Severe Anemia Caused by Hereditary Hemorrhagic Telangiectasia in a Patient with Sjögren’s Syndrome and Primary Biliary Cirrhosis
A 63-year-old Chinese woman presented to West China Hospital with a history of dry eyes and mouth for 40 years and recurrent epistaxis for 2 years. She had been diagnosed with iron deficiency anemia (IDA) 9 years prior, and primary Sjögren’s syndrome (pSS) and primary biliary cirrhosis (PBC) 3 years ago. Over the past 3 years, she had been treated for severe IDA at West China Hospital, with repeated red blood cell suspensions and iron sucrose supplementation, but these interventions showed no significant improvement. Two years ago, a gastroscopy revealed telangiectasia in the antrum, and she underwent two argon plasma coagulations (APCs). She reported no abnormal family history.
On admission, physical examinations revealed tongue telangiectasia, dry eyes, and mouth. Dental caries were observed, and the skin and palpebral conjunctiva appeared pale. Laboratory tests confirmed microcytic hypochromic anemia, with elevated alkaline phosphatase, soluble transferrin receptor, and total iron-binding capacity. Conversely, serum iron, transferrin saturation, and ferritin levels were decreased. Fecal occult blood was positive. Immunological tests showed an antinuclear antibody titer of 1:1000, with positive anti-SS-related antigen A (SSA) antibody and anti-mitochondrial type 2 antibody (AMA-M2). Schirmer test results were 3 mm and 4 mm per 5 minutes in the left and right eyes, respectively. Other tests, including urine routine, glucose-6-phosphate dehydrogenase, Coombs test, and erythrocyte incubation osmotic fragility test, were normal.
Abdominal color Doppler ultrasound revealed cirrhosis, splenomegaly, ascites, abnormal hepatic veins, and extrahepatic portal vein thickening. Biliary color Doppler ultrasound showed no biliary tract stenosis. Bone marrow aspiration and biopsy indicated active erythroid hyperplasia with absent iron staining. Following these findings, gastrointestinal endoscopy and double-balloon enteroscopy were performed, revealing multiple telangiectasias in the antrum, jejunum, and colon. These findings led to the diagnosis of hereditary hemorrhagic telangiectasia (HHT) as the cause of her severe anemia.
The patient was treated with a small dosage of thalidomide (50 mg every night), which she tolerated well without significant side effects. Her anemia symptoms and laboratory results improved significantly, and the amount of iron supplementation required decreased during follow-up.
Primary Sjögren’s syndrome (pSS) is a chronic autoimmune inflammatory disorder characterized by dryness of the eyes and mouth. In this patient, the diagnosis of pSS was confirmed based on her symptoms lasting more than 3 months, positive Schirmer test, and positive anti-SSA antibody. Primary biliary cirrhosis (PBC) is an autoimmune disorder characterized by an ongoing immunologic attack on the intralobular bile ducts, which can eventually lead to cirrhosis and liver failure. Mild anemia is a common complication of pSS, while in PBC, anemia is often related to gastrointestinal variceal bleeding or hypersplenism caused by portal hypertension.
Hereditary hemorrhagic telangiectasia (HHT) is a rare hereditary disease characterized by abnormal vascular dysplasia, which can lead to severe and potentially life-threatening hemorrhage. In this patient, the diagnosis of HHT was made based on the presence of recurrent epistaxis, mucosal telangiectasia, and visceral lesions, despite the absence of a family history of the condition. The vascular malformations in HHT are characterized by the dilatation of blood vessel lumens and thinning of vessel walls, attributed to decreased transforming growth factor-beta activation and increased production of vascular endothelial growth factor, leading to the separation of endothelial and peripheral wall cells.
The patient’s severe anemia was initially attributed to pSS and PBC, but the presence of HHT was identified as the primary cause. The increased portal pressure associated with PBC likely exacerbated the gastrointestinal telangiectasia and bleeding in this patient. Thalidomide, which regulates signaling pathways involved in angiogenesis, was effective in reducing bleeding and improving anemia in this case. APC is currently the most effective therapy for telangiectasia combined with bleeding, but in this patient, two previous APCs had not improved her condition, possibly due to the effects of portal hypertension.
In summary, this case highlights the complex interplay between multiple chronic conditions in a single patient. The initial diagnosis of severe anemia was attributed to pSS and PBC, but the underlying cause was ultimately identified as HHT. The increased portal pressure from PBC likely aggravated the gastrointestinal bleeding associated with HHT. Thalidomide proved to be an effective treatment in this case, significantly improving the patient’s anemia and reducing the need for iron supplementation. This case underscores the importance of considering rare conditions like HHT in patients with severe anemia, especially when common causes do not fully explain the clinical picture.
doi.org/10.1097/CM9.0000000000000434
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