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Dercum’s disease (adiposis dolorosa): a new case-report
Joint Bone Spine 71 (2004) 147–149 www.elsevier.com/locate/bonsoi
Case report
Dercum’s disease (adiposis dolorosa): a new case-report Bouchra Amine *, Fabienne Leguilchard, Claude Laurent Benhamou Rheumatology Department, Porte Madeleine Hospital, Orléans Regional Hospital Center, 10000 Orléans, France Received 22 October 2002; accepted 17 December 2002
Abstract Dercum’s disease, or adiposa dolorosa, is a rare condition characterized by the development of multiple painful subcutaneous lipomas. Postmenopausal women are selectively affected. The ankle area is an uncommon site of involvement. We report a case with lipomas about the ankle, and we review the relevant literature. Case-report. – This 46-year-old perimenopausal woman receiving follow-up for depression presented in December 1997 for swelling and mechanical pain in the right ankle. Lumps behind and under the malleoli were removed surgically and found to have the typical histological features of lipomas. In January 2000, a lump developed behind and under the malleoli of the left ankle, and the lumps on the right recurred. The physical examination showed obesity, with a body mass index of 32.04 kg/m2. Firm, mobile, painless lumps were felt under and behind the malleoli on both sides. The ankles were painful, although range of motion was normal. Examination of the back found two similar lumps. The erythrocyte sedimentation rate was 10 mm/h and the C–reactive protein level was 6 mg/l. Serum lipid levels were normal. Findings were normal from plain radiographs of the ankles. Ultrasound scanning of the ankles confirmed that the lumps were composed of adipose tissue. Magnetic resonance imaging visualized an arc-shaped lipomatous mass on the left. Whole-body bone density measurement found an increase in fat mass of the lower limbs with normal bone mass. The ankle lipomas were removed surgically. At last follow-up 18 months later, she was free of recurrence. Discussion. – Dercum’s disease is a rare condition of unknown etiology characterized by multiple, often painful lipomas. Paresthesia in the overlying skin is common. Lipomas about the joints cause mechanical arthralgia. The diagnosis, which is often delayed, rests on ultrasonography and, above all, magnetic resonance imaging. A combination of medications, surgery, and psychiatric care is usually needed. The treatment aims at relieving the pain and restoring a normal appearance. © 2003 Published by Elsevier SAS. Keywords: Dercum’s disease; Adiposis dolorosa; Painful lipomas
1. Introduction
2. Case-report
Dercum’s disease, or adiposa dolorosa, is a rare condition in which multiple painful lipomas develop in the subcutaneous tissue [1–4]. Lipomas about the joints may cause arthralgia [4,5]. The etiology of Dercum’s disease remains unknown, although several pathophysiological hypotheses have been put forward. Surgery and liposuction are often used to remove the lumps but fail to prevent recurrences. We report a case with lipomas about the ankle, which is a rare site of involvement, and we review the relevant literature.
