McCune–Albright syndrome‐associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia

Mahdi, Ali Jassem; Connor, Phillip; Thakur, Indu

doi:10.1111/bjh.14690

Cited by 5 publications

(5 citation statements)

References 2 publications

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Section: Other Manifestationsmentioning

confidence: 99%

“…Bone marrow failure with pancytopenia and extramedullary hematopoiesis have been rarely reported in patients with severe FD [66, 67]. The etiology is not well-established but may be related to reduced marrow capacity in conjunction with splenic sequestration, and patients have clinically improved after splenectomy [66, 67]. Platelet dysfunction has also been reported in association with MAS [68], which together with the hypervascularity of FD lesions may contribute to blood loss with orthopedic procedures.…”

Section: Other Manifestationsmentioning

confidence: 99%

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The Clinical Spectrum of McCune-Albright Syndrome and Its Management

et al. 2019

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McCune-Albright syndrome (MAS) is a rare, mosaic disorder presenting along a broad clinical spectrum. Disease arises from somatic-activating GNAS mutations, leading to constitutive Gα s activation and ligand-independent signaling of the Gα s-coupled protein receptor. The phenotype is largely determined by location and extent of tissues in which the GNAS mutation is expressed, as well as the pathophysiologic effects of Gα s activation within these tissues. Patients present clinically with a variable combination of fibrous dysplasia of bone (FD), café-au-lait skin macules, and hyperfunctioning endocrinopathies. In bone, Gα s leads to impaired differentiation of skeletal stem cells and formation of discrete, expansile FD lesions, resulting in fractures, pain, and functional impairment. A systematic approach to diagnosis and management is critically important to optimize outcomes for patients with FD/MAS. There are no medical therapies capable of altering the disease course in FD; however, screening and treatment for endocrinopathies can mitigate some skeletal morbidities. This review summarizes current understanding of MAS pathophysiology, describes the spectrum of clinical features, and includes a detailed discussion of the recommended approach to diagnosis and management.

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Section: Other Manifestationsmentioning

confidence: 99%

Section: Other Manifestationsmentioning

confidence: 99%

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

et al. 2019

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“…BM composed of haematopoietic stem cells (HSC) secondary to fibro-osseous cartilage invasion has been reported in long-standing FD, characterized clinically by anaemia, thrombocytopenia, or pancytopenia [6, 7]. In addition, a platelet pool storage defect has been identified in some patients with MAS, possibly caused by constitutive activation of G protein-coupled receptors in the cell membrane of platelets, leading to intracellular increase in cAMP and inhibition of platelet aggregation [8].…”

Section: Discussionmentioning

confidence: 99%

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance

2020

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Introduction: McCune-Albright syndrome (MAS) is a rare condition, in which GNAS mutations affect multiple organs. Fibrous dysplasia (FD), affecting only one or multiple skeletal territories, may severely affect craniofacial structures. Concomitant occurrence of acromegaly aggravates skull deformity, leading to eye, ear, and posterior cranial fossa compromise. Case Presentation: A 30-year-old man diagnosed with MAS at the age of 3 developed almost all known complications of the syndrome. The craniofacial component of his polyostotic FD increased over time, aggravated by difficult to control acromegaly. Acute onset of severe headache and neurologic compromise, caused by subarachnoid haemorrhage, caused his demise. Post-mortem examination revealed a meningeal artery aneurysm caused by disruption of the intracranial vasculature by severe bone disease. Adrenal histology revealed nodular hyperplasia without clinical evidence of hypercortisolism. Discussion: The post-mortem findings described aid understanding of the multiorgan involvement of MAS, providing new insights into possible pathogenetic mechanisms underlying the systemic effects of GNAS mutations, and highlight a need for systematic surveillance for cerebrovascular changes in craniofacial FD that may be amenable to intervention to avoid catastrophic outcome.

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“…Bone marrow is replaced by fibro-osseous tissue, yet bone marrow failure is not commonly associated with FD/MAS. An interesting case of marrow fibrosis with extramedullary hematopoiesis (EMH) in MAS was very recently reported as an image [2]. We report the first detailed case of an adolescent girl with FD/MAS, who developed pancytopenia and EMH in association with uncontrolled endocrinopathies.…”

Section: Introductionmentioning

confidence: 89%

Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome

et al. 2017

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In fibrous dysplasia/McCune-Albright syndrome (FD/MAS), bone and bone marrow are, to varying degrees, replaced by fibro-osseous tissue typically devoid of hematopoietic marrow. Despite the extensive marrow replacement in severely affected patients, bone marrow failure is not commonly associated with FD/MAS. We present a 14-year-old girl with FD/MAS, who developed pancytopenia and extramedullary hematopoiesis (EMH) with no identified cause, in the setting of iatrogenic thyrotoxicosis and hyperparathyroidism. Pancytopenia, requiring monthly blood transfusions, persisted despite multiple strategies to correct these endocrinopathies. Due to worsening painful splenomegaly, likely as a result of sequestration, splenectomy was performed. Following splenectomy, pancytopenia resolved and patient has since been transfusion-independent. We report the first detailed case of bone marrow failure and EMH in FD/MAS. The etiology of marrow failure is likely multifactorial and related to the loss of marrow reserve due to extensive polyostotic FD, exacerbated by iatrogenic thyrotoxicosis and hyperparathyroidism. Mini Abstract: A patient with fibrous dysplasia developed bone marrow failure and extramedullary hematopoiesis. The etiology likely involved loss of hematopoetic marrow space and uncontrolled endocrinopathies. Splenectomy was therapeutic.

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McCune–Albright syndrome‐associated bone marrow failure and extramedullary haematopoeisis secondary to fibrous dysplasia

Cited by 5 publications

References 2 publications

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

The Clinical Spectrum of McCune-Albright Syndrome and Its Management

Severe Fibrous Dysplasia in McCune-Albright Syndrome: A Need for Continuous Surveillance

Bone marrow failure and extramedullary hematopoiesis in McCune-Albright syndrome

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