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Tightrope Walking with Glanzmann's Disease

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Tightrope Walking with Glanzmann's Disease CASE REPORT Tightrope walking with Glanzmann’s disease By Greta Mulders, Johan Boender Glanzmann’s disease or thrombasthenia is a very Deficiency: Bernard-Soulier rare genetic platelet function disorder, caused by a syndrome quantitative or qualitative defect or absence of platelet Deficiency: Gplb Glanzmann membrane glycoprotein IIb/IIIa. Gastrointestinal bleeds Platelet thrombasthenia are variable and may be severe, unpredictable and Gpllb-llla sometimes even untreatable. We present an 86-year- complex Fibrinogen old woman with Glanzmann’s disease, who went Gplb to her local hospital with complaints of chest pain, Endothelium ADP induces tiredness and shortness of breath. After examination conformational and laboratory research, she was diagnosed with severe change von Willebrand factor anaemia caused by angiodysplasia in the gastrointestinal Deficiency: tract. The patient was followed weekly at our outpatient von Willebrand Subendothelium disease clinic for several months. Multiple treatments were given to correct her anaemia and its underlying cause. Figure 1: Glanzmann’s disease is caused by a deficiency of the Unfortunately, the patient remained transfusion- platelet GPIIb/IIIa complex (figure adapted from Kumar V, Abbas AK, Aster JC. Robbins Basic Pathology, 9th edn. Philadelphia, PA: dependent throughout. She was treated with many Elsevier Saunders; 2012 [9]) blood transfusions, recombinant FVIIa infusions and tranexamic acid. When the burden of the disease and side-effects of the treatment became unbearable, the process mediated mainly by fibrinogen, which binds joint decision was made to stop treatment. The patient the platelet membrane glycoprotein IIb/IIIa (GPIIb/IIIa) then unexpectedly recovered from her gastrointestinal complex on platelets, ultimately forming the platelet bleeding. This case study highlights the dilemmas plug. Glanzmann’s disease is a very rare inherited clinicians often face when dealing with fragile elderly platelet function disorder, caused by quantitative or people who suffer from various disorders. qualitative defects of the GPIIb-IIIa complex, leading to impaired formation of the platelet plug (Figure 1). Keywords: Glanzmann’s disease, thrombasthenia, Without the platelet plug, it becomes more difficult for treatment, bleeding, coagulation disorder the clotting factors to create a stable fibrin clot. Glanzmann’s disease is a severe bleeding disorder, latelets are an essential part of primary with bleeding symptoms including easy bruising, haemostasis. After damage to the vessel wall, epistaxis, menorrhagia, post-partum haemorrhage platelets adhere to it via von Willebrand factor. and bleeding of the gums. Less common symptoms PThe activated platelets then aggregate, a are gastrointestinal bleeding, haematuria, and bleeds in joints or muscles and the central nervous system. Treatment, according to national guidelines, GRETA MULDERS, RN MANP AND JOHAN BOENDER, MD Department of Hematology, Erasmus University comprises platelet transfusion, recombinant FVIIa and Medical Center, Hemophilia Treatment Center, Rotterdam, tranexamic acid. Platelet transfusion may result in the Netherlands. Email: [email protected] HLA immunisation, which limits transfusion efficacy. J Haem Pract 2017; 4(1). doi: 10.17225/jhp00099 www.haemjournal.com 1 It is estimated that one in 1,000,000 individuals have commonly in the cecum and proximal ascending Glanzmann’s disease, (although the exact number colon [2, 3]. The vessel walls are thin, with little or no is unknown), with a slight predominance in women smooth muscle, known as thin vessel malformation. compared to men [1]. Confusion about the exact nature of these lesions has resulted in them being referred to by a multitude Case presentation of terms, including arteriovenous malformation, An 86-year-old woman presented at the emergency haemangioma, telangiectasia and vascular ectasia. department with chest pain, tiredness and shortness These terms have varying pathophysiologies, with a of breath. These complaints had worsened over common presentation of GI bleeding. Angiodysplasia the previous two weeks. The patient had originally is usually diagnosed by endoscopy, but can only been diagnosed with von Willebrand disease, which be seen when there is active bleeding [3]. Treatment was changed to Glanzmann’s disease in 1973 after usually consists of endoscopic coagulation, but an endometrial curettage for menorrhagia was often systemic therapy is necessary. Up to half of complicated by a perforation and severe bleeding. all angiodysplasias resolve spontaneously [3]. The In 2007 and 2008, the patient suffered from severity of bleeding from angiodysplasia ranges from several episodes