INTRODUCTION
Madelung’s disease, known as multiple symmetric lipomatosis or Launois Bensause
syndrome, was described by the Englishman Sir Benjamin Brodie for the first time
in 1846 as a diffuse concentration of fat in the cervical region. In 1888, Otto
Madelung published the first case series with 33 patients; from then on, the
disease began to be discussed more. It is characterized by the diffuse
symmetrical accumulation of adipose tissue, with slow tumor growth and
progressive increase1.
The etiology of the syndrome remains uncertain, but it appears to be related to
the chronic use of alcoholic beverages and alterations in the MFN2 genes, which
interfere with the metabolism of leptin and adipokines, and the LIPE gene, which
acts on key hormones for triglyceride metabolism2, 3. Computed tomography is
the main method for diagnosis, preoperative staging, and postoperative
monitoring of patients. The tomographic characteristic of the disease is the
distribution of non-encapsulated and homogeneous lipomatous tissue, with
imprecise limits and no cleavage plane with the adjacent subcutaneous
tissue4.
Just as the etiology is unknown, definitive therapeutic measures have not yet
been established, only palliative forms, such as dermolipectomy and liposuction,
are used to improve the patient’s quality of life, since it is a disease that in
most cases is asymptomatic, but with important aesthetic changes1.
The treatments performed seek to stabilize comorbidities and improve the
aesthetic appearance, which negatively impacts the quality of life of patients,
especially due to the recurrence of tumors5. Therefore, the objective of this study is to describe the case of
a patient with Madelung syndrome, reporting the conduct and therapeutic
management used to treat changes in the underlying disease.
CASE REPORT
VS.G., 42 years old, male, was seen at the plastic surgery outpatient clinic of
Hospital das Clínicas, in Recife, PE, in February 2022, with a diagnosis of
Madelung’s disease. He reports stopping alcohol intake for 2 years, without
comorbidities and use of medication. Furthermore, he underwent a biopsy in May
of the previous year compatible with lipoma. On physical examination, large
masses of elastic consistency were found around the neck and supraclavicular
region (Figure 1).
Figure 1 - Pre-operative lipectomy and liposuction.
Figure 1 - Pre-operative lipectomy and liposuction.
The therapeutic proposal was liposuction with the removal of the tumor in three
surgical stages. The requested cardiological opinion indicated intermediate risk
but without contraindication to surgery. The 1st stage consisted of liposuction
associated with left anterior cervical lipectomy (Figure 2). On the 4th postoperative day (POD) of the 1st surgical
procedure, the patient was asymptomatic and presented with bruises and
peripheral edema in the cervical surgical wound (SW) and drain output of less
than 30ml. On the 26th POD, the patient reported hardening of the operated area,
without other complaints.
Figure 2 - Immediate postoperative period of the 1st surgical stage of
lipectomy and left anterior liposuction.
Figure 2 - Immediate postoperative period of the 1st surgical stage of
lipectomy and left anterior liposuction.
Six months after the first surgical stage, the 2nd surgical stage was performed,
which consisted of a lipectomy on the left side of the neck and face and dorsal
region (Figure 3). On the 5th POD, the
patient was asymptomatic, but with a large amount of seroma in the drain, which
resolved spontaneously by the 15th POD. Three months after the second surgical
procedure, the patient presented discreetly hypertrophic and hyperchromic
scars.
Figure 3 - Immediate postoperative period of the 2nd surgical stage of
lipectomy and left posterior liposuction.
Figure 3 - Immediate postoperative period of the 2nd surgical stage of
lipectomy and left posterior liposuction.
The 3rd surgical stage was scheduled 5 months after the 2nd stage, to perform
liposuction with right cervical lipectomy (Figure 4). On the 1st POD, the patient denied pain, fever, and sensory and
motor changes in the region ipsilateral to the procedure.
Figure 4 - Late postoperative appearance 4 months after the 3rd
surgery.
Figure 4 - Late postoperative appearance 4 months after the 3rd
surgery.
He also presented with the presence of edema and ecchymosis lateral to the scar
and content of the serohematic drain <20ml, but progressing with a healed and
good-looking OF. On the 12th POD, the patient presented with SW with
well-coopted edges and no pain on mobilization but still presented ecchymosis
lateral to the scar and slight edema on palpation but without evidence of
infection. The final appearance of the late postoperative period of 4 months
after the 3rd surgical stage can be seen in Figure 4.
DISCUSSION
In this study, the reported patient fits the classic profile of the syndrome: a
45-year-old man with an alcoholic past. Madelung’s disease is characterized by
predominantly affecting middle-aged male patients with a history of alcoholism.
