J. Raikes, I. Weichert

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Dercums disease (Adiposis Dolorosa) is a rare condition characterised by multiple, ... The twins have a shared medical history of Dercum's disease (adiposis ...
Simultaneous Multiple Pulmonary Emboli in Monozygotic Twins with Dercum’s Disease: A Timely Coincidence? J. Raikes, I. Weichert Department of Acute Medicine, The Ipswich Hospital, Ipswich, Suffolk, United Kingdom

INTRODUCTION Several genetic determinants (mutations or polymorphisms) have been associated with increased risk of venous thromboembolism but the overall influence of genetic factors on this disease is unknown1. A retrospective study by Larson et al in 2003 demonstrated an increase in the relative risk of venous thromboembolism in male monozygotic twins only2. As yet there is no published evidence which supports an intra-twin pair similarity for women. Dercums disease (Adiposis Dolorosa) is a rare condition characterised by multiple, painful lipomas3. The lipomas are typically found on the trunk, upper arms and upper legs. The underlying pathology of the disease is poorly understood, but as yet there has been no recorded association with an increased risk of venous thromboembolic disease.

Table I: Summary of results

TWIN 1

TWIN 2

SYMPTOMS

Shortness of breath on exertion

Duration of symptoms D-Dimer Troponin Transthoracic Echo

4 months

Shortness of breath on exertion 6 months

OBJECTIVES To report a case of two female monozygotic twins, both suffering from Dercum’s disease, presenting at the same time with multiple pulmonary emboli.

CASE REPORT TWIN 1 A 67-year-old woman with a past medical history of Dercum’s disease and Rheumatic fever in childhood presented with a four-month history of shortness of breath on exertion with no chest pain and no symptoms at rest. Multiple lipomas were detected consistent with her underlying chronic condition, but cardiovascular, respiratory, gastrointestinal and neurological examinations were otherwise normal. CXR was normal. D-Dimer was elevated at 3100 and VQ SPECT scanning4 revealed multiple pulmonary emboli (image 1). As per local guidelines, Warfarin was commenced with sub-cutaneous Enoxaparin cover at 1.5mg/kg of bodyweight until the INR was therapeutic for two days. Outpatient investigations looking to identify an underlying cause were unyielding (see table I for summary of results).

TWIN 2 Three weeks later, the patient’s monozygotic twin was admitted with a six-month history of gradually worsening shortness of breath on exertion. The recent admission of her twin sister with symptoms which mirrored her own had prompted the patient to seek medical advice. The patient was otherwise well but also had a diagnosis of Dercum’s disease. Aside from multiple lipomas in line with her past medical history, general examination was unremarkable. Again, CXR was unremarkable and D-Dimer was elevated. VQ SPECT scanning4 demonstrated multiple pulmonary emboli (image 2). Warfarin was commenced with Enoxaparin cover until the INR was therapeutic for two days. Further investigations were performed as an outpatient (see table I). The patient herself had identified a lipoma in the groin area and had raised the suspicion of a pressure effect on the underlying vasculature in this area. In an ultrasound scan the abdominal and pelvic organs appeared normal with no evidence of sinister mass lesions at any site. No mass lesions were seen in the right groin at the site indicated by the patient. The right femoral vein appeared normal.

Image 1: VQ SPECT SCAN TWIN 1

Image 2: VQ SPECT SCAN TWIN 2

VQ SPECT

Full Thrombophilia Screen CARDIOLIPN ANTIBODIES LUPUS ANTIBODIES APCR CEA, CA19.9, CA125, AFP ULTRASOUND SCAN

3100 985 Negative Negative Good LV systolic contractility Good LV function with mild dialstolic dysfunction Mild MR Mild/Mod TR Mild TR RVSP 66-70mmHg Normal RVSP No cardiac lipomas No cardiac lipomas Repeat scan 3 months later showed normal RSVP Multiple focal perfusion defects Large mismatched defect in reflecting multiple pulmonary left mid-zone. Multiple emboli (image 1). pulmonary emboli (image 2). Normal (done by GP prior to diagnosis after her sister was diagnosed) Not detected Not detected Normal Normal Normal abdominal and pelvic scan

Normal abdominal and pelvic scan

As yet there is no evidence to support an increased risk of VTE amongst female twins. Thus, a set of female twins presenting at the same time, with the same condition is extremely rare. Attempts were made to uncover a unifying, underlying diagnosis that could have predisposed thes-e women to developing VTE disease. Blood tests undertaken to investigate the possibility of predisposition towards thrombophilia were negative. Furthermore, tumour markers, which might point towards an underlying malignancy causing a hypercoagulable state, were not raised. The twins have a shared medical history of Dercum’s disease (adiposis dolorosa), which is a rare disorder resulting in painful fatty deposits around the upper legs, trunk, and upper arms. Little is known about the pathological mechanisms of this condition, although it is suspected that there is either a metabolic or autoimmune component involved3. We questioned whether the multiple lipomas seen in Dercum’s disease could increase the likelihood of DVT formation via a direct mechanical effect causing deep venous compression. However, in this case a scan of the abdomen and pelvis was performed which detected no evidence of venous compression. Review of the literature revealed that as yet there has been no recorded association with an increased risk of venous thromboembolic disease.

CONCLUSION This case report describes the concurrent presentation of a pair of female, monozygotic twins with multiple pulmonary emboli. Investigations including blood tests for thromobophila and underlying malignancy, along with radiological imaging looking for evidence of a mechanical cause of DVT secondary to venous compression revealed no underlying cause for the multiple pulmonary emboli in either twin. This case is of clinical interest due to the improbability of a pair of twins presenting at exactly the same time with the same condition, for which no intra-twin increased relative risk has ever been proven, with no identified underlying cause. A case report of this type can only raise questions of associations, and robust studies would be required before any firm conclusions could be drawn.

DISCUSSION The overall influence of genetic factors on VTE remains unknown1. A retrospective study by Larson et al in 2003 used the Danish Twin Registry and Danish National registry of patients to access all hospitalisations in Denmark since 1977. This demonstrated that 678 twins were hospitalised with an episode of VTE. The odds ratio (interpreted as the relative risk of VTE for one twin, given VTE in the partner twin) was 13.5 among monozygotic twins and 3.8 among dizygotic twins2. Interestingly they found differences in genetic susceptibility to venous thromboembolism between the sexes, with genetic factors playing a substantially stronger role in males than in females. The study demonstrated an increase in the relative risk of venous thromboembolism in male monozygotic twins but no intra-twin pair similarity for was observed in women2.

REFERENCES 1 Nordstrom M, Lindblad B, Bergqvist D, et al; A prospective study of the incidence of deep-vein thrombosis within a defined urban population. J Intern Med 1992; 232(2):155160. 2 Larson TB, Sorenson HT, Vaupel JW, et al; Major genetic susceptibility for venous thromboembolism in men: a study of Danish twins. Epidemiology 2003;14(3):328-32. 3 Wortham N, Tomlinson I; Dercum’s disease. Skinmed 2005; May-Jun;4(3):157-62; quiz 163-4. 4 Roach P, Bailey D, Schembri G; Transition from planar to SPECT V/Q scintigraphy: rationale, practicalities and challenges. Semin Nucl Med 2010; 40:397–407

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