Rare case pictures and presentation


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Rare case pictures and presentation

  1. 1. Rare case pictures and presentation
  2. 2. Rare case pictures and presentation Sundeep Upadhyaya a , Bhowmik Meghnathi b, * a Senior Consultant, Department of Rheumatology, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, India b DNB Resident, Department of Rheumatology, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, India Keywords: Tendon xanthomas Arthritis Familial hypercholesterolemia Musculoskeletal system Joint pains 1. A patient with arthralgias and nodular swelling over the knuckles and right Achilles tendon 1.1. History and background A 37-year-old male, non-smoker, non-diabetic patient, pre- sented to the OPD at Indraprastha Apollo Hospital in 2005 with a history of progressive nodular swellings over the knuckles (metacarpophalangeal joints), right Achilles tendon and both elbows which were associated with joint pains (Fig. 3). There was a swelling around the right ankle (medial aspect) (Fig. 4). The patient had a mildly elevated ESR (30) and came with a presenting diagnosis of sero-negative rheumatoid arthritis and was on methotrexate and NSAID treatment, but to no avail. His family history was unremarkable except for the presence of cardiovascular disease. On further detailed questioning it emerged that the patient’s father died at the age of 33 years due to myocardial infarction. Also his elder brother has had an episode of coronary artery disease-myocardial infarction at the age of 42 years. Although the patient himself had no angina, chest pain, breathlessness, palpitation or edema to implicate any cardiac disease, he had never been evaluated for possible cardiac ailment including ECG, 2D- Echo, Serum lipid profile, etc.1 2. Discussion The patient did not have any gross synovitis of hand joints or knees, but there was a synovial thickening/tenosynovitis of the right ankle. The patient also had multiple tendon xanthomas over the MCP joints and elbows2 giving the appearance of polyarthritis-synovitis (rheumatoid arthritis mimic) to the casual observer. His evaluation at our center revealed the possibility of a metabolic disorder and this was confirmed by the presence of a severely deranged lipid pro- file2 (Total cholesterol > 800) and a strong family history. The absence of 1) polyarthritis, 2) raised inflammatory markers (on repeat testing at our center) and 3) the Rheumatoid Fac- tor, ANA confirmed the diagnosis in this patient. Based on the clinical and laboratory findings, a diagnosis of Familial hypercholesterolemia was made and the patient was treated accordingly. * Corresponding author. E-mail address: bhowmikm3@gmail.com (B. Meghnathi). Available online at www.sciencedirect.com ScienceDirect journal homepage: www.elsevier.com/locate/apme a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 3 7 e3 3 8 0976-0016/$ e see front matter Copyright ª 2013, Indraprastha Medical Corporation Ltd. All rights reserved. http://dx.doi.org/10.1016/j.apme.2013.11.006
  3. 3. 2.1. Key messages A detailed evaluation of the family history in many instances helps us clinch the diagnosis of a musculoskeletal disease. Only a cursory evaluation of the family history would have missed the all-important history of the coronary disease at a remarkably young age afflicting both the parent and the sib- ling. This fact guided us to the workup and screening for a diagnosis of familial hypercholesterolemia in this patient as a cause for the rare set of signs and symptoms. Tendon xan- thomas may be benign or may signify serious underlying derangement of lipid metabolism (Figs. 1 and 2). Conflicts of interest All authors have none to declare. r e f e r e n c e s 1. Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus Statement of the European Atherosclerosis Society. Eur Heart J. 2013 Aug 15 [Medline]. 2. Black MM, Gawkrodger DJ, Seymour CA, Weismann K. Metabolic and nutritional disorders. In: Champion RH, Burton JL, Burns DA, Breathnach SM, eds. Textbook of Dermatology. 6th ed. Oxford Blackwell Science Ltd; 1998:2600e2613. Fig. 1 e Multiple nodular swellings over the extensor aspect oftherightmetacarpophalangealjointse tendonxanthomas. Fig. 2 e Multiple nodular swellings over the extensor aspect of the left metacarpophalangeal joints e tendon xanthomas. Fig. 3 e Extensor aspect of both elbows showing nodular swellings (tendon xanthoma as shown by arrows). Fig. 4 e Prominent swelling over the medial aspect of right ankle (shown by single vertical arrow) and Achilles tendon xanthoma (extent of xanthoma shown by two horizontal arrows). a p o l l o m e d i c i n e 1 0 ( 2 0 1 3 ) 3 3 7 e3 3 8338
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