Hoffmann’s Syndrome- A Rare Form of Hypothyroid Myopathy
Varying manifestations of hypothyroidism are seen in clinical practice. Patients with hypothyroidism can present with mild fatigue or life- threatening myxoedema coma. Hypothyroidism may present as Hoffmann’s Syndrome (HS), which is a rare form of hypothyroid myopathy. HS occurs in adults and is characterized by the presence of hypothyroidism, pseudohypertrophy of muscles and varying degrees of muscle weakness [1,2]. Few cases of HS have been reported from India. We hereby report a case of HS from southern India.
A 45-year-old male, manual labourer by occupation presented to the Department of Medicine for evaluation of pedal oedema of nine months duration. He also gave history of swelling of face of nine months duration. On examination he had macroglossia and periorbital oedema. His pulse was 84/min, BP-120/70 mm Hg. There was no thyroid enlargement. His calf muscles were hypertrophied bilaterally with non-pitting oedema over the ankles [Table/Fig-1]. On neurological examination he had mild proximal lower limb muscle weakness (power 4/5) and deep tendon reflexes were sluggish. Systemic examination was normal.
Hypertrophy of calf muscles of both the lower limbs.
Thyroid profile report revealed, Thyroid Stimulating Hormone (TSH) was 292.1 μIU/ml (0.2-4.2), T4- 0.922 μg/dl (5–14) and T3- 0.195 ng/ml (0.8–2). Creatine Phosphokinase (CPK) was 9594 U/L (85–170). Electromyography (EMG) was suggestive of a myopathic disorder. Thyroid peroxidase antibody was not done in view of financial constraints and our patient refused muscle biopsy. He was treated with levothyroxine 50 μg. He was lost to follow up.
There are four subtypes of myopathy associated with hypothyroidism: Kocher-Debre- Semelaigne syndrome, HS, atrophic form and myasthenic syndrome . Muscular pseudohypertrophy is a key feature of HS. Muscle pseudohypertrophy in HS is probably due to deposition of glycosaminoglycans and increased muscle fibre size [1,2]. The muscles commonly involved are the tongue, arm and leg muscles [2,3]. Calf muscles (gastrocnemius) are usually involved but generalized hypertrophy can occur [2,4]. When such an entity occurs in children it is known as Kocher-Debre-Semelaigne syndrome. Differential diagnosis for calf muscle hypertrophy are muscular dystrophy (Duchenne, Becker), sarcoid granulomas, amyloid and focal myositis [2,3,5]. The indexed patient had elevated TSH with pseudohypertrophy of calf muscles so a diagnosis of HS was made. The cause of hypothyroidism in HS is usually primary (Hashimoto thyroiditis) [3,6]. Secondary hypothyroidism can rarely present as HS . Muscle biopsy is usually not required to confirm the diagnosis [2,5]. Muscle MRI may be help in the diagnosis of HS . HS carries good prognosis once treatment is started and, the muscle enlargement usually regresses with time [2,4,5]. In some cases muscular hypertrophy may persist . [Table/Fig-2] showing the similar case reports on HS published in literature [4,6-12].
Case reports about Hoffmann’s syndrome published in the last decade.
|Nalini A et al., ||2014||Long duration of illness on presentation and generalized muscular hypertrophy|
|Kumar H et al., ||2016||Hoffman’s syndrome due to Sheehan syndrome|
|Qureshi W et al., ||2005||Persistence of muscular hypertrophy despite treatment|
|Ahmed GS et al., ||2014||Hoffman’s syndrome with acute kidney injury|
|Kiran HS et al., ||2011||Typical Hoffman’s syndrome|
|Mangaraj S et al., ||2014||Typical Hoffman’s syndrome|
|Sundarachari NV et al., ||2013||Typical Hoffman’s syndrome|
|Lee KW et al., ||2015||Typical Hoffman’s syndrome|
|present case||2017||Typical Hoffman’s syndrome|
Hypothyroidism is a common endocrine disease. Sometimes uncommon manifestation of a common disease is encountered in routine practice. HS is a classic example for this, so clinicians should be aware of this rare disorder. Serum TSH must be done in all patients presenting with any degree of weakness and muscular hypertrophy to rule out HS as it has a better prognosis when compared to other causes of muscle hypertrophy.
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