DADA2 (Juvenil Polyarteritis Nodosa) 4.5/5 (2)

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DADA2
Livedo reticularis (marbling) at DADA2. Caorsi R, 2016. CC BY 4.0, DADA2 (Deficiency of adenosine deaminase 2). Previously: Juvenile Polyarteritis nodosa

Definition

DADA2 (Deficiency of adenosine deaminase 2, ADA2 deficiency) is a systemic vasculitis disease that starts in childhood, caused by an inherited (autosomal recessive) gene defect or mutation in the CECR1 gene on chromosome 22q11. This causes reduced production of the protein adenosine deaminase 2 which affects bone marrow cells. The disease was previously characterized as "Juvenile Polyarteritis nodosa” on the basis that several of the symptoms are similar to the otherwise adult-onset form. In 2014, however, the cause of the disease became known and the name was changed. The disease can now be classified as a autoinflammatory disease / periodic fever syndrome. The degree of severity is variable. Stroke in childhood can be the first symptom that leads to further investigation and diagnosis.

Occurrence

Rare disease with unknown incidence. Usually affects children under the age of ten. Presumably, current focus on the condition will lead to more people being diagnosed in the years ahead. The condition can occur among several relatives or by spontaneous mutation. It is possible that heterozygous forms occur and then with a later onset (in adulthood) and with milder symptoms.

Symptoms

General health status. Fever and muscle achesover a longer period of time can affect the general condition. Some have a generally reduced immune defense against infections.

The skin is often heavily marbled (marble pattern of tube-blue colour. Fingers may become cold and discolored fingers which may turn black with dead tissue / necrosis. Some develop knots (noduli) under the skin.

Nervous System. Stroke at a young age is caused by vasculitis (Vasculitis) and reduced blood flow in small blood vessels in the brain. Symptoms can be paralysis, uneven movements (ataxia), headaches, vision loss, language difficulties (aphasia), affected mental function.

Kidneys. Failure of blood supply (occlusion in renal arteries) has been described (NOTE! increasing blood pressure and reduced kidney function).

Examinations

Medical history maps symptoms and whether similar ones have been seen among relatives.

Clinical fever is measured and recorded several times a day over time (fever curve). Blood pressure and systematic examination of the skin, nerves and internal organs. An enlarged liver and spleen (hepatosplenomegaly) is not uncommon.

Blood tests measures signs of inflammation (CRP, SR(, kidney function. Some have low gamma globulin, low white and red blood cells and low platelet counts. "Lupus anticoagulant” can be seen.

Genetic testing (mutation in the CECR1 gene on chromosome 22q11)

Tissue sample (biopsy): Neutrophil cells and macrophages in the interstitium and perivascular T-lymphocytes. "Fibrinoid necrosis"

Similar conditions, differential diagnoses. Other vasculitic diseases (Polyarteritis nodosa). Sneddon syndrome (in adulthood). Antiphospholipid Syndrome (APLS). Leukemia

Treatment

Good response to Biological drug in the form of a TNF inhibitor (etanercept) in some. Autologous stem cell transplantation with effect is described. Recombinant ADA2 (gene therapy) is not available.

Prognosis

Good, assuming treatment response and the absence of serious complications from the immune system and internal organs.

Literature



Bindevevssykdommer.no

Vaskulitt.no

Revma Compendium

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