Madelung’s disease: long-term follow-up

Abstract

Madelung’s disease (MD) is a rare lipid metabolic disorder of adipose tissue overgrowth, which has been reported to be related to alcohol abuse. Although it does not affect survival itself, alcoholism and metabolic disorders associated with MD can be life-threatening. Although surgical procedures and classifications have been reported, long-term follow-up has rarely been reported. Here, we report a 61-year-old Japanese man with MD who has been followed-up for 12 years. Lipectomy was performed three times over the first 3 years and a total of 4 kg of adipose tissue was excised. Relapse has not been observed. He was diagnosed with multiple hepatocellular carcinomas (MHC) and placed on dialysis due to hepatorenal syndrome caused by alcoholism. Moreover, one of the MHC ruptured resulting in hemorrhagic shock. The cause of death in MD is not fat proliferation but comorbidities. Long-term observation and multidisciplinary systemic management are necessary for MD patients.

Madelung’s Disease Evolving to Liposarcoma: An Uncommon Encounter

“…We found no clear evidence that BSA directly impacts life expectancy, but long-term follow-up studies showed high rates of incidences of somatic neuropathy and sudden death due to fat occupation in the mediastinal space [30,31]. In a 12-year follow-up study of one patient, Suito et al reported death from hemorrhagic shock due to hepatocellular carcinoma and hepatorenal syndrome, although they found no recurrence of fat masses [32].…”

“…BSA can be associated with neuropathies; myopathies; reduced deep tendon reflexes; paresthesia; hypothalamic and pituitary lesions; neuroendocrine syndromes; sudden death; autonomous nervous system dysfunctions; myoclonic epilepsy with ragged red fibers (MERRF); and carotid compression [11,17,[32][33][34][35]. Other associated manifestations include liver failure; metabolic syndrome; altered glucose tolerance; dyslipidemia; lipodystrophy; and obesity-most patients are overweight, while around 10% of the cases have normal weight [25][26][27]32,33]. Hypercholesterolemia, hypothyroidism, and hyperinsulinemia and insulin resistance, (comorbidities often found in BSA patients), suggest a possible link to metabolic diseases [27,36,37].…”

Multidisciplinary diagnostic dilemma in differentiating Madelung’s disease — the value of superb microvascular imaging technique: A case report

“…Patients with Madelung’s disease need long-term observation and multidisciplinary systemic management of comorbidities[ 27 ]. It is also important to observe these patients due to disease relapse, the need for re-operation, and possible liposarcoma by ultrasonography.…”

A case report of Multiple Symmetric Lipomatosis (MSL) in an East Asian Female

“…The morphologic features of this patient's mass corresponded to type Ib, based on the presence of a mass in the posterior neck region and both shoulders [26] ( Table 2). The direction in which adipose tissue spreads is not yet clear [27]. Frequently, lipoma distribution around neck occurs in patients with MSL.…”

“…Evidence that MSL is directly related to life expectancy is not clear, but a long term follow-up study showed incidences of somatic neuropathy and sudden death due to fat occupation in mediastinal space [31]. Motomu et al's 12-year follow-up study of one patient found no recurrence of mass, but the patient died of hemorrhagic shock due to hepatocellular carcinoma and hepatorenal syndrome [27]. Fonseca et al reported the presence of neuropathy in about 85% of patients with MSL and an association with sudden cardiac death [17].…”