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Chủ đề: adiposis dolorosa

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  1. #1
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    adiposis dolorosa

    adiposis dolorosa: u mỡ đau; bệnh Dercum

    (cũng gọi là Dercum's disease; Dercum disease; Dercum's syndrome; Dercum syndrome; adipoma dolorosa)

    adiposis dolorosa: a disease accompanied by painful localised fatty swellings and by various nerve lesions. It is usually seen in women and may cause death from pulmonary complications

    u mỡ đau: bệnh đi kèm với chỗ phồng có đọng mỡ cục bộ gây đau đớn và nhiều thương tổn thần kinh. Thường thấy ở phụ nữ và có thể gây chết do biến chứng phổi

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    Adiposis dolorosa

    Adiposis dolorosa


    What is adiposis dolorosa?


    Adiposis dolorosa is a condition characterized by painful folds of fatty (adipose) tissue or the growth of multiple noncancerous (benign) fatty tumors called lipomas. This condition occurs most often in women who are overweight or obese, and signs and symptoms typically appear between ages 35 and 50.

    In people with adiposis dolorosa, abnormal fatty tissue or lipomas can occur anywhere on the body but are most often found on the torso, buttocks, and upper parts of the arms and legs. Lipomas usually feel like firm bumps (nodules) under the skin. The growths cause burning or aching that can be severe. In some people, the pain comes and goes, while in others it is continuous. Movement or pressure on adipose tissue or lipomas can make the pain worse.

    Other signs and symptoms that have been reported to occur with adiposis dolorosa include general weakness and tiredness (fatigue), depression, irritability, confusion, recurrent seizures (epilepsy), and a progressive decline in intellectual function (dementia). These problems do not occur in everyone with adiposis dolorosa, and it is unclear whether they are directly related to the condition.

    How common is adiposis dolorosa?

    Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men.

    What genes are related to adiposis dolorosa?

    The cause of adiposis dolorosa is unknown. The condition is thought to have a genetic component because a few families with multiple affected family members have been reported. However, no associated genes have been identified.

    Several other possible causes of adiposis dolorosa have been suggested, although none have been confirmed. They include the use of medications called corticosteroids, dysfunction of the endocrine system (which produces hormones), or changes in the deposition and breakdown of fat (adipose tissue metabolism). Researchers have also suggested that adiposis dolorosa could be an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs.

    However, there is no firm evidence that the condition is related to abnormal inflammation or other immune system malfunction.

    It is unknown why adiposis dolorosa usually occurs in people who are overweight or obese, or why the signs and symptoms do not appear until mid-adulthood.

    How do people inherit adiposis dolorosa?

    Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family.

    A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.

    Where can I find information about diagnosis or management of adiposis dolorosa?

    These resources address the diagnosis or management of adiposis dolorosa and may include treatment providers.
    You might also find information on the diagnosis or management of adiposis dolorosa inEducational resources and Patient support.

    General information about the
    diagnosis and management of genetic conditions is available in the Handbook.

    To locate a healthcare provider, see
    How can I find a genetics professional in my area?
    in the Handbook.

    Where can I find additional information about adiposis dolorosa?

    You may find the following resources about adiposis dolorosa helpful. These materials are written for the general public.
    You may also be interested in these resources, which are designed for healthcare professionals and researchers.
    • PubMed - Recent literature
    • OMIM - Genetic disorder catalog
    What other names do people use for adiposis dolorosa?
    • adiposalgia
    • adipose tissue rheumatism
    • Anders syndrome
    • Dercum disease
    • Dercum's disease
    • Dercum-Vitaut syndrome
    • lipomatosis dolorosa
    • morbus Dercum
    http://ghr.nlm.nih.gov/condition/adiposis-dolorosa
    Lần sửa cuối bởi thanhthanh, ngày 19-02-2013 lúc 08:58 AM.

  3. #3
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    Adiposis Dolorosa

    Adiposis Dolorosa

    Background

    First described in 1892 by the American neurologist Francis Xavier Dercum at Jefferson Medical College in Philadelphia, Penn, Dercum disease (adiposis dolorosa) is an unusual progressive syndrome of unknown etiology characterized by multiple painful lipomas that arise in adult life, most often affecting postmenopausal women who are obese.The onset of Dercum disease (adiposis dolorosa) is insidious. The pain is out of proportion to the physical findings and is often described by patients as "all fat hurts." The pain increases with increases in fatty tissue and in connection with menstruation. Estrogen replacement at menopause does not reduce the pain.

