Letters to the editor
Letters to the editor
Conclusion Even though a relationship between PHPT and MM has not been proven and it is difficult to determine the extent to which each disease contributes to the level of hypercalcemia, the systematic work up of hypercalcemia is required in clinical practice, taking into consideration a possible double diagnosis [6,14,17]. Disclosure of interest: the authors declare that they have no conflicts of interest concerning this article.
[17] Fery-Blanco C, Prati C, Ornetti P, Bevalot J, Streit G, Toussirot E, et al. Hypercalcemia of double origin: association of multiple myeloma and ectopic parathyroidal adenoma. Rev Med Int 2007;28:504–6. Alban Deroux1, Elena Chidlovskii2, Wen Qin3, Pascal Couturier2, Gaetan Gavazzi2 1
CHU Albert-Michallon, Internal Medicine Unit, 38700 La Tronche, France 2 CHU Albert-Michallon, Acute Geriatric Unit, 38700 La Tronche, France 3 CHU Albert-Michallon, Nephrology Unit, 38700 La Tronche, France Correspondence: Alban Deroux, CHU Albert-Michallon, Internal Medicine Unit, boulevard de la Chantourne, 38700 La Tronche, France [email protected] Received 30 August 2014 Accepted 9 October 2014 Available online: 22 December 2014
References [1]
[2]
[3]
[4]
[5] [6]
[7]
[8]
[9]
[10]
[11]
[12] [13] [14]
[15]
362
[16]
Bringhurst R, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. In: Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008chap. 27. Amanzadeh J, Reilly RF. Hypophosphatemia: an evidence-based approach to its clinical consequences and management. Nat Clin Pract Nephrol 2006;2:136–48. Kazama I, Matsubara M, Michimata M, Suzuki M, Hatano R, Sato H, et al. Adult onset Fanconi syndrome: extensive tubulo-interstitial lesions and glomerulopathy in the early stage of Chinese herbs nephropathy. Clin Exp Nephrol 2004;8:283–7. Hussain N, Khan M, Natarajan A, Mohammedabdul M, Mustafa U, Yedulla K, et al. A case of multiple myeloma coexisting with primary hyperparathyroidism and review of the literature. Case Rep Oncol Med 2013;2013:420565. Drezner MK, Lebovitz HE. Primary hyperparathyroidism in paraneoplastic hypercalcaemia. Lancet 1978;8072:231–7. Pest EP, McQuaker G, Hunter JA, Moffat D, Stanley AJ. Primary hyperparathyroidism, amyloid and multiple myeloma: an unusual association. Scott Med J 2005;50:32–4. Pickard AL, Gridley G, Mellemkjae L, Johansen C, Kofoed-Enevoldsen A, Cantor KP, et al. Hyperparathyroidism and subsequent cancer risk in Denmark. Cancer 2002;95:1611–7. Arnulf B, Bengoufa D, Sarfati E, Toubert ME, Meignin V, Brouet JC, et al. Prevalence of monoclonal gammapathy in patients with primary hyperparathyroidism: a prospective study. Arch Intern Med 2002;162:464–7. Pollock JH, et al. In vivo demonstration that parathyroid hormone and parathyroid hormone-related protein stimulate expression by osteoclasts of interleukin-6 and leukemia inhibitory factor. J Bone Miner Res 1996;11:754–9. Barille S, Bataille R, Amiot M. The role of interleukin-6 and interleukin-6/ interleukin-6 receptor-alpha complex in the pathogenesis of multiple myeloma. Eur Cytokine Netw 2000;11:546–51. Khan A, Grey A, Shoback D. Medical management of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop. J Clin Endocrinol Metab 2009;94:373–81. Clubb JS, Posen S, Neale FC. Disappearance of a serum paraprotein after parathyroidectomy. Arch intern Med 1964;114:616–20. Tominaga Y. Surgical indications of primary hyperparathyroidism. Clin Calcium 2005;15:79–84. Fanari Z, Kadikoy H, Haque W, Pacha O, Abdellatif A. Medical management of primary hyperparathyroidism with concomitant multiple myeloma. Intern Med 2010;49:581–4. Wuthrich RP, Martin D, Bilezikian JP. The role of calcimimetics in the treatment of hyperparathyroidism. Eur J Clin Invest 2007;37:915–22. Drake MT, Clarke BL, Khosla S. Biphosphonates: mechanism of action and role in clinical practice. Mayo Clin Proc 2008;83:1032–45.
