Hyperimmunoglobulin D syndrome: Management
- Yoram C Padeh, MD
Yoram C Padeh, MD
- Instructor in Clinical Medicine
- Mount Sinai Medical Center
- Arye Rubinstein, MD
Arye Rubinstein, MD
- Professor of Pediatrics Microbiology and Immunology
- Albert Einstein College of Medicine and Montefiore Hospital Medical Center
Hyperimmunoglobulin D syndrome (HIDS, MIM #260920) is a rare genetic disorder characterized by recurrent febrile episodes typically associated with lymphadenopathy, abdominal pain, and an elevated serum polyclonal immunoglobulin D (IgD) level. Recurrent fever that is not due to infection is a clinical feature of several disorders that are collectively referred to as autoinflammatory diseases. HIDS is one of the major periodic fever syndromes, which is a subset of autoinflammatory diseases. An overview of periodic and recurrent fevers and other autoinflammatory diseases is presented separately. (See "Periodic fever syndromes and other autoinflammatory diseases: An overview".)
The management of HIDS is reviewed here. The pathophysiology, clinical features, and diagnosis of HIDS are reviewed in detail separately. (See "Hyperimmunoglobulin D syndrome: Pathophysiology" and "Hyperimmunoglobulin D syndrome: Clinical manifestations and diagnosis".)
COURSE AND PROGNOSIS
In general, patients with HIDS have a normal lifespan and rarely suffer any serious physical complications of the disease, with the one uncommon exception of AA amyloidosis [1,2]. However, the attacks may have a significant negative impact on quality of life (QoL), particularly if the episodes are more frequent and severe . Social functioning, general health perception, vitality, autonomy, and social development were the QoL areas most impacted in one study. The periodic fever attacks are usually lifelong, although the frequency of attacks appears to decrease with age, and there are a few case reports of patients going into remission after therapy. (See "Pathogenesis of AA amyloidosis" and "Causes and diagnosis of secondary (AA) amyloidosis and relation to rheumatic diseases" and "Treatment of secondary (AA) amyloidosis".)
GOALS OF MANAGEMENT
The goal of treatment is to alleviate the immediate symptoms for the purpose of improving quality of life (QoL) and avoiding unnecessary therapies. Amyloidosis, the one serious potential complication, is quite rare. The drugs used to control symptoms also ameliorate inflammation and may mitigate some of the long-term effects of inflammation, such as the development of amyloidosis. Curative treatments that are sufficiently low risk are lacking. Interventions that prevent the febrile episodes are available but are associated with a higher risk of adverse events and are therefore reserved for patients who develop amyloidosis. (See "Hyperimmunoglobulin D syndrome: Clinical manifestations and diagnosis".)
Alleviate symptoms — Symptomatic treatment of the fever and associated symptoms is one of the main focuses of management since the disease primarily affects QoL and rarely leads to severe physical complications. (See 'Symptomatic treatment' below.)
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- COURSE AND PROGNOSIS
- GOALS OF MANAGEMENT
- Alleviate symptoms
- Avoid unnecessary surgery
- Avoid unnecessary antibiotics
- PATIENT EDUCATION
- OUR APPROACH
- SYMPTOMATIC TREATMENT
- First-line therapy
- Patients refractory to NSAIDs
- - Oral glucocorticoids
- - Anti-IL-1 therapy
- PREVENTIVE TREATMENT
- TNF inhibition
- IL-1 inhibition
- IL-6 inhibition
- THERAPIES THAT ARE NOT RECOMMENDED
- Intravenous immune globulin
- Hematopoietic cell transplanation
- SUMMARY AND RECOMMENDATIONS