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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 27  |  Issue : 3  |  Page : 464-467

Acquired partial lipodystrophy: An atypical presentation with therapeutic challenge


Department of Oral Medicine and Radiology, Panineeya Mahavidyalaya Institute of Dental Sciences and Research Centre, Hyderabad, Telangana, India

Date of Submission19-May-2015
Date of Acceptance14-Nov-2015
Date of Web Publication25-Nov-2015

Correspondence Address:
Komali Garlapati
Department of Oral Medicine and Radiology, Panineeya Mahavidyalaya Institute of Dental Sciences and Research Centre, Road No. 5, Kamala Nagar, Dilsukhnagar, Hyderabad - 500 060, Telangana
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.170488

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   Abstract 

Lipodystrophy is regarded as a functional disturbance of the hypothalamus. Typically, face is the first part to be affected, and its aspect in an advanced case is characteristic: hollowed temples, prominent zygomatic bones, and sunken cheeks. When the patient smiles, numerous wrinkles appear in the cheeks, giving the appearance of premature senility. Here is a report of a rare case of partial lipodystrophy with an atypical presentation which had alarmingly affected the patient's appearance. Our main purpose of presenting this rare case in oral medicine is an attempt to educate oral physicians about lipodystrophy and increase awareness about the presence of subtle forms that may be underdiagnosed.

Keywords: Acquired partial lipodystrophy, gynecological and menstrual abnormalities, pregnancy


How to cite this article:
Garlapati K, Rembers A, Dara B, Boringi M. Acquired partial lipodystrophy: An atypical presentation with therapeutic challenge. J Indian Acad Oral Med Radiol 2015;27:464-7

How to cite this URL:
Garlapati K, Rembers A, Dara B, Boringi M. Acquired partial lipodystrophy: An atypical presentation with therapeutic challenge. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2020 Dec 3];27:464-7. Available from: https://www.jiaomr.in/text.asp?2015/27/3/464/170488


   Introduction Top


Lipodystrophy is regarded as a functional disturbance of hypothalamus. [1] Ovarian dysfunctions, subfertility, and polycystic ovarian syndrome (PCOS) have also been reported. [2] Typically, face is the first part to be affected, and its aspect in an advanced case is characteristic: hollowed temples, prominent zygomatic bones, and sunken cheeks. [1] When the patient smiles, numerous wrinkles appear in the cheeks, giving the appearance of premature senility. In addition, the eyes may be deep-set through loss of the orbital fat. [3] Here is a report of a rare case of partial lipodystrophy with an atypical presentation which had alarmingly affected the patient's appearance.


   Case Report Top


A 44-year-old female patient presented with a complaint of sunken cheeks. Patient was apparently normal till the age of around 25 years [Figure 1], but noticed gradual thinning of face with loss of fullness of cheeks over a span of 18 years. Her past history revealed that she had received treatment for tuberculosis before her wedding, i.e., at 19 years of age. Also, it revealed spontaneous miscarriage during her third pregnancy 18 years back and repeated history of gynecological problems such as dysmenorrhea. Of late, she started having menorrhagia with prolonged menstrual cycle, for which she is on treatment. She visited several hospitals for the treatment of her unesthetic facial condition and was diagnosed with partial lipodystrophy, for which she was advised cosmetic surgery, but could not undergo treatment due to financial constraints. Hence, she visited our hospital for a second opinion regarding the treatment.
Figure 1: Normal appearance of patient at the age of around 25 years

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On examination, she was of average build with height 155 cm, weight 64 kg, and BP 122/80 mmHg, and had emaciated features of the face due to excessive sunken cheeks [Figure 2] and [Figure 3] to the extent of visibility of zygomaticus major muscle as a taut band extending from zygomatic arch into the cheek region and there was wrinkling of skin surrounding the mouth on smiling, with generalized loss of fat from the facial region giving the appearance of premature senility. General physical examination and intraoral examination did not reveal any other abnormality. Hence, a tentative diagnosis of acquired partial lipodystrophy (APL) was made. Differential diagnoses of HIV-related lipodystrophy, facial atrophy associated with autoimmune and other systemic disorders were considered.
Figure 2: Present frontal view of face with excessive sunken cheeks

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Figure 3: Present lateral view of face showing sunken cheeks with taut zygomaticus major muscle

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Patient's orthopantomograph (OPG) [Figure 4] did not reveal any abnormal findings except for missing 18, 28, 38, and 48. To rule out the association of any systemic disease, patient was subjected to further investigations. Except for microcytic hypochromic anemia with leukocytosis, the blood picture was normal. Reports of real-time polymerase chain reaction (PCR) for tuberculosis, sputum for acid-fast bacilli, and antinuclear antibody were negative. Lipid profiles, liver and renal function tests, random blood sugar, and thyroid profile were also normal. ELISA test for HIV was negative. Ultrasound (US) abdomen revealed anteverted uterus that was bulky in size with altered echo texture and no mass lesions and thickened endometrium measuring 15 mm with simple small left ovarian cyst. Hence, the patient was given iron supplements and was referred to a gynecologist. Since surgery is the best option for APL, patient was counseled and convinced to undergo the same.
Figure 4: OPG revealing missing 18, 28, 38 and 48