http://dx.doi.org/10.1016/j.lpm.2014.08.014 © 2014 Elsevier Masson SAS. All rights reserved.
Acute high output heart failure revealing hereditary hemorrhagic telangiectasia in a pregnant woman Insuffisance cardiaque aiguë chez une femme enceinte, révélant une maladie de Rendu-Osler Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease causing arteriovenous malformations (AVM). Patients with HHT disease have silent or symptomatic AVM most often located in lung, liver, brain and characteristic mucocutaneous telangiectasias [1,2]. Major adverse events in the course of the disease are most of the time hemorrhagic complications. When there is liver involvement, patients may develop heart failure with high cardiac output [3]. There are few data regarding the management of heart failure during pregnancy in HHT. Our case illustrates the success of a conservative management with complete regression of congestive signs, and safe delivery at almost full-term despite severe heart failure. Case report A 36-year-old woman was referred for breathlessness and itch at 25 weeks of pregnancy. She had a history of recurrent epistaxis and normal delivery of a healthy child nine years before. On physical examination, telangiectasias were observed on her face, lips, hands, and nose. Blood pressure was 120/85 mmHg. A systolic murmur, pulmonary rales, a palpable liver with hepatojugular reflux and lower limbs edema were noted. Laboratory results showed moderate anemia (hemoglobin 10 g/dL,
tome 44 > n83 > mars 2015
Letters to the editor
Lettres à la rédaction
Figure 1 Transthoracic echocardiography a: M-Mode on left ventricle (LV) showing end diastolic LV enlargement at 33 mm/m2 (normal value < 30 mm/m2); b: high cardiac output calculated from the LV outflow velocity showing a 6.23 L/min/m2 cardiac index; c: dilated inferior vena cava, measured at 25 mm without inspiratory collapse; d: continuous-wave Doppler signal of tricuspid regurgitation with a pick at 2.86 m/s corresponding to a 32 mmHg pressure difference between right ventricle and atrium in systole.
tome 44 > n83 > mars 2015
by demonstration of an ACVRL 1 mutation. There was no pulmonary or cerebral AVM. The patient was admitted in the intensive care unit, and she was given high dose intravenous loop diuretics (furosemide 240 mg/day). This led to a 12 kg weight loss within 10 days, and disappearance of congestive signs, but persisting dyspnea. No invasive treatment was decided on the liver AVM. She was treated with per os furosemide 160 mg/day and rest. The patient had cesarean delivery at 33 weeks of pregnancy because of reappearance of congestive signs while she was still taking the same high dose of furosemide. She gave birth to a healthy baby. Following delivery, the patient needed transient increase in diuretics while hemodynamic status remained stable. She was discharged from the hospital at day 16 after delivery with complete regression of congestive signs and persisting mild dyspnea. Three months after the delivery, heart failure remained asymptomatic with furosemide 40 mg, and no treatment on the liver was necessary.