A 46-year-old perimenopausal woman with a 5 year history of depression presented in December 1997 for gradual development of mechanical pain and swelling of the right ankle. The pain was refractory to analgesics and to antiinflammatory drugs. Lumps were found under and behind the malleoli and were removed surgically. Histological studies showed typical features of lipoma without inflammation or vascular abnormalities. In January 2000, the lumps recurred, and new lumps developed about the left ankle. The patient was admitted in August 2000. Physical examination showed obesity (80 kg, 1.58 m, yielding a body mass index of 32.04 kg/m2). The pain was severe, with a visual analog scale (VAS) score of 60/100 at rest and 90/100 when standing or walking. Firm mobile lumps were felt under and behind the malleoli on both sides. The lumps were painless to palpation. Motion of the ankles was painful but normal in range. Exami-
* Corresponding author. Service de Rhumatologie “B”, Hôpital El Ayachi, Salé, Morocco. E-mail address: [email protected] (B. Amine). © 2003 Published by Elsevier SAS. doi:10.1016/S1297-319X(03)00139-8
148
B. Amine et al. / Joint Bone Spine 71 (2004) 147–149
nation of the back showed two lumps similar to those about the ankles. The neurological evaluation was normal, and other physical findings were unremarkable. The erythrocyte sedimentation rate was 10 mm/h and the serum C–reactive protein level was 6 mg/l. Findings were normal from blood cell counts, serum electrolyte levels, liver function tests, serum protein electrophoresis, serum lipids (cholesterol, triglycerides, HDL, and LDL), and plain radiographs of the ankles. Ultrasonography of the ankles was consistent with lipomas. Magnetic resonance imaging disclosed an arcshaped lipoma behind and under the left lateral malleolus, with no extension into the joint or toward the neighboring tendon sheaths (Fig. 1). A scar with no remarkable features was visible on the right (Fig. 2). Bone mineral density was normal, with T score values of –0.61 at the lumbar spine and –1.13 at the femoral neck. Whole-body measurements disclosed an increase in body fat in the lower limbs. The lipomas at both ankles were removed surgically. After the procedure,
Fig. 1. Magnetic resonance imaging of the ankles, sagittal section: lipomas about the joint.
Fig. 2. Magnetic resonance imaging of the ankles, coronal section: lipomas about the joint.
a slight decrease in range of motion of the tibiotalar joints was noted. At last follow-up 18 months later, there was no evidence of recurrence.
3. Discussion Dercum’s disease was first described in 1888 by Francis Xavier Dercum, who suggested the name “adiposis dolorosa” [1]. The disease is inherited on an autosomal dominant basis, with variable penetrance [4]. Most cases are sporadic, although affected families have been described. Postmenopausal women are selectively affected. A few cases have been reported in men [4]. The etiology is unknown, but a number of pathogenic hypotheses have been put forward. Metabolic studies have shown increased liposynthesis, decreased lipolysis, and alterations in the enzymes involved in producing and utilizing fatty acid long chains, with a block in the production of specific fatty acids at position C16–C18 [6]. Abnormalities in carbohydrate metabolism have been found, including decreased glucose utilization, decreased sensitivity to insulin, and decreased conversion of glucose to neutral glycerides in the painful adipose tissue [2]. Alterations in thyroid, adrenal, gonadal, and pituitary function have been reported [3,4,6]. The pain may be related to microthrombosis or peripheral nerve abnormalities [3,4,6]. The clinical symptoms are nonspecific [4]. Many patients have multiple lipomas in the subcutaneous tissue of the knees, back, neck, thighs, and arms. The face and hands are often spared. The lipomas are painful spontaneously, with paresthesia in the overlying skin. A low pain threshold seems characteristic. The skin over the lipomas is either normal or shiny, under tension, with dilated superficial veins [4,6,7]. Asthenia and fatigue are common [4,8]. Emotional lability, irritability, depression, epilepsy, confusion, and dementia are often present and complicate the diagnosis [4,6,9]. Other reported manifestations include loss of pubic and axillary hair [4], myxedema, hot flushes [6], arterial hypertension, early congestive heart failure [2,4,6], cyanosis, dyspnea, and tachypnea [6]. This wide spectrum of clinical patterns often delays the diagnosis [10,11]. Lipomas about the joints cause mechanical arthralgia. The knees are selectively affected. Adiposis dolorosa has been reported in patients with osteoarthritis or rheumatoid arthritis [4,11,12]. The plain radiographs are normal unless there is a concomitant condition. Ultrasonography identifies the lumps as lipomas and visualizes their relations with neighboring structures. MRI is the investigation of choice. The lipomas generate high signal on both T1– and T2–weighted images, without enhancement after gadolinium injection. MRI provides accurate information on relations with the tendons, bones, and joints. The fat cells and nerve fibers have a normal microscopic appearance. Dercum described abnormalities around the nerves possibly related to the pain, such as increased vascularity, fibroblast proliferation, and fat cell necrosis [3,13]. Laboratory tests show no evidence ofinflammation, and the lipid profile is normal [2].
