Giant Cell Arteritis-Myelodysplastic Subtype (GCA-MDS)

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 by M. Tariq Bhatti, MD on June 20, 2022.


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Disease Entity

Giant Cell Arteritis-Myelodysplastic Subtype (GCA-MDS)

Disease

Giant cell arteritis (GCA) is the most common primary medium to large vessel vasculitis of the elderly. GCA is characterized by a granulomatous, inflammatory pathology of medium to large blood vessels and the most dread complication is visual loss. Patients with GCA typically lose vision due to arteritic anterior ischemic optic neuropathy (AAION) but may also have posterior ischemic optic neuropathy (PION), central retinal artery occlusion (CRAO), cilioretinal artery occlusion, choroidal perfusion defects, or ocular ischemic syndrome.[1] Myelodysplastic syndrome (MDS) is a type of hematologic malignancy characterized by clonal and ineffective hematopoiesis, morphological dysplasia, peripheral blood cytopenia, and progressive bone marrow failure. Up to 30 % of MDS may transform however into acute myeloid leukemia (AML).[2] GCA in patients with underlying MDS has been reported in the literature as a potential GCA subtype (GCA-MDS). In the largest series of GCA-MDS, a 2019 French multicenter study described 21 cases.[3]

Patients with MDS are at an increased risk of developing autoimmune diseases (10-20%), including vasculitis (GCA), connective tissue diseases, inflammatory arthritis, and neutrophilic diseases. [4] Furthermore, there is evidence that GCA in patients with MDS presents with a different clinical course and response to treatment than typical GCA. Therefore, the development of GCA in MDS may be linked, suggesting that GCA-MDS may be a subtype.

Diagnosis

History

A thorough history should be performed to screen any elderly patient with eye complaints (including those with MDS) for symptoms and signs of GCA (e.g., headache, jaw claudication, temporal tenderness, fever, malaise, or fatigue).[5]

Physical examination

Complete ocular examinations and patients with visual loss should undergo assessments of visual acuity, pupillary function including relative afferent pupillary defect, automated perimetry, slit lamp biomicroscopy, intraocular pressure, extraocular motility, and ophthalmoscopy. External exam should assess for temporal artery abnormalities (e.g., tenderness, nodularity).

Symptoms

Patients with GCA-MDS may have a lower prevalence of the classical symptoms of GCA such as headaches, jaw claudication, and AAION.[3] However, many patients still present with signs of GCA such as acute, painless monocular vision loss, jaw claudication, etc.

Diagnostic procedures

Optical coherence tomography (OCT) can assess the retinal nerve fiber layer and macular ganglion cell layer in patients with suspected visual loss from GCA. Fluorescein angiography may be helpful to evaluate for retinal and choroidal perfusion defects.

The temporal artery biopsy is the gold standard for diagnosis of GCA but increasingly the use of temporal artery ultrasound has been used in the evaluation of GCA.

Management

Medical therapy

The standard of care for initial treatment of GCA is corticosteroids (intravenous in the setting of visual loss). However, the addition of hypomethylating agents azacitidine or decitabine may prove beneficial in some GCA-MDS cases. A study of MDS patients with autoimmune diseases including GCA treated with azacitidine showed improved clinical symptoms and reduction in steroid dependence.[[6]] A current prospective study is underway (Clinical Trials NCT02985190).

Complications

The clinical course of GCA-MDS patients is associated with increased steroid dependence and decreased steroid free and relapse free survival. Patients must be closely monitored for changes in symptoms and visual acuity. Visual fields should be regularly performed to detect early changes.

Prognosis

The development of autoimmune disorders in patients with GCA-MDS is not believed to be associated with worse survival.[5] However, GCA-MDS patients are more likely to develop steroid dependence and decreased steroid free and relapse free survival.[3]

Summary

The co-existence of GCA and MDS may be a subtype of GCA (GCA-MDS). Patients with either condition (GCA or MDS) may have symptoms or signs of the other disorder and in such cases, multidisciplinary care may be helpful. Regardless of whether the two disorders are causally related or merely associated co-morbidities, the treatment and prognosis of GCA-MDS may be different than GCA alone.

References

  1. Dejaco C, Brouwer E, Mason J, Buttgereit F, Matteson E, Dasgupta B. Giant Cell Arteritis and Polymyalgia Rheumatica – current challenges and opportunities. Nat Rev Rheumatology. 2017;13(10):578-592. Online journal
  2. Santini V. Treatment of low-risk myelodysplastic syndromes. Hematology Am Soc Hematol Educ Program. 2016;2016(1):462-469. Online journal
  3. 3.0 3.1 3.2 Roupie A, Boysson H, Thietart S, Carrat F, Seguier J, Terriou L, Versini M, Queyrel V, Groh M, Benhamou Y, Maurier F, Decaux O, d'Aveni M, Rossignol J, Galland J, Solary E, Willems L, Schleinitz N, Ades L, Dellal A, Samson M, Aouba A, Fenaux P, Fain O, Mekinian A. Giant-cell arteritis associated with myelodysplastic syndrome: French multicenter case control study and literature review. Autoimmunity Reviews. 2020;19(2):102446. Online journal
  4. Grignano E, Jachiet V, Fenaux P, Ades L, Fain O, Mekinian A. Autoimmune manifestations associated with myelodysplastic syndromes. Ann Hematol. 2018;97(11):2015-2023. Online journal
  5. 5.0 5.1 Zenone T, Puget M. Dry cough is a frequent manifestation of giant cell arteritis. Rheumatol Int. 2013;33(8):2165-2168. Online journal
  6. Baig I, Pascoe A, Kini A, Lee A. Giant cell arteritis: early diagnosis is key. Eye brain. 2019;11:1-12. Online journal
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