENTIETH EDITION 2016
• Clarissa Pilkington, Kiran Nistala, Helen Lachman and Paul Brogan, Rheumatology , GREAT ORMOND STREET HANDBOOK OF PAEDIATRICS, 2nd  ed
• Osama Naga,Rheumatologic Disorders, Periodic Fever ,190-192 Pediatric Board Study Guide, A Last Minute Review
• Sujata Sawhney and Amita Aggarwal, Autoinflammatory Syndromes in Children, Pediatric Rheumatology,546-554 A Clinical Viewpoint,2017
• Ronald M. Laxer ,David D. Sherry  and Philip J. Hashkes,CH10 Autoinflammatory Syndromes,189-208 Pediatric Rheumatology in Clinical Practice,2nd ed 2016