B. Amine et al. / Joint Bone Spine 71 (2004) 147–149
The treatment seeks to relieve the pain and to correct the disfigurement. Medications, surgery, and psychiatric care should be used in combination [14]. Analgesics and nonsteroidal antiinflammatory drugs have little or no effect [1,12]. Prednisone in a daily dosage of 20 mg has been reported to provide some pain relief [13]. Weight loss is often an elusive goal and does not consistently result in pain relief or clearing of the lipomas [5,6]. Intravenous lidocaine in a dosage of 400 mg as a 15–min infusion has been found effective [3,15]. Mexiletine (200 mg t.i.d.) should be given concomitantly to prevent cardiovascular and other side effects. Topical lidocaine combined with pilocarpine has been found helpful [3,6,14]. In patients with rheumatoid arthritis, local corticosteroid injections have been followed by pain relief lasting 24 h to 5 months [11]. The lipomas can be removed surgically or by liposuction. Surgical excision is often effective in relieving the pain but is contraindicated in some patients and is associated with substantial obesity-related morbidity. Furthermore, the lipomas often recur within a few months [1,10,14]. Liposuction is widely used as a cosmetic procedure and is considered similar to surgery in terms of efficacy in removing the lipomas, relieving the pain, and correcting the disfigurement and attendant psychiatric disorders. Liposuction can be used with local anesthesia or epidural anesthesia, according to the extent of the lesions [1–3,6,9]. 4. Conclusion Adiposis dolorosa is uncommon about the ankles. Ultrasonography and, above all, MRI make a major contribution to the diagnosis of this condition. The treatment should combine medications, surgery, and psychiatric care. Recurrence at the same site or elsewhere is extremely common.
149
References [1] [2]
[3] [4] [5] [6]
[7] [8]
[9] [10] [11] [12]
[13] [14] [15]
Berenguer B, de la Cruz L. Liposuction in atypical cases. Plast Surg 2000;24:13–21. Berntorp E, Berntorp K. Liposuction in Dercum’s disease: impact on homeostatic factors associated with cardiovascular disease and insulin sensitivity. J Intern Med 1998;243:197–201. Bonoatus TJ, Alexander AH. Dercum’s disease: a case report and review of the literature. Clin Orthop 1986:205–51. Brodovsky S, Westreich M. Adiposis dolorosa (Dercum’s disease): 10–year follow-up. Ann Plast Surg 1994;33(6):664–8. Harris K, Davies K. A pain in the groin. Lancet 1997;350:334. Defranzo AJ, John M. Adiposis dolorosa (Dercum’s disease): liposuction as an effective form of treatment. Plast Reconstr Surg 1990;289: 289–92. Eisman J, Swery. Juxta-articular adiposis dolorosa: what is it? Report of two cases. Ann Rheum disease 1979;38:479. Devillers ACA, Orange AP. Treatment of pain in adiposis dolorosa (Dercum’s disease) with intravenous Lidocaïne: a case report with a 10–year follow-up. Clin Exp Dermatol 1999;24:237–42. Jensen J, Kiilerich S. Adiposis dolorosa: Dercum’s disease. Ugeskr Laeger 1991;153(50):3564. Jonathan L, Held M. Surgical amelioration of Dercum’s disease: a report and review. J Dermatol Surg Oncol 1989;15(12):1294–6. Nahir AM, Schapira D. Juxta-articular adiposis dolorosa, a neglected disease. Israel J Med Sci 1983;19:358–9. Weinberger A, Wysenbeec. Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticoid injection. Clin Rheumatol 1987;6(3):446–8. Palmer ED. Dercum’s disease: adiposis dolorosa. Am Fam Physician 1981;24:155. Reece PH. FRCS. Dercum’s disease (adiposis dolorosa). J Laryngol Ontol 1999;133:174–6. Peterson P, Kasrup. Dercum’s disease (adiposis dolorosa) treatment of the severe pain with intravenous lidocaine. Pain 1987;28:77–80.