363
normal value > 11 g/dL during pregnancy), elevated BNP (320 pg/mL, normal values < 100 pg/mL), and moderate cholestasis and cytolysis. Thyroid function tests were normal. ECG was in sinus tachycardia at 105 bpm. Echocardiography demonstrated a normal left and right ventricular function, a high cardiac index (6 L/min/m2), a 40 mmHg systolic pulmonary arterial pressure (PAP) evaluated from the spectral continuous-wave Doppler signal of tricuspid regurgitation, and enlarged inferior vena cava without inspiratory collapse (figure 1). Right heart catheterization documented high cardiac index at 6.3 L/min/m2, and post-capillary pulmonary hypertension with a 25 mmHg mean PAP and a 20 mmHg capillary wedge pressure. We decided to exclude pulmonary embolism by a helical computed tomography and it showed hepatic artery enlargement (11 mm), hepatic venous enlargement, and multiple arteriovenous malformations (AVM) of the liver (figure 2). A diagnosis of hereditary hemorrhagic telangiectasia (HHT) was established and further supported
Letters to the editor
Letters to the editor
Figure 2 Helical computed tomography a: liver enlargement and hepatic artery dilatation measured at 11 mm (arrow); b: hepatic vein dilatation (arrow); c: confluent arteriovenous malformation (arrow); d: intrahepatic telangiectasis (arrow).
Discussion
364
HHT is an autosomal dominant disease with a prevalence of 1/3000 to 1/40,000, depending on the geographical region. It is most often caused by mutations in the Endoglin or ACVRL1 genes. Clinical manifestations are recurrent nosebleeds, characteristic mucocutaneous telangiectasias intensifying later in life. HHT-affected individuals commonly have silent AVM most often located in lung, liver and brain. Consensus clinical diagnosis criteria (Curacao Criteria) [1] and international HHT guidelines have been established for the diagnosis and the prevention of HHT-related complications and the treatment of symptomatic disease [2]. Symptoms related to liver involvement are documented in less than 10% of HHT patients, including high output heart failure of various severity [3], portal hypertension, and biliary necrosis. Liver transplantation should be considered in patient with liver AVM that develop biliary necrosis, heart failure or portal hypertension [4]. The
pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT [5,6]. In the context of pregnancy, severe complications occur in about 4% of HHT women, mainly hemorrhages due to AVM and hemorrhage in the perinatal period [7,8]. Four cohorts indicate that the majority of HHT pregnancies proceed uneventfully but that there are significant maternal risks [7–11]. There are only few cases of acutely decompensated heart failure due to hepatic involvement during pregnancy. In one case, pregnant woman with previously unknown HHT was admitted for preterm labor and cardiac failure. After cesarean, she improved on congestive signs with medical treatment [12]. In a second case, pregnant woman with HHT had severe cholangitis and progressive liver dysfunction after delivery leading to liver
tome 44 > n83 > mars 2015
Disclosure of interest: the authors declare that they have no conflicts of interest concerning this article.
References [1]
[2]
[3]
[4] [5] [6]
[7]
[8]
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91:66–7. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. HHT Foundation International - Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48: 73–87. Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, et al. Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur J Intern Med 2013;24:e35–9. Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, et al. European Liver Transplant Association. Ann Surg 2006;244:854–62. Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J 2009;33:1186–94. Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jaïs X, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med 2010;181:851–61. Wain K, Swanson K, Watson W, Jeavons E, Weaver A, Lindor N. Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. Am J Med Genet 2012;158A:2009–14. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG 2008;115:1108–15.
