Ann Hematol (2004) 83:596–599 DOI 10.1007/s00277-004-0859-6 CASE REPORT Dimitrios Farmakis · Vassiliki Vesleme · Argiroula Papadogianni · Panagiotis Tsaftaridis · Pantelis Kapralos · Athanasios Aessopos Aneurysmatic dilatation of ascending aorta in a patient with b-thalassemia and a pseudoxanthoma elasticum-like syndrome Received: 5 November 2003 / Accepted: 7 February 2004 / Published online: 11 March 2004  Springer-Verlag 2004 Abstract The development of a diffuse elastic tissue defect resembling pseudoxanthoma elasticum (PXE) is a recently established and frequently encountered clinical entity in b-thalassemia. The clinical spectrum of this disorder is not yet completely understood as it is contin- uously being enriched with novel complications that are often serious. We present here a thalassemia intermedia patient with typical PXE manifestations and a fusiform aneurysmatic dilatation of the ascending thoracic aorta, a previously unknown complication in these patients. An aortic aneurysm has itself a notable morbidity, while it may also impair the particularly susceptible cardiac func- tion of b-thalassemia patients, hence affecting the overall prognosis of the main disease. Keywords Thalassemia · Pseudoxanthoma elasticum · Aortic aneurysm Introduction The presence of an elastic tissue defect resembling pseudoxanthoma elasticum (PXE) in inherited hemoglo- binopathies is a recently established clinical entity, with a prominent occurrence in b-thalassemia [1, 2]. A wide spectrum of complications, including a number of cardio- vascular ones, observed in b-thalassemia has already been associated with this PXE-like syndrome. We present here a thalassemia intermedia patient with an aneurysmatic dilatation of the ascending thoracic aorta and typical man- ifestations of PXE. To the best of our knowledge, this disorder that may be associated with an underlying elastic tissue defect has not yet been described in b-thalassemia. Case report This is the case of a 41-year-old female patient with b-thalassemia who presented with back pain. The pain was located at the middle and lower part of the thoracic spine; it had started several days before and had become worse on the day before the patient’s admission. According to her medical history, the patient had been diag- nosed to have thalassemia intermedia. Molecular analysis showed that the b-thalassemia genotype was IVS-I-6 (T!C)/IVS-I-110 (G!A). She had not been on any regular medical therapy for thalassemia, but she had been transfused only occasionally as needed to maintain a hemoglobin level ranging usually between 8 and 9 g/dl. She had undergone splenectomy and cholecystectomy 5 years prior to her admission. On physical examination on the day of admission, she had the typical appearance of a poorly treated thalassemia patient, exhibit- ing short stature [height 155 cm, weight 43 kg, estimated body surface area (BSA) 1.38 m 2 ], face bone deformities, and bulging upper abdomen. The liver was palpable 7 cm below the right costal border. Cardiac auscultation revealed tachycardia and a systolic ejection murmur, heard mostly over the cardiac base. Her blood pressure was 100/70 mmHg. A careful skin inspection revealed the presence of multiple yellowish papules at the neck, with an appearance similar to that of plucked chicken skin (Fig. 1). This finding is typically seen in PXE. Indeed, a biopsy of this lesion performed at the time that the patient was splenectomized had confirmed the diagnosis of PXE. Further investigation for other stigmata of PXE included funduscopy, which showed the presence of bilateral grey bands, resembling cracks, radiating from the optic disk to the periphery of the fundus (Fig. 2). These bands are termed angioid streaks and represent another typical finding of PXE. Full blood count revealed severe anemia (hemoglobin 6.8 g/dl). ECG showed sinus tachycardia and biventricular hypertrophy. Chest radiogram, besides an increased cardiothoracic index, was dominated by the striking presence of multiple large paraspinal masses, consistent with extramedullary hematopoietic masses, along with a significant enlargement of the ribs. Chest computed tomography (CT) scan revealed large paraspinal extramedullary hematopoietic masses in the thoracic cavity and marked, general- ized thalassemia-related bone deformities. These findings were thought to be responsible for the back pain and the patient was started on hydroxyurea and hypertransfusions, with concomitant D. Farmakis ( ) ) · V. Vesleme · A. Papadogianni · P. Tsaftaridis · P. Kapralos · A. Aessopos First Department of Internal Medicine, University of Athens, Medical School, Laiko General Hospital, Athens, Greece e-mail: dfarm1@panafonet.gr Tel.: +30-210-4619778 Fax: +30-210-4619778 D. Farmakis 182 Kallergi St, 18544 Piraeus, Greece