Case report
Dercum’s disease (adiposis dolorosa): a new case-report Bouchra Amine *, Fabienne Leguilchard, Claude Laurent Benhamou Rheumatology Department, Porte Madeleine Hospital, Orléans Regional Hospital Center, 10000 Orléans, France Received 22 October 2002; accepted 17 December 2002
Abstract Dercum’s disease, or adiposa dolorosa, is a rare condition characterized by the development of multiple painful subcutaneous lipomas. Postmenopausal women are selectively affected. The ankle area is an uncommon site of involvement. We report a case with lipomas about the ankle, and we review the relevant literature. Case-report. – This 46-year-old perimenopausal woman receiving follow-up for depression presented in December 1997 for swelling and mechanical pain in the right ankle. Lumps behind and under the malleoli were removed surgically and found to have the typical histological features of lipomas. In January 2000, a lump developed behind and under the malleoli of the left ankle, and the lumps on the right recurred. The physical examination showed obesity, with a body mass index of 32.04 kg/m2. Firm, mobile, painless lumps were felt under and behind the malleoli on both sides. The ankles were painful, although range of motion was normal. Examination of the back found two similar lumps. The erythrocyte sedimentation rate was 10 mm/h and the C–reactive protein level was 6 mg/l. Serum lipid levels were normal. Findings were normal from plain radiographs of the ankles. Ultrasound scanning of the ankles confirmed that the lumps were composed of adipose tissue. Magnetic resonance imaging visualized an arc-shaped lipomatous mass on the left. Whole-body bone density measurement found an increase in fat mass of the lower limbs with normal bone mass. The ankle lipomas were removed surgically. At last follow-up 18 months later, she was free of recurrence. Discussion. – Dercum’s disease is a rare condition of unknown etiology characterized by multiple, often painful lipomas. Paresthesia in the overlying skin is common. Lipomas about the joints cause mechanical arthralgia. The diagnosis, which is often delayed, rests on ultrasonography and, above all, magnetic resonance imaging. A combination of medications, surgery, and psychiatric care is usually needed. The treatment aims at relieving the pain and restoring a normal appearance. © 2003 Published by Elsevier SAS. Keywords: Dercum’s disease; Adiposis dolorosa; Painful lipomas
1. Introduction
2. Case-report
Dercum’s disease, or adiposa dolorosa, is a rare condition in which multiple painful lipomas develop in the subcutaneous tissue [1–4]. Lipomas about the joints may cause arthralgia [4,5]. The etiology of Dercum’s disease remains unknown, although several pathophysiological hypotheses have been put forward. Surgery and liposuction are often used to remove the lumps but fail to prevent recurrences. We report a case with lipomas about the ankle, which is a rare site of involvement, and we review the relevant literature.
A 46-year-old perimenopausal woman with a 5 year history of depression presented in December 1997 for gradual development of mechanical pain and swelling of the right ankle. The pain was refractory to analgesics and to antiinflammatory drugs. Lumps were found under and behind the malleoli and were removed surgically. Histological studies showed typical features of lipoma without inflammation or vascular abnormalities. In January 2000, the lumps recurred, and new lumps developed about the left ankle. The patient was admitted in August 2000. Physical examination showed obesity (80 kg, 1.58 m, yielding a body mass index of 32.04 kg/m2). The pain was severe, with a visual analog scale (VAS) score of 60/100 at rest and 90/100 when standing or walking. Firm mobile lumps were felt under and behind the malleoli on both sides. The lumps were painless to palpation. Motion of the ankles was painful but normal in range. Exami-
* Corresponding author. Service de Rhumatologie “B”, Hôpital El Ayachi, Salé, Morocco. E-mail address: [email protected] (B. Amine). © 2003 Published by Elsevier SAS. doi:10.1016/S1297-319X(03)00139-8
148
B. Amine et al. / Joint Bone Spine 71 (2004) 147–149
nation of the back showed two lumps similar to those about the ankles. The neurological evaluation was normal, and other physical findings were unremarkable. The erythrocyte sedimentation rate was 10 mm/h and the serum C–reactive protein level was 6 mg/l. Findings were normal from blood cell counts, serum electrolyte levels, liver function tests, serum protein electrophoresis, serum lipids (cholesterol, triglycerides, HDL, and LDL), and plain radiographs of the ankles. Ultrasonography of the ankles was consistent with lipomas. Magnetic resonance imaging disclosed an arcshaped lipoma behind and under the left lateral malleolus, with no extension into the joint or toward the neighboring tendon sheaths (Fig. 1). A scar with no remarkable features was visible on the right (Fig. 2). Bone mineral density was normal, with T score values of –0.61 at the lumbar spine and –1.13 at the femoral neck. Whole-body measurements disclosed an increase in body fat in the lower limbs. The lipomas at both ankles were removed surgically. After the procedure,
Fig. 1. Magnetic resonance imaging of the ankles, sagittal section: lipomas about the joint.