tome 44 > n83 > mars 2015
[9]
[10]
[11]
[12]
[13]
[14]
[15]
[16]
Goodman RM, Gresham GE, Roberts PL. Outcome of pregnancy in patients with hereditary hemorrhagic telangiectasia. Fertil Steril 1967; 18:272–7. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JMB. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM 1995;88:879–87. de Gussem EM, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, et al. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstet Gynecol 2014;123:514–20. Goussous T, Haynes A, Najarian K, Daccarett M, David S. Hereditary hemorrhagic telangiectasia presenting as high output cardiac failure during pregnancy. Cardiol Res Pract 2009;437237. Hillert C, Broering DC, Gundlach M, Knoefel WT, Izbicki JR, Rogiers X. Hepatic involvement in hereditary hemorrhagic telangiectasia: an unusual indication for liver transplantation. Liver Transpl 2001;7:266–8. Livneh A, Langevitz P, Morag B, Catania A, Pras M. Functionally reversible hepatic arteriovenous fistulas during pregnancy in patients with hereditary hemorrhagic telangiectasia. South Med J 1988;81:1047–9. Lai CF, Dennis A, Graham J. High output cardiac failure in a parturient with hereditary haemorrhagic telangiectasia. Anaesth Intensive Care 2010; 38:381–6. Hunter S, Robson SC. Adaptation of the maternal heart in pregnancy. Br Heart J 1992;68:540–3. Emmanuelle Berthelot1,2, Laurent Savale1,3,6, Anne Guyot1,4 Farid Chakib Rahmoune1,5, Amir Bouchachi1,2, Patrick Assayag1,2 1
University Paris-Sud, 94270 Le Kremlin-Bicêtre, France 2 AP–HP, hôpital Bicêtre, service de cardiologie, 94270 Le Kremlin-Bicêtre, France 3 AP–HP, hôpital Bicêtre, service de pneumologie, DHU Thorax Innovation (DHU TORINO), 94270 Le Kremlin-Bicêtre, France 4 AP–HP, hôpital Bicêtre, service d'obstétrique, 94270 Le Kremlin-Bicêtre, France 5 AP–HP, hôpital Bicêtre, service d'anesthésie, 94270 Le Kremlin-Bicêtre, France 6 Inserm UMR_S 999, LabEx LERMIT, hôpital Bicêtre, 94270 Le Kremlin-Bicêtre, France Correspondence: Emmanuelle Berthelot, CHU de Bicêtre, Hôpital Bicêtre, service de cardiologie, 78, rue du Général-Leclerc, 94275 le Kremlin-Bicêtre, France [email protected] Received 30 August 2014 Accepted 9 October 2014 Available online: 20 December 2014 http://dx.doi.org/10.1016/j.lpm.2014.08.012 © 2014 Elsevier Masson SAS. All rights reserved.
Érythème pigmenté fixe chez un enfant : des contaminants alimentaires suspectés Suspicion of food contaminants in the occurrence of a fixed drug eruption in a child L'érythème pigmenté fixe (EPF), décrit pour la première fois par Brocq (1894) comme seule toxidermie certaine, est une
365
transplantation [13]. In two other cases of HHT discovered during pregnancy with liver involvement, congestive heart failure improved spontaneously after delivery [14,15]. In this case, we decided not to introduce aldosterone inhibitors, or beta-blockers, and to lead pregnancy further with only high dose loops diuretics and rest. It is likely that the patient became symptomatic during the second trimester of pregnancy because the physiologic cardiovascular changes induced by pregnancy (increased intravascular volume, venous distensibility, and increased cardiac output) may contribute to the enlargement of AVM [16]. The physiological increase in cardiac output approaches its maximum of 50% by the end of the second trimester. Because of preexisting high cardiac output due to liver AVM, congestive heart failure may occur during pregnancy in HHT women. This may also explain the spontaneous resolution of symptoms observed in some women after delivery. Therapeutic options for pregnant women with high cardiac output with HHT remain controversial. Pregnancy in women with HHT and heart failure is rare, but must be considered at high risk. The management may depend on the severity of the disease before pregnancy and there is a need for further study to help management of heart failure with high cardiac output in pregnant women with HHT.
Lettres à la rédaction
Lettres à la rédaction
Letters to the editor
Conclusion Even though a relationship between PHPT and MM has not been proven and it is difficult to determine the extent to which each disease contributes to the level of hypercalcemia, the systematic work up of hypercalcemia is required in clinical practice, taking into consideration a possible double diagnosis [6,14,17]. Disclosure of interest: the authors declare that they have no conflicts of interest concerning this article.
