Ravikumar Diviya Bharathi, Sivasubramanian Barath Prashanth, Thungala Shreya, Srinivasan Gopinath, Khader Abul Hasan Shadali Abdul, Qadeer Husna, Panchal Viraj, Venkata Vikram Samala
Department of Internal Medicine, ESIC MC and PGIMSR, Chennai, Tamil Nadu, India.
Department of Infectious Diseases, University of Texas Health, San Antonio, TX, USA.
Radiol Case Rep. 2024 Aug 6;19(10):4578-4582. doi: 10.1016/j.radcr.2024.07.028. eCollection 2024 Oct.
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present a rare case of a middle-aged woman who presented with chronic anemia and bone pain. About 31-year-old Southeast Asian female with a history of persistent iron deficiency anemia (6.1 gm/dL) presents with bilateral knee pain for 4 years. Autoimmune panel turned out to be negative. CT scan of the lower limbs showed multilamellated endosteal thickening specifically involving diaphyses with severe narrowing of medullary canal. PET CT scan revealed tubular remodeling, intramedullary ground glass matrix, and mild cortical thickening with increased FDG uptake in diaphyseal regions of femur and tibia. Bone marrow biopsy of left tibia revealed fibrocellular marrow with dyserythropoiesis. Considering the slow progression of illness over 4 years and radiological evidence suggestive of bone remodeling with severe narrowing of medullary canal as the cause of anemia, the patient underwent molecular analysis for GHDD. Results revealed homozygous p.Arg412Gln (exon 11) in TBXAS1 gene. Considering the effect of NSAIDs on cyclooxygenase and its downstream metabolites, oral Aspirin 150 mg/day was initiated. Hemoglobin improved to 11 gm/dL at 3-month follow-up visit. The complexity of reaching a diagnosis of GHDD underscores the importance of maintaining a high clinical suspicion and thorough analysis of radiological evidence. The treatment for GHDD involves aspirin, a readily available drug.
戈萨尔骨干部造血发育不良（GHDD）是一种罕见的常染色体隐性疾病，其特征是长骨干骺端骨密度增加和造血功能缺陷。它是由TBXAS1（OMIM*274180）基因的双等位基因变异引起的，该基因编码血栓素合酶。我们报告了一例罕见的中年女性病例，该患者表现为慢性贫血和骨痛。一名约31岁有持续性缺铁性贫血病史（血红蛋白6.1克/分升）的东南亚女性，双侧膝关节疼痛4年。自身免疫检查结果为阴性。下肢CT扫描显示多层骨内膜增厚，特别是累及干骺端，髓腔严重狭窄。PET CT扫描显示管状重塑、髓内磨玻璃样基质以及股骨和胫骨干骺端区域皮质轻度增厚伴FDG摄取增加。左胫骨骨髓活检显示纤维细胞性骨髓伴红细胞生成异常。考虑到疾病在4年中的缓慢进展以及影像学证据提示骨重塑和髓腔严重狭窄是贫血的原因，该患者接受了GHDD的分子分析。结果显示TBXAS1基因存在纯合的p.Arg412Gln（第11外显子）变异。考虑到非甾体抗炎药对环氧化酶及其下游代谢产物的影响，开始每天口服150毫克阿司匹林。在3个月的随访中，血红蛋白升至11克/分升。做出GHDD诊断的复杂性凸显了保持高度临床怀疑和对影像学证据进行全面分析的重要性。GHDD的治疗包括使用阿司匹林这种容易获得的药物。
