A 44-year-old female, a known hypothyroid and depression on regular treatment for 2 and 9 years respectively was ad mitted with complaints of fever(intermittent) with no diurnal variation and not associated with chills and rigor with violaceous discoloration and tenderness of small joints of upper limb and lower limb for 7 days. The tenderness was increasing every day in intensity and aggravated on exposure to cold/low temperatures. The fever responded to antipyretics.

On inquiring, she gave history of dyspeptic symptoms since two months with no history of dysphagia or difficulty in opening mouth, but on visualization microstomia was noted.

On examination, mild pallor present and temperature recorded 99.8 °F. She had edema of upper limb and lower limb small joints with violaceous discoloration and multiple ecchymoses and maculopapular rashes over forearm and lower limb. On palpation tenderness was present as explained above restricting her day-to-day activities and difficulty in getting up from sitting position or holding on to any object due to pain and swelling. Facial skin was taut with pinched up nose.

Physical examination Per Abdomen was normal. Cardiovascular examination was within normal limits. Respiratory system and Nervous system examination provided no abnormal findings.

She was on, Tab. Thyroxine 25mcg 1-0-0, Tab. Oxcarbazepine 150mg 1-0-1, Tab. Chlordiazopoxide + Amitryptaline [25mg/10mg] 0-0-1, Tab. Clonazepam 1mg ½-0-1, Tab. Respirodone + Tri-hexiphenydyl [2mg/2mg] ½-0-1

The above mentioned drugs doesn’t cause any vasculitis.

The management of the patient included, antibiotics, antipyretics, and medications for hypothyroidism were continued. Later the following were added to the management:

Tab. Shelcal 500mg 1-0-1; Inj. Dexamethasone 4mg I.V. 1-1-1 x 6days; Tab. Prednisolone 40mg 1-0-0; Tab. Nifedipine 10mg 1-0-0

The patient was discharged after 9days of hospitalization and is currently on tapering doses of steroids (every five days to 30mg, 20mg,10mg, 5mg) with continuation of Thyroxine and medications as advised by psychiatrist.

The initial history of Raynaud’s phenomenon generalized swelling. Physical examination findings microstomia guided our laboratory and radiologic workup and thereafter helped us to reach the diagnosis.

MCTD is a rare disease with unknown etiology, but few cases have been reported after occupation of vinyl chloride, 3 and even after breast augmentation surgeries. 4 There are familial cases of MCTD with increased instance of HLADR4 compared with controls.

A 2011 Norwegian study showed a 3.8 per 100,000 prevalence of MCTD among adults, with an incidence of 2.1 per million per year. 5 Mean age of onset was 31.9 years and more than three quarters of patients were females. 6 This confirms the rarity of the disease and a predilection for female sex.

MCTD should be kept as a differential diagnosis when overlapping signs of autoimmune diseases are present such as swollen digits, arthralgia, myalgia or muscle weakness, acid reflux or dysphagia, Raynaud’s phenomenon, shortness of breath on activity, a general malaise and fatigue. Many criteria have been described to classify MCTD. Table 1 gives the Alarcon-Segovia’s criteria and Table 2 gives the Kasukawa diagnostic criteria for mixed connective tissue disease. Alarcon-Segovia’s criteria are simple and comprises five clinical manifestations in addition to the serological status. 7

Our patient also followed the Kasukawa diagnostic criteria with both the common symptoms of Raynaud’s and swollen hands being present associated with positive serology and mixed findings of thrombocytopenia.

Myositis clinically presenting as muscle weakness is more common than laboratory increase in muscle enzymes.

Lung function tests, especially the single breath diffusing capacity may be abnormal in many patients but only a small fraction of those are symptomatic. Pulmonary artery hypertension is not common in early MCTD. 8 Pulmonary hypertension, occurring secondary to interstitial lung disease is an increasingly recognized complication.

Membranous glomerulopathy and mesangial proliferative glomerulonephritis are the main renal manifestations. Less common renal manifestations include diffuse proliferative glomerulonephritis, vascular or glomerular sclerosis. It is clinically manifested mainly with proteinuria, rarely with hematuria. 9 Our patient urine examination was within normal limits.

The therapy for MCTD would combine a cocktail of drugs to suppress inflammation including NSAIDS like naproxen, COX-2 inhibitors like celecoxib, steroids such as prednisone, antimalarials (hydroxychloroquine) and immunosuppressants like azathioprine. Nifedipine, nitroglycerin, losartan is used for Raynaud’s phenomenon. TNF blockers etanercept and TNF antibodies infliximab, adalimumab is used in inflammatory arthritis in some cases. So, two people with the same disease but different presentations would require an altogether different management. 10

The use of therapeutic antibodies like rituximab, a CD20 receptor blocker in MCTD have shown benefit in cases of refractory polymyositis and lower CPK. 11

Systemic rheumatologic disease can hide behind rather non-specific and unrelated symptoms and signs. We therefore recommend holding a high degree of suspicion in the susceptible individuals, and always consider the possibility of presence of any autoimmune pathology where needed, because these diseases, as evident from the discussion before, can present with uncommon features and mimic some other trivial conditions initially. But it is always necessary to diagnose early in order to decrease morbidity, and disease related complications. Patient once diagnosed needs to be monitored on regular basis as pulmonary hypertension presents late in the illness when other clinical signs are easily recognizable and should be treated aggressively as most deaths in mixed connective tissue disorders are due to heart failure caused by pulmonary arterial hypertension