[17] Fery-Blanco C, Prati C, Ornetti P, Bevalot J, Streit G, Toussirot E, et al. Hypercalcemia of double origin: association of multiple myeloma and ectopic parathyroidal adenoma. Rev Med Int 2007;28:504–6. Alban Deroux1, Elena Chidlovskii2, Wen Qin3, Pascal Couturier2, Gaetan Gavazzi2 1
CHU Albert-Michallon, Internal Medicine Unit, 38700 La Tronche, France 2 CHU Albert-Michallon, Acute Geriatric Unit, 38700 La Tronche, France 3 CHU Albert-Michallon, Nephrology Unit, 38700 La Tronche, France Correspondence: Alban Deroux, CHU Albert-Michallon, Internal Medicine Unit, boulevard de la Chantourne, 38700 La Tronche, France [email protected] Received 30 August 2014 Accepted 9 October 2014 Available online: 22 December 2014
References [1]
[2]
[3]
[4]
[5] [6]
[7]
[8]
[9]
[10]
[11]
[12] [13] [14]
[15]
362
[16]
Bringhurst R, Demay MB, Kronenberg HM. Hormones and disorders of mineral metabolism. In: Williams Textbook of Endocrinology. 11th ed. Philadelphia, Pa: Saunders Elsevier; 2008chap. 27. Amanzadeh J, Reilly RF. Hypophosphatemia: an evidence-based approach to its clinical consequences and management. Nat Clin Pract Nephrol 2006;2:136–48. Kazama I, Matsubara M, Michimata M, Suzuki M, Hatano R, Sato H, et al. Adult onset Fanconi syndrome: extensive tubulo-interstitial lesions and glomerulopathy in the early stage of Chinese herbs nephropathy. Clin Exp Nephrol 2004;8:283–7. Hussain N, Khan M, Natarajan A, Mohammedabdul M, Mustafa U, Yedulla K, et al. A case of multiple myeloma coexisting with primary hyperparathyroidism and review of the literature. Case Rep Oncol Med 2013;2013:420565. Drezner MK, Lebovitz HE. Primary hyperparathyroidism in paraneoplastic hypercalcaemia. Lancet 1978;8072:231–7. Pest EP, McQuaker G, Hunter JA, Moffat D, Stanley AJ. Primary hyperparathyroidism, amyloid and multiple myeloma: an unusual association. Scott Med J 2005;50:32–4. Pickard AL, Gridley G, Mellemkjae L, Johansen C, Kofoed-Enevoldsen A, Cantor KP, et al. Hyperparathyroidism and subsequent cancer risk in Denmark. Cancer 2002;95:1611–7. Arnulf B, Bengoufa D, Sarfati E, Toubert ME, Meignin V, Brouet JC, et al. Prevalence of monoclonal gammapathy in patients with primary hyperparathyroidism: a prospective study. Arch Intern Med 2002;162:464–7. Pollock JH, et al. In vivo demonstration that parathyroid hormone and parathyroid hormone-related protein stimulate expression by osteoclasts of interleukin-6 and leukemia inhibitory factor. J Bone Miner Res 1996;11:754–9. Barille S, Bataille R, Amiot M. The role of interleukin-6 and interleukin-6/ interleukin-6 receptor-alpha complex in the pathogenesis of multiple myeloma. Eur Cytokine Netw 2000;11:546–51. Khan A, Grey A, Shoback D. Medical management of asymptomatic primary hyperparathyroidism: proceedings of the third international workshop. J Clin Endocrinol Metab 2009;94:373–81. Clubb JS, Posen S, Neale FC. Disappearance of a serum paraprotein after parathyroidectomy. Arch intern Med 1964;114:616–20. Tominaga Y. Surgical indications of primary hyperparathyroidism. Clin Calcium 2005;15:79–84. Fanari Z, Kadikoy H, Haque W, Pacha O, Abdellatif A. Medical management of primary hyperparathyroidism with concomitant multiple myeloma. Intern Med 2010;49:581–4. Wuthrich RP, Martin D, Bilezikian JP. The role of calcimimetics in the treatment of hyperparathyroidism. Eur J Clin Invest 2007;37:915–22. Drake MT, Clarke BL, Khosla S. Biphosphonates: mechanism of action and role in clinical practice. Mayo Clin Proc 2008;83:1032–45.
http://dx.doi.org/10.1016/j.lpm.2014.08.014 © 2014 Elsevier Masson SAS. All rights reserved.