of gastrointestinal bleeding due asymptomatic to transfusion-refractory anaemia. to angiodysplasia and was treated with endoscopic In light of reports showing the cholesterol- coagulation, recombinant coagulation factor VIIa independent vascular effects of statins on (rFVIIa) and HLA-matched platelet transfusions. In 2011, angiogenesis, atorvastatin 80mg each day was the patient was given rFVIIa after a head trauma. Her prescribed for three months [4]. After two months, medication included prophylactic tranexamic acid and side-effects, including nausea, muscle pain and treatment for hypothyroidism. There was no medical or hair loss, led to discontinuation of the atorvastatin. family history of cardiovascular or pulmonary disease. Regrettably, the patient was still dependent on two- After the loss of her husband, the patient became weekly blood transfusions to keep her haemoglobin socially isolated and suffered from depression. She no at an acceptable level. We therefore started treatment longer spoke with her only child. with thalidomide 50mg for six weeks, followed by Further examination ruled out cardiac or pulmonary 100mg for six weeks. causes for the patient’s complaints. Vital signs were In the late 1950s, thalidomide was promoted as a normal. Laboratory investigation revealed anaemia ‘wonder drug’ to treat a range of conditions, including (haemoglobin 5.0 mmol/L or 8 g/dL, reference value headaches, insomnia and depression. It was popular 12-15.2 g/dL) and iron deficiency (blood iron 3.6 because it was atoxic and it was therefore deemed μmol/L, reference value 10-30 μmol/L). impossible to overdose on it. However, long-term use led to irreversible peripheral neuritis in many Management and outcome patients. It was then remarketed as a short-term The patient was admitted in the hospital to correct treatment for pregnant women, typically in the first her anaemia and iron deficiency. She was treated three months of pregnancy, to combat morning with repeated blood transfusions, FVIIa infusions and sickness. Throughout the world, about 10,000 cases tranexamic acid. Unfortunately, the anaemia failed of infants with phocomelia (malformation of the to resolve. Abdominal imaging did not show intra- limbs) due to thalidomide were reported. Nowadays, abdominal bleeding. Even though the patient did thalidomide is used in the treatment of a number of not report rectal bleeding or melena, a gastroscopy conditions, including erythema nodosum leprosum, and colonoscopy were performed, neither of which multiple myeloma and various other cancers, as a revealed a clear bleeding focus. Taking the patient potent inhibitor of angiogenesis. The main side-effects history into account, and as other causes for the attributable to thalidomide are fatigue, constipation anaemia had been ruled out, a capsular endoscopy was and peripheral neuropathy, which were also present in performed. This showed fresh blood in the jejunum. our patient. We therefore concluded that the anaemia was caused After 12 weeks of treatment, thalidomide was by angiodysplasia in the gastrointestinal tract. stopped due to side-effects, even though regular Angiodysplasia is the most common vascular lesion blood transfusions were still necessary. However, of the gastrointestinal tract. A degenerative lesion after discontinuation of treatment, the gastrointestinal of previously healthy blood vessels, it is found most bleeding miraculously ceased. During an eight- 2 www.haemjournal.com J Haem Pract 2017; 4(1). doi: 10.17225/jhp00099 Table 1: Treatment according to the Dutch guidelines [5]: GLANZMANN’S DISEASE ANEMIA ANGIODYSPLASIA rFVIIa as bolus injections Red blood cell transfusion Estrogens HLA-matched platelets transfusions intravenous iron therapy Statins Tranexamic acid Thalidomide month period, the patient received 117 red blood cell home, in case she had an accident. As a haemophilia transfusions, 6 platelet transfusions and 14 injections of treatment team, our tightrope walk was about 7mg rFVIIa infusions. trying to find a balance between interference and During this period, the patient suffered professional guidance. considerably and lived between hope and fear. The impact of the psychosocial burden was high. At Disclosures first, she was not willing to accept any help from a The authors have advised no interests that might be home care institution or support from her general perceived as posing a conflict or bias. practitioner. However, at our explicit request, she This is an Open Access article distributed under eventually agreed to receive a degree of support and the terms of the Creative Commons Attribution guidance from our social worker and her general License (http://creativecommons.org/licenses/by/2.0), practitioner. After careful consideration and in which permits unrestricted use, distribution, and consultation with
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