    Since the original description of Dercum disease (adiposis dolorosa), the clinical spectrum has changed to include, in addition to the painful nodular fatty deposits, other components of Dercum disease (adiposis dolorosa). General obesity; fatigability; weakness; and a wide variety of unexplained emotional disturbances, such as depression, confusion, and dementia, are reported. This observation is why Dercum disease has been proposed to be relabeled as Dercum syndrome.

    Dercum disease (adiposis dolorosa) has been classified by the World Health Organization (WHO), and a paraphrase from the National Organization of Rare Diseases (NORD) says "Dercum Disease is a rare disorder in which there are fatty deposits which apply pressure to the nerves, resulting in weakness and pain. Various areas of the body may swell for no apparent reason. The swelling may disappear without treatment, leaving hardened tissue or pendulous skin folds."

    Criteria for diagnosis

    Dercum disease (adiposis dolorosa) consists of 4 cardinal symptoms: (1) multiple, painful, fatty masses; (2) generalized obesity, usually in menopausal age; (3) asthenia, weakness, and fatigability; and (4) mental disturbances, including emotional instability, depression, epilepsy, confusion, and dementia.

    Associated conditions

    Associated conditions include sleep disturbances and pickwickian syndrome; slight-to-moderate dryness of the eyes and the mouth, with a gritty feeling in the eyes in spite of normal tear production (the criteria for Sjögren syndrome are not completely satisfied); an irritable bowel; coccygodynia; vulvovaginitis; vulvodynia; carpal tunnel syndrome; Tietze syndrome; chondromalacia patellae; thyroid malfunction, mainly hypothyreosis; trochanteritis; localized tendonitis; and onset of fibromyalgia (sometimes).

    Mode of inheritance

    Dercum disease (adiposis dolorosa) is believed to be transmitted in an autosomal dominant manner; it is particularly strong in the line of great grandmother-mother-daughter; however, most reported cases of adiposis dolorosa are sporadic.Pathophysiology

    The understanding of the pathogenesis and mechanism of Dercum disease (adiposis dolorosa) remains unknown. The origin of the pain is obscure, and the disease is better known as a clinical entity rather than as a physiologic or metabolic process. Fatty deposits cause nerve compression and result in weakness and pain.

    A review of the histopathologic findings of Dercum disease (adiposis dolorosa) showed no consistent histologic abnormality in the adipose tissue that might distinguish these tumors from common sporadic lipomas.In theory, the sudden appearance of the disease together with the incidence of a slight increase in the number of inflammatory cells in the fat could point toward the disease being, in part, an immune defense reaction.Some authors believe that the sympathetic nervous system may play a role in the origin and development of the pain.

    The report of a case of Dercum disease (adiposis dolorosa) developing in association with the use of high-dose corticosteroids and its resolution upon reducing the dose suggests a causal relationship. Therefore, alterations of fat metabolism induced by corticosteroid excess may play a role in the development of this syndrome.An earlier study suggested that a defect in the synthesis of monounsaturated fatty acids may play a role in its development. Further studies are needed to support this hypothesis and to identify a specific biochemical defect.

    Dercum disease (adiposis dolorosa) has been suggested to be an expression of familial multiple lipomas, which is an autosomal dominant disease characterized by multiple asymptomatic lipomas. This observation was derived by studying the family patterns of 2 siblings with adiposis Dercum disease (adiposis dolorosa); findings suggested that the disease segregates in an autosomal dominant fashion with variable phenotypic expressivity, ranging from totally asymptomatic to extremely painful lipomas.

    Mutational analysis excluded the 8344A → G mitochondrial mutation seen in other patients with multiple lipomas.The A → G transition at position 8344 in the tRNAlys gene of mitochondrial DNA has been described in the syndrome myoclonic epilepsy and ragged-red fibers (MERRF). A number of reports described the presence of multiple lipomas resembling those of multiple symmetrical lipomatosis in some members of pedigrees with MERRF harboring the 8344 tRNA mutation.

    Gamez et al described an unusual syndrome characterized by maternally inherited multiple symmetrical lipomatosis in a pedigree harboring the 8344 mutation in the tRNAlys gene of mitochondrial DNA. Although the probands in their study harbored this mutation and had sensory polyneuropathy, they lacked the typical neuromuscular manifestations of MERRF.
    Epidemiology

    Frequency

    United States

    Dercum disease (adiposis dolorosa) is rare.

    Sex

    Dercum disease (adiposis dolorosa) is 20 times more common in females who are postmenopausal, obese, or overweight than in other people. It can occur in individuals who are not obese. Sixteen percent are males.