Acute high output heart failure revealing hereditary hemorrhagic telangiectasia in a pregnant woman Insuffisance cardiaque aiguë chez une femme enceinte, révélant une maladie de Rendu-Osler Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease causing arteriovenous malformations (AVM). Patients with HHT disease have silent or symptomatic AVM most often located in lung, liver, brain and characteristic mucocutaneous telangiectasias [1,2]. Major adverse events in the course of the disease are most of the time hemorrhagic complications. When there is liver involvement, patients may develop heart failure with high cardiac output [3]. There are few data regarding the management of heart failure during pregnancy in HHT. Our case illustrates the success of a conservative management with complete regression of congestive signs, and safe delivery at almost full-term despite severe heart failure. Case report A 36-year-old woman was referred for breathlessness and itch at 25 weeks of pregnancy. She had a history of recurrent epistaxis and normal delivery of a healthy child nine years before. On physical examination, telangiectasias were observed on her face, lips, hands, and nose. Blood pressure was 120/85 mmHg. A systolic murmur, pulmonary rales, a palpable liver with hepatojugular reflux and lower limbs edema were noted. Laboratory results showed moderate anemia (hemoglobin 10 g/dL,
tome 44 > n83 > mars 2015
Letters to the editor
Lettres à la rédaction
Figure 1 Transthoracic echocardiography a: M-Mode on left ventricle (LV) showing end diastolic LV enlargement at 33 mm/m2 (normal value < 30 mm/m2); b: high cardiac output calculated from the LV outflow velocity showing a 6.23 L/min/m2 cardiac index; c: dilated inferior vena cava, measured at 25 mm without inspiratory collapse; d: continuous-wave Doppler signal of tricuspid regurgitation with a pick at 2.86 m/s corresponding to a 32 mmHg pressure difference between right ventricle and atrium in systole.
tome 44 > n83 > mars 2015
by demonstration of an ACVRL 1 mutation. There was no pulmonary or cerebral AVM. The patient was admitted in the intensive care unit, and she was given high dose intravenous loop diuretics (furosemide 240 mg/day). This led to a 12 kg weight loss within 10 days, and disappearance of congestive signs, but persisting dyspnea. No invasive treatment was decided on the liver AVM. She was treated with per os furosemide 160 mg/day and rest. The patient had cesarean delivery at 33 weeks of pregnancy because of reappearance of congestive signs while she was still taking the same high dose of furosemide. She gave birth to a healthy baby. Following delivery, the patient needed transient increase in diuretics while hemodynamic status remained stable. She was discharged from the hospital at day 16 after delivery with complete regression of congestive signs and persisting mild dyspnea. Three months after the delivery, heart failure remained asymptomatic with furosemide 40 mg, and no treatment on the liver was necessary.
363
normal value > 11 g/dL during pregnancy), elevated BNP (320 pg/mL, normal values < 100 pg/mL), and moderate cholestasis and cytolysis. Thyroid function tests were normal. ECG was in sinus tachycardia at 105 bpm. Echocardiography demonstrated a normal left and right ventricular function, a high cardiac index (6 L/min/m2), a 40 mmHg systolic pulmonary arterial pressure (PAP) evaluated from the spectral continuous-wave Doppler signal of tricuspid regurgitation, and enlarged inferior vena cava without inspiratory collapse (figure 1). Right heart catheterization documented high cardiac index at 6.3 L/min/m2, and post-capillary pulmonary hypertension with a 25 mmHg mean PAP and a 20 mmHg capillary wedge pressure. We decided to exclude pulmonary embolism by a helical computed tomography and it showed hepatic artery enlargement (11 mm), hepatic venous enlargement, and multiple arteriovenous malformations (AVM) of the liver (figure 2). A diagnosis of hereditary hemorrhagic telangiectasia (HHT) was established and further supported
Letters to the editor
Letters to the editor
Figure 2 Helical computed tomography a: liver enlargement and hepatic artery dilatation measured at 11 mm (arrow); b: hepatic vein dilatation (arrow); c: confluent arteriovenous malformation (arrow); d: intrahepatic telangiectasis (arrow).
