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PubMed This is a summary of 9 peer-reviewed journal articles Updated
Neurology

What Organs Does Aicardi-Goutières Syndrome (AGS) Affect?

At a Glance

Aicardi-Goutières syndrome (AGS) is a systemic disorder that causes widespread inflammation. Beyond the brain, it can lead to hypothyroidism, elevated liver enzymes, and narrowed blood vessels. Regular monitoring with blood tests and imaging is crucial.

Yes, while Aicardi-Goutières syndrome (AGS) is best known for its effects on the brain and skin, it is a systemic disorder that can impact multiple organ systems throughout the body. Because AGS is a type I interferonopathy (a condition where the immune system produces too much of an inflammatory protein called interferon), this widespread inflammation can cause damage far beyond the central nervous system [1][2].

Understanding these extra-neurological (outside the brain) risks helps individuals with AGS and their care teams know exactly what to monitor over time.

Thyroid and Endocrine System

Individuals with AGS can develop endocrine abnormalities, most notably hypothyroidism (an underactive thyroid gland) [3]. (Other issues, such as diabetes insipidus, have also been observed [3]). These conditions do not always appear when the disease first begins; they can present years after the primary neurological symptoms emerge [3].

Because hypothyroidism can develop later and may sometimes resolve on its own, regular screening of thyroid hormone levels is important [3]. Between appointments, patients and caregivers should watch for physical signs of an underactive thyroid, which can include extreme fatigue, unexplained weight gain, or an unusual sensitivity to cold.

Liver Dysfunction

The overactive immune system in AGS can also stress the liver. Routine blood tests may reveal transient (temporary) elevations in liver enzymes [4][2]. Elevated liver enzymes are early markers of inflammation that often do not cause noticeable physical symptoms at first, making regular lab work essential. Additionally, some individuals develop liver-associated autoantibodies, meaning the misdirected immune system produces proteins that target the liver’s own tissues [4].

Blood Vessels and Moyamoya Disease

A critical systemic risk involves the blood vessels, specifically the arteries supplying blood to the brain. Some patients develop a progressive narrowing of these large intracranial arteries, a condition resembling Moyamoya disease [5][6]. This narrowing restricts blood flow and can increase the risk of strokes or transient ischemic attacks (mini-strokes).

This vascular complication is most strongly linked to individuals who have AGS caused by mutations in the SAMHD1 gene [5][6]. Because these arterial changes can be asymptomatic or under-reported initially, specialists advise screening for these vascular anomalies during brain MRIs, even before a specific genetic diagnosis is confirmed [7]. Knowing your specific genetic mutation can help you and your doctor anticipate this risk.

What This Means for Monitoring

Because AGS affects the body systemically, care requires a proactive, multidisciplinary approach. In addition to monitoring brain health and skin issues (like chilblains), individuals with AGS should have a monitoring plan that includes:

  • Routine blood tests: Regular checks of liver enzymes and thyroid function (such as TSH and Free T4) to catch inflammation or hormone changes early [4][3].
  • Vascular imaging: Scans of the brain’s blood vessels (such as an MRA), especially if the SAMHD1 gene mutation is present [7][5].
  • Symptom tracking: Ongoing evaluations for signs of broader systemic autoimmunity, such as persistent joint pain or unexplained gastrointestinal symptoms [8][9].