    Age

    Dercum disease (adiposis dolorosa) occurs in persons aged 45-60 years. Rarely, it occurs in women younger than 45 years. Adiposis dolorosa is almost never seen in children.
    http://emedicine.medscape.com/article/1082083-overview
    Lần sửa cuối bởi thanhthanh, ngày 19-02-2013 lúc 09:17 AM.

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    Adiposis Dolorosa Clinical Presentation

    Adiposis Dolorosa Clinical Presentation

    History

    Previously healthy women notice lumps or previously present lumps start growing. They describe pain and discomfort in the region of the lumps associated with weakness.

    Before the onset of the disease, the patient is usually only slightly obese, but, in a short time, the patient becomes overweight. The pain increases with the increase in fatty tissue and in connection to menstruation.

    The painful lipomas have been reported to occur in any location, except in the head and the neck.

    Different types can be identified according to the spread of pain.
    • Type I, or the juxta-articular type, with painful folds of fat on the inside of the knees and/or on the hips, in rare cases only evident in upper-arm fat
    • Type II, or the diffuse, generalized type, where widespread pain from fatty tissue is found, apart from that of type I, also often in the dorsal upper-arm fat, in the axillary and gluteal fat, in the stomach wall, in dorsal fat folds, and on the soles of the feet
    • Type III, or the lipomatosis, nodular type, with intense pain in and around multiple lipomas, sometimes in the absence of general obesity; lipomas are approximately 0.5-4 cm, soft, and attached to the surrounding tissue (Histologically, these are not always encapsulated. Some have been classified as angiolipomas.)
    The pain varies from discomfort on palpation to excruciating, paroxysmal spontaneous attacks.The pain can be aching, burning, or stabbing, often described by the patient as "it hurts everywhere." The pain is usually symmetrical; however, it can become localized to the thighs, the knees, or the upper extremities. Pain can be felt in the skeletal system and in the fat.

    Hyperalgesia is found by light pressure and touch in the fatty tissue below the skin and is made worse by tightly fitting clothes or showering. The pain is temperature and weather dependent; it decreases in dry heat and when pressure is high. Hot baths can have a positive but short-term effect in the relief of pain, but some patients do not tolerate heat. Estrogen replacement at menopause does not reduce the pain.

    Other symptoms, with variable incidence, include the following:
    • The fingers have a tendency to swell up, fumble, and tingle, and they can be numb (paresthesias), in addition to secondary median nerve compression.
    • General tiredness similar to the symptoms of chronic fatigue syndrome may be present. Light physical activity and poor sleep aggravate the tiredness.
    • A tendency to bruise, possibly secondary to the formation of delicate vessels in fat deposits, may be present. Coagulation test results are normal.
    • Morning stiffness and stiffness after resting may occur.
    • Headaches (eg, tension headaches, classic migraine, neck headaches) may occur. Also, pain in the jaw and the eyes due to retrobulbar fatty tissue may be present.
    • Cognitive dysfunction, with concentration and memory problems, may be present.
    • Bouts of depression (atypical depression, possibly latent) may occur; this finding is not associated with the onset of the disease.
    • Feeling hot affects a small number of patients, with recurring high temperatures of 37.5-39°C for weeks at a time associated with worsening of pain.
    • Patients may become susceptible to infection, which is possibly due to the presence of fat. Pain is exacerbated with infections.

    Physical

    Dercum disease (adiposis dolorosa) symptoms are almost always out of proportion to the physical findings, which include the following:
    • Dercum disease (adiposis dolorosa) patients are usually 50% over the normal weight for their age. In some patients, only localized fat, without general obesity, is present.
    • Lipomas are multiple, painful, symmetrically distributed, fatty deposits that are either diffuse or localized. The abdominal region and the lower extremities are common sites, especially around the knees. The ankle is an uncommon site of involvement.
    • Hyperalgesia is found in the fatty tissue below the skin on light pressure and touch.
    • Other findings include acral swelling, bruises, and telangiectasias.
    Causes
    • The cause is unknown.
    • High-dose corticosteroids were the cause in a reported case.

    http://emedicine.medscape.com/article/1082083-clinical
    Lần sửa cuối bởi thanhthanh, ngày 19-02-2013 lúc 09:49 AM.