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   Discussion Top


Lipodystrophy is a rare, heterogeneous group of syndromes characterized by complete or partial loss or absence of subcutaneous adipose tissue. [4],[5],[6] It is often, though not always, accompanied by metabolic derangements, including insulin resistance, diabetes mellitus, hepatic steatosis, and dyslipidemia. Other manifestations include PCOS, acanthosis nigricans (due to severe insulin resistance), and eruptive xanthomas (due to severe hypertriglyceridemia). [4],[5],[6] Lipodystrophy syndromes have attracted the curiosity of researchers because adipose tissue has been found to secrete a variety of cytokines/hormones such as leptin, adiponectin, and resistin. [5],[7] Further attention was attracted to the field of lipodystrophy in 2002, when the treatment effect of recombinant human leptin (metreleptin) was first reported in several severe cases of lipodystrophy. [8] Many acquired generalized/partial lipodystrophy patients still escape the attention of physicians and are diagnosed late in the course of their disease. Lipodystrophy is such a rare condition where evidence base is generally less robust. [5]

APL or Barraquer-Simons syndrome patients typically develop loss of subcutaneous fat during childhood or adolescence, though onset as late as the fourth or fifth decade of life has been reported. Approximately 250 cases have been reported in USA since the recognition of this syndrome. It is a rare syndrome with no known prevalence, although it is more common than the generalized form of acquired lipodystrophy (Lawrence syndrome). [9],[10],[11] It is characterized by progressive loss of subcutaneous fat over months to years from the face, neck, arms, thorax, and upper abdomen. [9] It typically progresses in cephalocaudal fashion with sparing of the lower extremities, although the exact pattern of fat loss can vary. Some patients may have excess fat accumulation over the lower abdomen, gluteal region, and legs. Metabolic complications are less common with APL than with other subtypes. The main cause of morbidity appears to be chronic renal disease (especially membranoproliferative glomerulonephritis). It is also associated with a number of autoimmune diseases, including dermatomyositis and systemic lupus erythematosus. It is more common in women than in men (estimated 4:1 ratio). [9]

Our patient reported with abnormalities related to pregnancy, menstruation, and loss of facial fat from both cheeks and neck region without much loss of fat caudally. Her investigations revealed anemia with no association of endocrine abnormalities or autoimmune disorders or family history, except for her US abdomen and pelvis scan which revealed endometrial thickening and small left ovarian cyst. Moreover, she developed this condition during the second decade, with atypical loss of fat from the facial region, which has not been reported in the literature. Hence, we provisionally diagnosed the case as atypical APL. She was counseled and advised for cosmetic surgery with fat transplantation. Our main purpose of presenting this rare case in oral medicine is an attempt to educate oral physicians about lipodystrophy and increase awareness about the presence of subtle forms that may be underdiagnosed and the need of a comprehensive evaluation and treatment plan to restore facial esthetics. Educating patients about the disease and its associated complications is very important. In general, treatment for APL is limited to cosmetic surgery (fat transplant), dietary or medical options. Currently, no effective treatment exists to halt the progression of lipodystrophy. Metreleptin, a recombinant analog of human leptin, has recently been approved to treat the metabolic derangements. [10] The best approach is to individualize the treatment options based on the patient's condition and requirements. Pharmacologic intervention is limited in this syndrome. [10]


   Conclusion Top


In conclusion, atypical APL in association with menstrual and gynecological abnormalities can psychologically cripple patients, as it gives a premature senile appearance. Hence, knowledge of this condition and also development of economical comprehensive treatment for these patients helps them to lead a confident life.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
   References Top

1.
Ellis J. Progressive lipodystrophy. Br Med J 1956;4962:313-9.  Back to cited text no. 1
    
2.
Pahuja I, De P, Sharma N, Kulshreshtha B. Polycystic ovarian syndrome in patients with lipodystrophy: Report of 2 cases with review of literature. Indian J Endocrinol Metab 2012;16:1022-5.  Back to cited text no. 2
    
3.
Huang-Doran I, Sleigh A, Rochford J, Rahilly S, Savage DB. Lipodystrophy: Metabolic insights from a rare disorder. J Endocrinol 2010;207:245-55.  Back to cited text no. 3
    
4.
Chan JL, Oral EA. Clinical classification and treatment of congenital and acquired lipodystrophy. Endocr Pract 2010;16: 310-23.  Back to cited text no. 4
    
5.
Handelsman Y, Oral EA , Bloomgarden ZT, Brown RJ, Chan JL, Einhorn D, et al.; American Association of Clinical Endocrinologists. The clinical approach to the detection of lipodystrophy - An AACE consensus statement. Endocr Pract 2013;19:107-16.  Back to cited text no. 5
    
6.
Garg A. Clinical review#: Lipodystrophies: Genetic and acquired body fat disorders. J Clin Endocrinol Metab 2011;96:3313-25.  Back to cited text no. 6
    
7.
Kershaw EE, Flier JS. Adipose tissue as an endocrine organ. J Clin Endocrinol Metab 2004;89:2548-56.  Back to cited text no. 7
    
8.
Chong AY, Lupsa BC, Cochran EK, Gorden P. Efficacy of leptin therapy in the different forms of human lipodystrophy. Diabetologia 2010;53:27-35.  Back to cited text no. 8
    
9.
Capeau J, Magré J, Lascols O, Caron M, Béréziat V, Vigouroux C, et al. Diseases of adipose tissue: Genetic and acquired lipodystrophies. Biochem Soc Trans 2005;33:1073-7.  Back to cited text no. 9
    
10.
Haque WA, Shimomura I, Matsuzawa Y, Garg A. Serum adiponectin and leptin levels in patients with lipodystrophies. J Clin Endocrinol Metab 2002;87:2395.  Back to cited text no. 10
    
11.
Misra A, Peethambaram A, Garg A. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature. Medicine (Baltimore) 2004;83:18-34.  Back to cited text no. 11
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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