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Rare case pictures and presentation

Sundeep Upadhyaya a, Bhowmik Meghnathi b,*a Senior Consultant, Department of Rheumatology, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, IndiabDNB Resident, Department of Rheumatology, Indraprastha Apollo Hospitals, Sarita Vihar, New Delhi, India

Keywords:

Tendon xanthomas

Arthritis

Familial hypercholesterolemia

Musculoskeletal system

Joint pains

* Corresponding author.E-mail address: bhowmikm3@gmail.com

0976-0016/$ e see front matter Copyright ªhttp://dx.doi.org/10.1016/j.apme.2013.11.006

1. A patient with arthralgias and nodularswelling over the knuckles and right Achillestendon

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 2005with

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 tomyocardial 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

(B. Meghnathi).2013, Indraprastha Medic

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.

al Corporation Ltd. All rights reserved.

Fig. 1 e Multiple nodular swellings over the extensor aspect

of therightmetacarpophalangeal jointse tendonxanthomas.

Fig. 2 e Multiple nodular swellings over the extensor aspect

of the left metacarpophalangeal jointse 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).

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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. Familialhypercholesterolaemia is underdiagnosed and undertreatedin the general population: guidance for clinicians to preventcoronary heart disease: consensus Statement of theEuropean 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 ofDermatology. 6th ed. Oxford Blackwell Science Ltd;1998:2600e2613.

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