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    Adiposis Dolorosa Workup

    Adiposis Dolorosa Workup

    Laboratory Studies

    • Results of hormonal studies to rule out Cushing syndrome, thyroid abnormalities, and other endocrinologic abnormalities are normal.
    • Dercum disease (adiposis dolorosa) Patients might have associated slight-to-moderate rises of cholesterol levels.
    • Erythrocyte sedimentation rate results can be slightly elevated.
    • Coagulation test results are normal.
    • In spite of obesity, hypertension and type 2 diabetes mellitus seldom occur.
    • An increase in certain active parameters is seen in the following: sedimentation rate; alpha-1-antitrypsin; orosomucoid (alpha-1-acid glycoprotein, an acute phase reactant); haptoglobin; and complement factors C3, C4, Clq, and Cls.
    • The heat produced by the fat cells when measured with a microcalorie meter is approximately twice as high as that taken from people who are extremely overweight.
    • The ratio of monounsaturated fatty acid (16:1, 18:1) in the fatty tissue is greater than that of saturated fatty acid (14:1, 18:0) shown by a comparison with healthy people in controls.
    • The levels of substance P in the cerebrospinal fluid is significantly lower compared with healthy weight-matched controls. However, the average in both cases is above the normal level. The level of the neuropeptide Y is on the lower side of normal, and B-endorphin is on the higher side (H. Brorson, B. Fagher, R. Ekman; unpublished data).
    Imaging Studies

    • Ultrasonography and magnetic resonance imaging may aid in the diagnosis of Dercum disease (adiposis dolorosa).
    Histologic Findings

    A review of histopathologic findings did not reveal any significant features that might distinguish Dercum disease (adiposis dolorosa) tumors from the common sporadic lipomas. Minor features that were detected include a slight accumulation of perivascular lymphocytes and plasma cells and extremely large fat cells compared with those of healthy controls of similar weight. The tumors can be encapsulated, or the fatty deposits can be diffuse.

    http://emedicine.medscape.com/article/1082083-workup

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    Adiposis Dolorosa Treatment & Management

    Adiposis Dolorosa Treatment & Management

    Medical Care

    Traditional management of Dercum disease (adiposis dolorosa) has been largely unsatisfactory relying on weight reduction and surgical excision of particularly troublesome lesions. Even at the present time, no known drug can change the course of the disease, and available treatments are only symptomatic.

    Nonpharmacological approaches for Dercum disease (adiposis dolorosa) may be used as adjuncts to pharmacologic treatments. Some of these include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.

    The pharmacological treatments include the following:
    • Prednisone, 20 mg daily, has been reported to provide some pain relief.However, in one case, the induction of disease was associated with high-dose corticosteroids.
    • Intravenous lidocaine, 400 mg over 15 minutes every other day, has been reported to provide pain relief for 10 hours to several months.The exact mechanism of action is uncertain and remains to be elucidated as to whether it is a central effect or due to its effect on blood flow. Long-term intravenous lidocaine therapy has been associated with neurotoxicity.
    • Traditional analgesics, such as nonsteroidal anti-inflammatory drugs, have a poor effect. The lipomas are unresponsive to analgesics, and acetaminophen combined with an opioid analgesic is the first choice. Localized pain may sometimes be treated with a cortisone/anesthetic injection, alternatively with sterile water given intracutaneously or more deeply.
    Others medications are as follows:
    • Because of troublesome swelling of the fingers, some patients may require diuretics.
    • In 2 reported cases of Dercum disease (adiposis dolorosa), interferon (INF) alfa-2b induced long-term relief of pain in 2 patients with adiposis dolorosa and chronic hepatitis C. The analgesic effect of IFN therapy was unexpected and occurred 3 weeks after treatment with 3 million units, 3 times per week, for 6 months. Whether the mechanism of pain relief with IFN is related to its antiviral effect, to the production of endogenous substances (eg, endorphins produced by IFN), or to the interference of INF with interleukin 1 and tumor necrosis factor-alpha cytokine production, which are involved in cutaneous hyperalgesias, remains unclear.
    • Two Dercum disease (adiposis dolorosa) case reports have described pain relief with daily intake of oral mexiletine, an antiarrhythmic.
    • Singal et al reported improvement of a patient's Dercum disease (adiposis dolorosa) while on infliximab, with and without methotrexate, for ankylosing spondylitis. The patient experienced recurrent weight gain and lipoma pain with discontinuation of these medications.
    • Desai et al reported on treatment with a lidocaine (5%) patch, and Lange et al reported on successful therapy with pregabalin with manual lymphatic drainage.

