50-year-old, female with both small and large joint pain in hands progressed to hip and minimal swelling 

Discussion of the case

The 50-year-old, female patient had both small and large joint pain, which was additive in nature with minimal swelling. No deformities and restrictions of activities were observed initially. Her history revealed the occurrence of low-grade backache and stiffness from the past three years, but no swollen or tender joints. She had angina pectoris and was managed on aspirin and atorvastatin. The clinical investigations demonstrated a positive ANA with RNP/Sm and Scl- 70 borderline positivity. Other inflammatory parameters were normal. X-ray of the hand showed minimal juxta-articular osteoporosis and sclerotic changes in DIP and PIP, but no erosions were noted. X-ray of the cervical spine indicated degenerative changes with minimal osteoporosis and severe mandible attrition with the dropped molar tooth.

The possible differential diagnoses include degenerative arthritis, connective tissue disease, and rheumatoid arthritis. Since the patient had stiffness and limitation in movement, other causes of an extrapyramidal syndrome like Parkinson’s should be considered. Considering the joint pain and X-rays of the hand and neck showing degenerative changes, it is necessary to consider the possibilities of osteoarthritis primarily. The patient's age (50 years) does support the diagnosis.

Though the patient had a positive ANA profile with RNP positivity, no skin or other organ changes specific to connective tissue disease were noted. Since the inflammatory arthritis symptoms were present, the possibility of undifferentiated connective tissue disease (UCTD) cannot be ruled out. To classify the disease as UCTD, the patient should fulfill the criteria proposed by Mosca et al.¹

The criteria include:

• Signs and symptoms suggestive of CTD, but do not fulfill the criteria for a defined CTD.
• The presence of ANA.
• A disease duration of at least 3 years.

UCTD is marked by a mild clinical presentation and the absence of specific manifestations specific for any major CTDs like erosive arthritis or pulmonary fibrosis.^{2, 3} The common manifestations of a stable UCTD frequent include arthralgia, arthritis, Raynaud's phenomenon, mucocutaneous involvement, sicca symptoms, and leukopenia.^3,4 In the present case, the disease duration is of more than 3 years. The presence of non-erosive arthritis and ANA positivity suggest a probable diagnosis of UCTD.⁵.

The stiffness in walking and X-rays favor the diagnosis of osteoarthritis, but the absence of other typical findings in joints and the presence of tremors at rest suggest the presence of the extrapyramidal syndrome. The patient had ischemic heart disease, as suggested by her history of angina. Based on these findings, the possibility of the extrapyramidal syndrome including early Parkinson’s disease was considered. MRI of the brain was normal.

Final Diagnosis

Osteoarthritis, UCTD, and Parkinson’s disease with ischemic heart disease (IHD)

Follow-up

• Mobility improved with an anti-Parkinson drug.
• The pain and inflammatory parameters settled with hydroxychloroquine treatment.
• Exercise and physiotherapy assisted to improve her quality of life.

Learning points

• The complaints like stiffness and pain, especially in the elderly, should be closely evaluated. Parkinson’s and other extrapyramidal syndromes may mimic these symptoms.
• Presence of tremors may be one of the clues for diagnosing extrapyramidal syndrome.
• The probability of associated osteoarthritis and UCTD should be considered.

References

1. M. Mosca, R. Neri, S. Bombardier. Undifferentiated connective tissue diseases (UCTD): A review of the literature and a proposal for preliminary classification criteria. Clin Exp Rheumatol. 1999; 17: 615-620.
2. Mosca M Et al. Undifferentiated connective tissue diseases: the clinical and serological profiles in 91 patients followed for at least 1 year. Lupus. 1998; 7: 95-100.
3. Danieli MG, Fraticelli P, Francistown F, Castanet R, Farsi A, Passaleva A, et al. Five-year follow-up of 165 Italian patients with undifferentiated connective tissue diseases. Clin Exp Rheumatol. 1999 ;17(5): 585–591.
4. Alarcon GS, Williams GV, Singer JZ, Steen VD, Clegg DO, Paulus HE, et al. Early undifferentiated connective tissue disease. I. Early clinical manifestation in a large cohort of patients with undifferentiated connective tissue diseases compared with cohorts of well-established connective tissue disease. J Rheumatol. 1991; 18(9): 1332–1339.
5. Mosca M, Tani C, Bombardier S. A case of undifferentiated connective tissue disease: is it a distinct clinical entity? Nat Clin Pract Rheumatol. 2008; 4(6): 328–332.