scholarly journals A case of autoimmune hypothyroidism presented as overlap syndrome of mixed connective tissue disorder

2020 ◽  
Vol 9 (1) ◽  
pp. 290
Author(s):  
Atiullah I. Malik ◽  
Yadav Ponvijaya ◽  
Sachin Shivnitwar ◽  
Anuj Pahuja
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Lupus Erythematosus ◽  
Mixed Connective Tissue Disease ◽  
Raynaud’S Phenomenon ◽  
Raynaud's Phenomenon ◽  
Connective Tissue Disorder ◽  
Autoimmune Hypothyroidism ◽  
Loss Of Appetite ◽  
Mixed Connective Tissue Disorder

Mixed connective tissue disease is a distinct complex overlap disorder characterised by combination of clinical features of systemic lupus erythematosus, systemic sclerosis, polymyositis and rheumatoid arthritis. Higher levels of anti-U1-ribonucleoprotein (anti-U1RNP) antibody has been found in these patients. 39 year old female, known case of hypothyroidism, came with complaints of multiple joint pains with swelling associated with morning stiffness of fingers since last 2 years. She also had dryness of skin, loss of appetite, constipation, difficulty in swallowing and dyspnea on exertion since last 2 months. Considering the joint pains an antinuclear antibody (ANA) was sent. She turned out to be RNP, Sm, Ro 52, Mi-2 positive. Anti-CCP, rheumatoid factors (RA), Raynaud’s phenomenon all were positive. Rheumatologist opinion was taken and she was diagnosed as mixed connective tissue disorder with hypothyroidism. Patient was successfully treated with immunosuppressants and supportive measures and responded well to tablet methotrexate, prednisone, nifedipine and hydroxychloroquine. Our patient had one major and 3 minor criteria: anti RNP antibody positive, Raynaud’s phenomenon, swollen fingers and synovitis. Thus, diagnosed as mixed connective tissue disease.

Connective tissue disease

2019 ◽  
pp. 281-326
Author(s):  
Gavin Spickett
Keyword(s):  
Rheumatoid Arthritis ◽  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Mixed Connective Tissue Disease ◽  
Raynaud’S Phenomenon ◽  
Connective Tissue Diseases ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes

This chapter covers the presentation, immunogenetics, immunopathology, diagnosis, treatment, and testing for a range of connective tissue diseases. It covers a range of rheumatic disorders, from rheumatoid arthritis to Raynaud’s phenomenon, and also covers the undifferentiated diseases, overlap syndromes, and mixed connective tissue disease.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078 ◽  
Author(s):  
Ariane Herrick
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for examplem vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078
Author(s):  
Ariane Herrick ◽  
Michael Hughes
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for example vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

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