    Surgical Care

    • Liposuction
      • Liposuction is regarded as a supportive treatment for Dercum disease (adiposis dolorosa). Any skeletal pain is not affected. A significant initial reduction of pain and an improved quality of life is seen; these effects decrease over time.
      • Liposuction is indicated for patients with general lower-body fat or more localized large deposits of fat at the knees, on the arms, on the thighs, or on the stomach as opposed to those with general diffuse pain. In those patients, liposuction is considered a risky operation, requiring about a week of care in the plastic surgery department.
    • Surgical operation: Excision of isolated painful lipomas that are pressing and causing numbness and tingling, while not preventive, is useful in ameliorating local symptoms of pain.

    Consultations

    • Psychiatrist: Depression and other psychosomatic symptoms are associated with Dercum disease (adiposis dolorosa). Many patients find they are misjudged and require psychological support.
    • Rheumatologist: A rheumatologic consultation is warranted to rule out osteoarthritis and fibromyalgia.
    • Endocrinologist: An endocrinologic etiology, such as hypothyroidism and Cushing syndrome, should be ruled out.

    Diet

    Experience shows that lasting weight reduction by changing the diet is difficult to achieve and does not appreciably affect the pain.

    Activity

    Light physical activity may worsen symptoms because of the stiffness experienced after periods of rest and minimal activity. Patients should avoid monotonous, static work and physical and psychological stress.


    http://emedicine.medscape.com/article/1082083-treatment

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    Adiposis Dolorosa Medication

    Adiposis Dolorosa Medication

    Medication Summary

    Traditional management of Dercum disease (adiposis dolorosa) has been largely unsatisfactory relying on weight reduction and surgical excision of particularly troublesome lesions. Even at the present time, no known drug can change the course of the disease, and available treatments are only symptomatic. However, in 2 reported cases, INF alfa-2b induced long-term relief of pain in 2 patients with Dercum disease (adiposis dolorosa) and chronic hepatitis C (see Medical Care).

    Corticosteroids

    Class Summary

    These agents have anti-inflammatory properties and cause profound and varied metabolic effects. They modify the body's immune response to diverse stimuli.

    Prednisone (Meticorten, Orasone, Deltasone, Sterapred)


    May provide pain relief. Caution because the adverse effects may outweigh the benefits. Immunosuppressant for treatment of autoimmune disorders; may decrease inflammation by reversing increased capillary permeability and suppressing PMN activity. Stabilizes lysosomal membranes and also suppresses lymphocyte and antibody production.

    Anesthetics

    Class Summary

    Lidocaine is reported to provide pain relief for 10 hours to several months.The exact mechanism of action is uncertain, and whether it is a central effect or due to its effect on blood flow remains to be elucidated. Cardiac monitoring is required. This should be considered an investigational therapy.

    Lidocaine anesthetic (Dilocaine, Xylocaine)


    Decreases permeability to sodium ions in neuronal membranes. Results in inhibition of depolarization, blocking transmission of nerve impulses.

    Analgesics

    Class Summary

    Pain control is essential for quality patient care, and it ensures patient comfort.
    Propoxyphene products were withdrawn from the United States market on November 19th, 2010. The withdrawal was based on new data showing QT prolongation at therapeutic doses. For more information, see the FDA MedWatch safety information.

    Acetaminophen (Feverall, Tempra, Aspirin Free Anacin, Tylenol)


    Drug of choice for pain in patients with documented hypersensitivity to aspirin or NSAIDs, with upper GI tract disease, or who are taking oral anticoagulants.




    http://emedicine.medscape.com/articl...083-medication


  8. #8
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    Adiposis Dolorosa Follow-up

    Adiposis Dolorosa Follow-up

    Complications

    • Dercum disease (adiposis dolorosa) can be debilitating and can lead to incapacitation. Also, because Dercum disease (adiposis dolorosa) symptoms are nonspecific, unnecessary medical procedures, tests, and operations can result in several complications.
    • Although rare, septicemia leading to septic shock, following necrosis of a fatty tumor, has been reported.
    Prognosis

    • The course is of Dercum disease (adiposis dolorosa) chronic and progressive.
    Patient Education

    • Educating patients about the chronicity of Dercum disease (adiposis dolorosa) and the available limited treatment modalities is important. Proper education about the aggravating and relieving factors should be explained.
    • Patient education about Dercum disease (adiposis dolorosa) is crucial. Addressing any possible needs of those persons with disabilities is important, preferably with the assistance of an occupational therapist and a social worker. Various aids may be needed in the home and at work.
    • The Dercum Group was formed in 1990 in Lund, Sweden. The group, which is a part of the Association for Rheumatics, is nationwide and has approximately 300 members. It works to provide support and information to both individual members and other interested parties.
    http://emedicine.medscape.com/article/1082083-followup


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