Discussion
364
HHT is an autosomal dominant disease with a prevalence of 1/3000 to 1/40,000, depending on the geographical region. It is most often caused by mutations in the Endoglin or ACVRL1 genes. Clinical manifestations are recurrent nosebleeds, characteristic mucocutaneous telangiectasias intensifying later in life. HHT-affected individuals commonly have silent AVM most often located in lung, liver and brain. Consensus clinical diagnosis criteria (Curacao Criteria) [1] and international HHT guidelines have been established for the diagnosis and the prevention of HHT-related complications and the treatment of symptomatic disease [2]. Symptoms related to liver involvement are documented in less than 10% of HHT patients, including high output heart failure of various severity [3], portal hypertension, and biliary necrosis. Liver transplantation should be considered in patient with liver AVM that develop biliary necrosis, heart failure or portal hypertension [4]. The
pulmonary vascular complications of HHT include pulmonary arteriovenous malformations, pulmonary hypertension associated with high output heart failure and liver vascular malformations and, finally, pulmonary arterial hypertension secondary to HHT [5,6]. In the context of pregnancy, severe complications occur in about 4% of HHT women, mainly hemorrhages due to AVM and hemorrhage in the perinatal period [7,8]. Four cohorts indicate that the majority of HHT pregnancies proceed uneventfully but that there are significant maternal risks [7–11]. There are only few cases of acutely decompensated heart failure due to hepatic involvement during pregnancy. In one case, pregnant woman with previously unknown HHT was admitted for preterm labor and cardiac failure. After cesarean, she improved on congestive signs with medical treatment [12]. In a second case, pregnant woman with HHT had severe cholangitis and progressive liver dysfunction after delivery leading to liver
tome 44 > n83 > mars 2015
Disclosure of interest: the authors declare that they have no conflicts of interest concerning this article.
References [1]
[2]
[3]
[4] [5] [6]
[7]
[8]
Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJ, et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91:66–7. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, et al. HHT Foundation International - Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011;48: 73–87. Ginon I, Decullier E, Finet G, Cordier JF, Marion D, Saurin JC, et al. Hereditary hemorrhagic telangiectasia, liver vascular malformations and cardiac consequences. Eur J Intern Med 2013;24:e35–9. Lerut J, Orlando G, Adam R, Sabbà C, Pfitzmann R, Klempnauer J, et al. European Liver Transplant Association. Ann Surg 2006;244:854–62. Faughnan ME, Granton JT, Young LH. The pulmonary vascular complications of hereditary haemorrhagic telangiectasia. Eur Respir J 2009;33:1186–94. Girerd B, Montani D, Coulet F, Sztrymf B, Yaici A, Jaïs X, et al. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am J Respir Crit Care Med 2010;181:851–61. Wain K, Swanson K, Watson W, Jeavons E, Weaver A, Lindor N. Hereditary hemorrhagic telangiectasia and risks for adverse pregnancy outcomes. Am J Med Genet 2012;158A:2009–14. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JM. Estimates of maternal risks of pregnancy for women with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome): suggested approach for obstetric services. BJOG 2008;115:1108–15.
