We present a case of a 39-year-old man who presented with chronic bilateral upper extremity pain associated with innumerable angiomyolipomas that developed 5 years after a motor vehicle accident involving his upper extremities. Our case notes the rare nature of painful adipose tissue deposits and the diagnostic challenges.
BMJ Case Reports 2018; doi:10.1136/bcr-2017-223869
This document is in German. Google Translate was used on the following paragraphs.
In the case of lipomatosis dolorosa, generalized and diffuse painful subcutaneous adipose tissue tumors occur. Mainly obese women are affected; the incidence peak is between the ages of 35 and 50, often after the menopause. The rare disease was in the year First described in 1892 by Francis Xavier Dercum, an American doctor. More detailed data on epidemiology are not yet available, so that the current literature is limited to individual cases and smaller case series.
The previously suspected endocrine or neuronal dysfunctions did not stand up to review in studies. Likewise, no clear evidence of disturbances in fatty acid metabolism or an increased “level of inflammation” was found. There were no significant differences in the concentration of tumor necrosis factor (TNF) -α, interleukin (IL) in ten patients with Dercum disease compared to an age, BMI, body fat mass and weight-adjusted female control cohort. 1β, IL-8, IL-10, CC chemokine ligand (CCL) 3, leptin or adiponectin. Even the earlier hypothesis that the genesis is traumatically induced can not be substantiated by the few case reports published in this regard.
In a study from 2014 with indocyanine green visualization of the lymphoid pathways by near infraRed fluorescence (NIRF) videography in three patients with Dercum disease, delayed lymphatic drainage was detected in the dilated lymphatics of the lipomas. The mutation of mitochondrial DNA described in BSL has not been proven in Dercum disease.
Full text PDF here: https://onlinelibrary.wiley.com/doi/abs/10.1111/ddg.13460_g
• D-amphetamine anecdotally improves the painful fat/lymphatic disorder, Dercum’s disease.
• Two patients with Dercum’s disease were treated with d-amphetamine to improve lymphatic function through the sympathetic nervous system.
• Both patients lost weight, and fatty liver in a man and liver lipomas in a woman resolved in less than a year on ≤20 mg of D-amphetamine daily.
• Low dose d-amphetamine may improve fatty liver and Dercum’s disease.
Dercum disease is a rare disorder of painful subcutaneous adipose tissue masses typically presenting as a constellation of signs and symptoms affecting most organs including slow lymphatic flow and fatty liver.
The University of Arizona Institutional Review Board considered this report exempt after patient consent. Multislice, multisequence magnetic resonance imaging (MRI) of the abdomen and pelvis was performed before and after d-amphetamine, with and without intravenous gadolinium.
Initial MRI demonstrated hepatic steatosis in Case 1; Case 2 had two-subcentimeter lipid foci within the liver. Initiation of 10-20 mg d-amphetamine decreased liver lipid deposition from 16% to 4% in Case 1 and resolved fat deposits in Case 2 after ~one year.
There is a dire need for novel treatment options for non-alcoholic fatty liver disease to prevent progression to cirrhosis. Reduction of liver fat by d-amphetamine suggests a potential therapeutic role in non-alcoholic fatty liver disease.
S. Ghazala, J. Bilal, E. Ross, B. Kalb, I.B Riaz, K.L. Herbst
A 60-year-old woman affected by rheumatoid arthritis (RA) reported a 12-month history of progressive growth of multiple, painful and symmetrically distributed subcutaneous nodules affecting forearms, thighs and lower back. In the last months the size and the number of nodularities markedly increased, most recently with the appearance of a new lump every other week. These painful swellings had first appeared in the left forearm, with a single lesion progressively increasing in size, but later on similar lesions occurred in the other arm. On examination, multiple, tender and movable subcutaneous nodules with an increased consistency of sizes varying from 0.5–1.8cm were present on both forearms, thighs and lower back. The overlying skin did not show any abnormality but pain was evoked upon palpation with light pressure. The patient described the pain as burning, dull and persistent, slightly reduced during the night, ranging from 5 to 8/10 on a numeric rating scale in the last week. The histologic examination of a nodule of the left forearm showed only adipose tissue. Dercum’s disease (adiposis dolorosa) is a rare disorder of unknown etiology, first described in 1888, characterized by the development of multiple painful nodules of adipose tissue on the trunk and proximal parts of the extremities, most commonly affecting obese postmenopausal women.
Devis Benfaremo, Michele Maria Luchetti, Armando Gabrielli
Clinica Medica, Dipartimento di Scienze Cliniche e Molecolari, Università Politecnica delle Marche, Ancona, Italy
“Based on the present ﬁndings and data from the literature, neurological and neuropsychiatric manifestations, although not speciﬁc, are a relevant and probably under-estimated component of DD. The episode of dizziness followed by left side sensory-motor deﬁcit might have been of vascular origin (namely, a transient ischemic attack), although it is still unclear whether the stroke-like events described in few reports of DD are caused by the condition itself or if their occurrence is merely coincidental. Notably, painful cutaneous lipomatosis has been related to microangiopathy and increased tissue ﬂuid (lipedema),inﬂammatory reactions and ﬁbrosis. Pain in lipedema is thought to result from hypoxia, inﬂammation, and necrosisof adipocytes; on the other hand, hyperbaric compression reduces tissue ﬂuid and improves oxygen saturation, resulting in decreased pain in DD. Accordingly, these changes might represent a risk factor for lipohyalinotic andmicroatheromatous degeneration of the small penetrating cerebral vessels, given their limited caliber. The ﬁnal result may be a modiﬁcation of the local functioning of the striothalamic arterioles in the basal ganglia, eventually leading to ischemic lesions and enlarged perivascular spaces characteristic of microvascular disease. Systemic features of DD also include early onset spondy-loarthropathy, a ﬁnding which is in line with our report and with the occurrence of spine degeneration in DD. Although the etiology of DD is unknown, an inﬂammatory pathomechanism has been proposed, possibly leading to the release of pain-related neuropeptides, as suggested forother chronic pain syndromes. Finally, DD must be differentiated from other conditions including lipomas. Multiple lipomatosis is principally distinguished by large subcutaneous fatty masses, usually not painful, distributed in a symmetrical fashion, more prevalent in non-obese males and often associated with alcoholism. Sometimes,multiple lipomatosis is inherited as an autosomal-dominant trait, then referred to as FML. Benign adipose tissue tumors (solitary or multiple) are isolated subcutaneous tumors of well-differentiated adipocytes, some of which are painful; conversely, malignant cutaneous adipose tissue neoplasms are exceptionally rare and typically not painful.”