|Year : 2013 | Volume
| Issue : 3 | Page : 203-204
Rare yet treatable: Hypothyroid myopathy (Hoffman's syndrome)
NV Sundarachari1, A Sridhar2, Vijaya P Lakshmi2
1 Department of Neurology, Guntur Medical College, Guntur, Andhra Pradesh, India
2 Department of General Medicine, Guntur Medical College, Guntur, Andhra Pradesh, India
|Date of Web Publication||29-Aug-2013|
FF-5 PG Hostel, Government General Hospital, Guntur - 522 001, Andhra Pradesh
Source of Support: None, Conflict of Interest: None
Hypothyroid myopathy or Hoffman's syndrome is a rare manifestation of a common condition. It's diagnosis is also difficult. We present a case of Hoffman's disease with predominant proximal myopathy and myotonia.
Keywords: Hoffman′s disease, hypothyroid myopathy, myotonia
|How to cite this article:|
Sundarachari N V, Sridhar A, Lakshmi VP. Rare yet treatable: Hypothyroid myopathy (Hoffman's syndrome). J NTR Univ Health Sci 2013;2:203-4
|How to cite this URL:|
Sundarachari N V, Sridhar A, Lakshmi VP. Rare yet treatable: Hypothyroid myopathy (Hoffman's syndrome). J NTR Univ Health Sci [serial online] 2013 [cited 2020 Apr 4];2:203-4. Available from: http://www.jdrntruhs.org/text.asp?2013/2/3/203/117190
| Introduction|| |
Hoffman Syndrome is a rare adult pseudohypertrophic myopathy associated with hypothyroidism, usually autoimmune thyroiditis. These patients present with focal or generalized muscle hypertrophy and other systemic features of hypothyroidism.  There have not been many cases reported in India. We report a typical case.
| Case Report|| |
A 32-year-old male presented with stiffness of legs and weakness of proximal muscles since 1 year. The patient exhibited sparse hair, dry skin, and calf muscle hypertrophy [Figure 1]. Percussion myotonia [Figure 2] was present in all the limbs. There was delayed relaxation of deep tendon reflexes. Serum thyroid stimulating hormone (TSH) (429.51 μIU/mL) and creatine phosphokinase (CPK) levels (5,360 IU/mL) were elevated. Muscle biopsy showed no inflammation or muscular dystrophy. Nerve conduction velocities were normal. Electromyogram (EMG) showed no evidence of myotonia .
Complete blood counts, lipid profile, and liver and renal function tests were normal. Chest X-ray and electrocardiogram (ECG) were normal. Treatment with 200 μg thyroxin per day showed significant improvement in the patient. The follow-up values of TSH and CPK showed return to normal values [Table 1].
| Discussion|| |
Muscle hypertrophy as first presentation of hypothyroidism is quite rare.  Our case showed predominantly myopathy with minimal systemic manifestations of hypothyroidism. There are a few cases reported in India. , Chopra et al., noticed hypertrophy of almost all muscles of body, especially calf and arm muscles.  In our case, there was predominance of arm muscle hypertrophy alone.
Hoffman's disease is a specific, rare form of hypothyroid myopathy, which causes proximal weakness and pseudohypertrophy of muscles, due to connective tissue deposition.  Possible mechanisms for myopathy seen in hypothyroidism include an autoimmune reaction affecting the muscle, infiltration by "myxedema", or a disorder of muscle membrane. It seems most likely that thyroid deficiency affects muscle cells directly. Muscular hypertrophy with muscle stiffness in hypothyroidism is seen in less than 10% of cases. , A serous infiltration of muscle was mentioned only in occasional case reports and was not seen in the biopsy of patient reported here. Thyroxine is well known to have important effects on cell membranes. The serum enzymes may rise to high levels in hypothyroidism, presumably because thyroid deficiency permits leakage across muscle membranes and actual muscle necrosis. 
A very high suspicion of hypothyroid myopathy is necessary to rule out this cause of myopathy. Patients are often misdiagnosed with myotonia, polymyositis, or muscular dystrophies. Stiffness and myoedema on percussion are not features of Duchenne and Becker muscular dystrophy, sarcoidosis, and focal myositis. Histopathology can easily distinguish these disorders. Electric silence is a point in favor of myoedema. It mimicks myotonia on percussion, but myotonic discharges are not seen on EMG.
The key point to stress is the fact that this is a treatable condition and patients with aforementioned conditions should be screened with simple thyroid profile before making the diagnosis of a more treatment resistant condition. Moreover, two or more conditions can sometimes coexist emphasizing the need for thyroid profile.
| Acknowledgements|| |
Departments of General Surgery and Pathology, Government General Hospital, Guntur.
| References|| |
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[Figure 1], [Figure 2]