tome 44 > n83 > mars 2015
[9]
[10]
[11]
[12]
[13]
[14]
[15]
[16]
Goodman RM, Gresham GE, Roberts PL. Outcome of pregnancy in patients with hereditary hemorrhagic telangiectasia. Fertil Steril 1967; 18:272–7. Shovlin CL, Winstock AR, Peters AM, Jackson JE, Hughes JMB. Medical complications of pregnancy in hereditary haemorrhagic telangiectasia. QJM 1995;88:879–87. de Gussem EM, Lausman AY, Beder AJ, Edwards CP, Blanker MH, Terbrugge KG, et al. Outcomes of pregnancy in women with hereditary hemorrhagic telangiectasia. Obstet Gynecol 2014;123:514–20. Goussous T, Haynes A, Najarian K, Daccarett M, David S. Hereditary hemorrhagic telangiectasia presenting as high output cardiac failure during pregnancy. Cardiol Res Pract 2009;437237. Hillert C, Broering DC, Gundlach M, Knoefel WT, Izbicki JR, Rogiers X. Hepatic involvement in hereditary hemorrhagic telangiectasia: an unusual indication for liver transplantation. Liver Transpl 2001;7:266–8. Livneh A, Langevitz P, Morag B, Catania A, Pras M. Functionally reversible hepatic arteriovenous fistulas during pregnancy in patients with hereditary hemorrhagic telangiectasia. South Med J 1988;81:1047–9. Lai CF, Dennis A, Graham J. High output cardiac failure in a parturient with hereditary haemorrhagic telangiectasia. Anaesth Intensive Care 2010; 38:381–6. Hunter S, Robson SC. Adaptation of the maternal heart in pregnancy. Br Heart J 1992;68:540–3. Emmanuelle Berthelot1,2, Laurent Savale1,3,6, Anne Guyot1,4 Farid Chakib Rahmoune1,5, Amir Bouchachi1,2, Patrick Assayag1,2 1
University Paris-Sud, 94270 Le Kremlin-Bicêtre, France 2 AP–HP, hôpital Bicêtre, service de cardiologie, 94270 Le Kremlin-Bicêtre, France 3 AP–HP, hôpital Bicêtre, service de pneumologie, DHU Thorax Innovation (DHU TORINO), 94270 Le Kremlin-Bicêtre, France 4 AP–HP, hôpital Bicêtre, service d'obstétrique, 94270 Le Kremlin-Bicêtre, France 5 AP–HP, hôpital Bicêtre, service d'anesthésie, 94270 Le Kremlin-Bicêtre, France 6 Inserm UMR_S 999, LabEx LERMIT, hôpital Bicêtre, 94270 Le Kremlin-Bicêtre, France Correspondence: Emmanuelle Berthelot, CHU de Bicêtre, Hôpital Bicêtre, service de cardiologie, 78, rue du Général-Leclerc, 94275 le Kremlin-Bicêtre, France [email protected] Received 30 August 2014 Accepted 9 October 2014 Available online: 20 December 2014 http://dx.doi.org/10.1016/j.lpm.2014.08.012 © 2014 Elsevier Masson SAS. All rights reserved.
Érythème pigmenté fixe chez un enfant : des contaminants alimentaires suspectés Suspicion of food contaminants in the occurrence of a fixed drug eruption in a child L'érythème pigmenté fixe (EPF), décrit pour la première fois par Brocq (1894) comme seule toxidermie certaine, est une
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transplantation [13]. In two other cases of HHT discovered during pregnancy with liver involvement, congestive heart failure improved spontaneously after delivery [14,15]. In this case, we decided not to introduce aldosterone inhibitors, or beta-blockers, and to lead pregnancy further with only high dose loops diuretics and rest. It is likely that the patient became symptomatic during the second trimester of pregnancy because the physiologic cardiovascular changes induced by pregnancy (increased intravascular volume, venous distensibility, and increased cardiac output) may contribute to the enlargement of AVM [16]. The physiological increase in cardiac output approaches its maximum of 50% by the end of the second trimester. Because of preexisting high cardiac output due to liver AVM, congestive heart failure may occur during pregnancy in HHT women. This may also explain the spontaneous resolution of symptoms observed in some women after delivery. Therapeutic options for pregnant women with high cardiac output with HHT remain controversial. Pregnancy in women with HHT and heart failure is rare, but must be considered at high risk. The management may depend on the severity of the disease before pregnancy and there is a need for further study to help management of heart failure with high cardiac output in pregnant women with HHT.
Lettres à la rédaction
Lettres à la rédaction