Common questions in this guide

Can Aicardi-Goutières syndrome affect the thyroid?
Yes, individuals with AGS can develop endocrine issues like hypothyroidism. Because this can appear years after the initial neurological symptoms, regular screening of thyroid hormone levels is important for early detection and treatment.
How does Aicardi-Goutières syndrome affect the liver?
The systemic inflammation caused by AGS can stress the liver, leading to transiently elevated liver enzymes. Routine blood work is necessary to catch these early markers of inflammation, which often do not cause physical symptoms at first.
What is the risk of Moyamoya disease in AGS patients?
Some AGS patients, especially those with a SAMHD1 gene mutation, can develop a progressive narrowing of the blood vessels in the brain similar to Moyamoya disease. This narrowing restricts blood flow and increases the risk of strokes or mini-strokes.
How often should someone with AGS have routine blood tests?
The frequency of blood tests should be determined by your doctor, but they are crucial for tracking your liver enzymes and thyroid function. Regular checks help your medical team catch systemic inflammation and hormone changes before they cause severe symptoms.
Do I need an MRI or MRA to check my blood vessels if I have AGS?
Specialists often advise screening the brain's blood vessels using MRA or CTA imaging. This is particularly important for individuals with a SAMHD1 gene mutation, as they are at a higher risk for vascular complications and restricted blood flow to the brain.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How frequently should we schedule routine blood tests to monitor liver enzymes and thyroid function?
  2. 2.Based on my specific genetic testing results (such as the presence of a SAMHD1 mutation), do I need an MRA or CTA to check the blood vessels in my brain?
  3. 3.What specific neurological warning signs or stroke symptoms should I be watching for at home to ensure early intervention?
  4. 4.Should I be referred to an endocrinologist or a hepatologist now to establish baseline health, or only if my blood work shows abnormalities?
  5. 5.Who on my medical team will take the lead in coordinating my care across different organ specialists?

Questions For You

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Related questions

What Do Aicardi-Goutières Syndrome Chilblains Look Like?Why is a Fever a Medical Emergency on JAK Inhibitors?What is the Aicardi-Goutières Syndrome Life Expectancy?Why is Aicardi-Goutières Misdiagnosed as Cerebral Palsy?Does Aicardi-Goutières Syndrome Get Worse Over Time?Is Aicardi-Goutières Syndrome Caused by a Virus?Will Our Next Child Have Aicardi-Goutières Syndrome?What Happens If You Miss a JAK Inhibitor Dose for AGS?What Is the Interferon Signature Test for AGS?

References

References (9)
  1. 1

    Aicardi-Goutières syndrome: A monogenic type I interferonopathy.

    Liu A, Ying S

    Scandinavian journal of immunology 2023; (98(4)):e13314 doi:10.1111/sji.13314.

    PMID: 37515439
  2. 2

    Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.

    Dell'Isola GB, Dini G, Culpepper KL, et al.

    World journal of pediatrics : WJP 2023; (19(7)):635-643 doi:10.1007/s12519-022-00679-2.

    PMID: 36650407
  3. 3

    Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.

    Worth C, Briggs TA, Padidela R, et al.

    Clinical case reports 2020; (8(11)):2181-2185 doi:10.1002/ccr3.3081.

    PMID: 33235754
  4. 4

    Hepatic Involvement in Aicardi-Goutières Syndrome.

    Gavazzi F, Cross ZM, Woidill S, et al.

    Neuropediatrics 2021; (52(6)):441-447 doi:10.1055/s-0040-1722673.

    PMID: 33445189
  5. 5

    Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.

    Wu CC, Peng SS, Lee WT

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(11)):3353-3356 doi:10.1007/s10072-020-04516-0.

    PMID: 32524323
  6. 6

    Tocilizumab reverses cerebral vasculopathy in a patient with homozygous SAMHD1 mutation.

    Henrickson M, Wang H

    Clinical rheumatology 2017; (36(6)):1445-1451 doi:10.1007/s10067-017-3600-2.

    PMID: 28289923
  7. 7

    Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.

    Le Floch K, Barillon J, Bonanno MC, et al.

    Pediatric radiology 2025; (55(7)):1537-1541 doi:10.1007/s00247-025-06268-5.

    PMID: 40442339
  8. 8

    Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.

    Samanta D, Ramakrishnaiah R, Crary SE, et al.

    Pediatric neurology 2019; (96()):37-39 doi:10.1016/j.pediatrneurol.2019.01.017.

    PMID: 30898416
  9. 9

    Case Report: Generalised Panniculitis as a Post-COVID-19 Presentation in Aicardi-Goutières Syndrome Treated With Ruxolitinib.

    Pararajasingam A, Bradley RE, Evans J, et al.

    Frontiers in pediatrics 2022; (10()):837568 doi:10.3389/fped.2022.837568.

    PMID: 35547545

This page explains systemic organ involvement in Aicardi-Goutières syndrome for informational purposes only. It does not replace professional medical advice, and you should always consult your healthcare provider to establish a personalized screening and monitoring plan.

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