Fig. 2. Magnetic resonance imaging of the ankles, coronal section: lipomas about the joint.
a slight decrease in range of motion of the tibiotalar joints was noted. At last follow-up 18 months later, there was no evidence of recurrence.
3. Discussion Dercum’s disease was first described in 1888 by Francis Xavier Dercum, who suggested the name “adiposis dolorosa” [1]. The disease is inherited on an autosomal dominant basis, with variable penetrance [4]. Most cases are sporadic, although affected families have been described. Postmenopausal women are selectively affected. A few cases have been reported in men [4]. The etiology is unknown, but a number of pathogenic hypotheses have been put forward. Metabolic studies have shown increased liposynthesis, decreased lipolysis, and alterations in the enzymes involved in producing and utilizing fatty acid long chains, with a block in the production of specific fatty acids at position C16–C18 [6]. Abnormalities in carbohydrate metabolism have been found, including decreased glucose utilization, decreased sensitivity to insulin, and decreased conversion of glucose to neutral glycerides in the painful adipose tissue [2]. Alterations in thyroid, adrenal, gonadal, and pituitary function have been reported [3,4,6]. The pain may be related to microthrombosis or peripheral nerve abnormalities [3,4,6]. The clinical symptoms are nonspecific [4]. Many patients have multiple lipomas in the subcutaneous tissue of the knees, back, neck, thighs, and arms. The face and hands are often spared. The lipomas are painful spontaneously, with paresthesia in the overlying skin. A low pain threshold seems characteristic. The skin over the lipomas is either normal or shiny, under tension, with dilated superficial veins [4,6,7]. Asthenia and fatigue are common [4,8]. Emotional lability, irritability, depression, epilepsy, confusion, and dementia are often present and complicate the diagnosis [4,6,9]. Other reported manifestations include loss of pubic and axillary hair [4], myxedema, hot flushes [6], arterial hypertension, early congestive heart failure [2,4,6], cyanosis, dyspnea, and tachypnea [6]. This wide spectrum of clinical patterns often delays the diagnosis [10,11]. Lipomas about the joints cause mechanical arthralgia. The knees are selectively affected. Adiposis dolorosa has been reported in patients with osteoarthritis or rheumatoid arthritis [4,11,12]. The plain radiographs are normal unless there is a concomitant condition. Ultrasonography identifies the lumps as lipomas and visualizes their relations with neighboring structures. MRI is the investigation of choice. The lipomas generate high signal on both T1– and T2–weighted images, without enhancement after gadolinium injection. MRI provides accurate information on relations with the tendons, bones, and joints. The fat cells and nerve fibers have a normal microscopic appearance. Dercum described abnormalities around the nerves possibly related to the pain, such as increased vascularity, fibroblast proliferation, and fat cell necrosis [3,13]. Laboratory tests show no evidence ofinflammation, and the lipid profile is normal [2].
