[Hoffmann syndrome presenting to the emergency department]

Area of Science:

• Endocrinology
• Neurology
• Pathology

Background:

• Hypothyroid myopathy, also known as Hoffmann syndrome, is a rare neuromuscular disorder associated with untreated hypothyroidism.
• It presents with muscle weakness, pain, stiffness, and cramps, often mimicking other myopathic conditions.

Observation:

• A 31-year-old male presented with severe asthenia, myalgia, cramps, and arthralgia.
• Laboratory tests revealed significantly elevated creatine phosphokinase (8102 U/L) and severe hypothyroidism (T4=3.8 pg/ml, T3=1.3 pg/ml, TSH>150 microU/ml).
• Other potential causes of myopathy were ruled out through thorough clinical evaluation and paraclinical examinations.

Findings:

• Treatment with thyroid hormone replacement therapy (75-175 microg) resulted in a rapid and significant improvement in clinical symptoms.
• The case demonstrates the direct link between severe hypothyroidism and myopathic symptoms.

Implications:

• Early diagnosis and treatment of hypothyroidism are crucial for managing hypothyroid myopathy and preventing long-term complications.
• Understanding the underlying pathophysiology and potential etiologies of hypothyroidism is essential for determining prognosis and guiding therapeutic strategies.
• This case emphasizes the importance of considering endocrine disorders in the differential diagnosis of unexplained myopathies.