However, cases in non-alcoholic women can occur. Furthermore, the main
comorbidities associated with the disease are nephropathy, hepatopathy, and
metabolic abnormalities6. The only
comorbidity reported by the patient was a history of hepatic steatosis.
The disease does not usually present with painful symptoms. In this case, the
patient’s main complaint was aesthetic as it affected areas of high exposure.
Initially, Hugo and Conway classified diffuse symmetric lipomatosis as
predominantly on the trunk and thighs; and predominantly cervical, as described
by Madelung. A decade later, benign lipomatoses were classified into 3 clinical
groups by Carlsen and Thomnsen: congenital diffuse lipomatosis (Type 1),
symmetric diffuse lipomatosis (Type 2), which the reported patient falls into,
and multiple lipomatosis (Type 3).
However, this classification is not quite accurate. More recent studies have
already classified the syndrome into two distinct types: type I, more common in
men and which generally manifests itself through a symmetrical distribution of
superficial fat deposits, giving a “pseudo-athletic” appearance and possibly
causing compression symptoms; and type II, which affects both men and women,
presenting in a similar way to generalized obesity7.
The use of alcoholic beverages can influence or worsen the condition. In this
case, the patient had already stopped drinking alcohol 2 years ago and did not
return after surgery, which was beneficial for postoperative recovery. From a
histological point of view, in Madelung’s disease, the adipocytes found in fatty
masses are smaller, and there is a greater presence of fibrous and vascular
tissues than normal7. Loss of large
myelinated cells is also observed, although demyelination or axonal degeneration
associated with chronic alcohol consumption does not occur. After surgery, the
risk of recurrence is reduced by abstaining from alcohol. Some lifestyle changes
that improve blood sugar levels and lipid control can prevent the growth of fat
masses but do not reduce their size.
Some studies have demonstrated good long-term results in non-invasive techniques
such as intralipotherapy, in which the mass is injected with
phosphatidylcholine/deoxycholate. Intralipotherapy limits the growth of adipose
masses but is not highly effective in reducing their volume8. Therefore, in this patient, surgery was the therapeutic
technique of choice.
The combination of cervical lipectomy associated with liposuction demonstrated
satisfactory results in the management of our patient. Among the techniques of
choice, lipectomy is the most commonly used therapeutic option, as allows
satisfactory exposure and complete removal, with good control of iatrogenic
injuries to nearby structures, especially vessels and nerves8. Despite this, lipectomy is not
technically easy, because lipomas are not encapsulated and easily infiltrate the
surrounding tissue9.
A disadvantage of lipectomy is the increased rate of surgical complications, such
as infections, hemorrhages, hematomas, lymphatic fistulas, and pathological
scarring9,10. Our patient developed a hematoma and a
postoperative seroma, but it resolved shortly afterward, leaving no sequelae.
Despite having discreet unsightly scars, the patient reported a great
improvement in quality of life after removal of the lipoma.
One study looked at 95 patients with Madelung syndrome treated with lipectomy
and/or liposuction. Of those who underwent lipectomy alone (n=74), the relapse
rate was 5%. Among those who performed both techniques (n=16), the rate was
12.5%. However, the sample population is different between groups and there are
no randomized studies comparing combined and isolated techniques. Liposuction is
less traumatic and has better aesthetic results than surgery. However, there is
little clinical experience with liposuction in this group of patients, and it is
an adjuvant therapy in many cases6. In
this study, the combination of techniques proved to be favorable in the
patient’s therapy, not resulting in recurrences to date.
CONCLUSION
The combination of cautious liposuction followed by serial lipectomy is
beneficial, increasing the safety of the management of cervical structures and
preserving the vascularization of the flaps. Furthermore, the combination of
techniques allows for a higher quality aesthetic result, guaranteeing the
patient a better quality of life.
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1. Hospital das Clínicas da Universidade Federal de Pernambuco, Recife, PE, Brazil
2. Faculdade Pernambucana de Saúde, Recife, PE, Brazil
3. Universidade Federal de Pernambuco, Recife, PE, Brazil
Corresponding author: Pedro Henrique de
Araújo Silva Avenida Prof. Moraes Rego, 1235, Recife, PE, Brazil. Zip Code: 50670-901, E-mail: henrique2_araujo@hotmail.com
Article received: September 8, 2023.
Article accepted: April 30, 2024.
Conflicts of interest: none.
Institution: Hospital das Clínicas da Universidade Federal de Pernambuco, Recife, PE, Brazil.