B. Amine et al. / Joint Bone Spine 71 (2004) 147–149
The treatment seeks to relieve the pain and to correct the disfigurement. Medications, surgery, and psychiatric care should be used in combination [14]. Analgesics and nonsteroidal antiinflammatory drugs have little or no effect [1,12]. Prednisone in a daily dosage of 20 mg has been reported to provide some pain relief [13]. Weight loss is often an elusive goal and does not consistently result in pain relief or clearing of the lipomas [5,6]. Intravenous lidocaine in a dosage of 400 mg as a 15–min infusion has been found effective [3,15]. Mexiletine (200 mg t.i.d.) should be given concomitantly to prevent cardiovascular and other side effects. Topical lidocaine combined with pilocarpine has been found helpful [3,6,14]. In patients with rheumatoid arthritis, local corticosteroid injections have been followed by pain relief lasting 24 h to 5 months [11]. The lipomas can be removed surgically or by liposuction. Surgical excision is often effective in relieving the pain but is contraindicated in some patients and is associated with substantial obesity-related morbidity. Furthermore, the lipomas often recur within a few months [1,10,14]. Liposuction is widely used as a cosmetic procedure and is considered similar to surgery in terms of efficacy in removing the lipomas, relieving the pain, and correcting the disfigurement and attendant psychiatric disorders. Liposuction can be used with local anesthesia or epidural anesthesia, according to the extent of the lesions [1–3,6,9]. 4. Conclusion Adiposis dolorosa is uncommon about the ankles. Ultrasonography and, above all, MRI make a major contribution to the diagnosis of this condition. The treatment should combine medications, surgery, and psychiatric care. Recurrence at the same site or elsewhere is extremely common.
149
References [1] [2]
[3] [4] [5] [6]
[7] [8]
[9] [10] [11] [12]
[13] [14] [15]
Berenguer B, de la Cruz L. Liposuction in atypical cases. Plast Surg 2000;24:13–21. Berntorp E, Berntorp K. Liposuction in Dercum’s disease: impact on homeostatic factors associated with cardiovascular disease and insulin sensitivity. J Intern Med 1998;243:197–201. Bonoatus TJ, Alexander AH. Dercum’s disease: a case report and review of the literature. Clin Orthop 1986:205–51. Brodovsky S, Westreich M. Adiposis dolorosa (Dercum’s disease): 10–year follow-up. Ann Plast Surg 1994;33(6):664–8. Harris K, Davies K. A pain in the groin. Lancet 1997;350:334. Defranzo AJ, John M. Adiposis dolorosa (Dercum’s disease): liposuction as an effective form of treatment. Plast Reconstr Surg 1990;289: 289–92. Eisman J, Swery. Juxta-articular adiposis dolorosa: what is it? Report of two cases. Ann Rheum disease 1979;38:479. Devillers ACA, Orange AP. Treatment of pain in adiposis dolorosa (Dercum’s disease) with intravenous Lidocaïne: a case report with a 10–year follow-up. Clin Exp Dermatol 1999;24:237–42. Jensen J, Kiilerich S. Adiposis dolorosa: Dercum’s disease. Ugeskr Laeger 1991;153(50):3564. Jonathan L, Held M. Surgical amelioration of Dercum’s disease: a report and review. J Dermatol Surg Oncol 1989;15(12):1294–6. Nahir AM, Schapira D. Juxta-articular adiposis dolorosa, a neglected disease. Israel J Med Sci 1983;19:358–9. Weinberger A, Wysenbeec. Juxta-articular adiposis dolorosa associated with rheumatoid arthritis. Report of 2 cases with good response to local corticoid injection. Clin Rheumatol 1987;6(3):446–8. Palmer ED. Dercum’s disease: adiposis dolorosa. Am Fam Physician 1981;24:155. Reece PH. FRCS. Dercum’s disease (adiposis dolorosa). J Laryngol Ontol 1999;133:174–6. Peterson P, Kasrup. Dercum’s disease (adiposis dolorosa) treatment of the severe pain with intravenous lidocaine. Pain 1987;28:77–80.