Medical Student Corner
Dyspnea

A 27 year old African American male is seen in general medical clinic for the chief complaint of dyspnea, which began suddenly during a basketball game two hours prior.

Symptoms are described as "heavy breathing," and "feels like there isn't enough oxygen."

The patient denies cough, wheezing, fever, night sweats, weight loss, or malaise. There are no other symptoms other than dyspnea and air hunger, except for the sensation of "being detached."

No previous episodes are reported.

He now presents for further evaluation and management.

On exam, he appeared well-developed and well-nourished, but in mild respiratory distress.

Vital signs are significant for a respiratory rate of 35. Blood pressure, pulse, and temperature were unobtainable.

Head & neck, throat, chest, heart, abdomen, and neuro exam are extremely difficult, but are grossly within normal limits.

Laboratory studies, including urinalysis, have not yet been obtained.

A closer physical inspection of the patient reveals the following:

What's going on?

Answer: Spherocytosis

This man most likely has spherocytosis, a condition which is more commonly congenital, but may in some cases be acquired in later life.

The presence of a large sphere completely surrounding and enclosing the patient is pathognomonic for spherocytosis.

Typically, patients will present with dyspnea and air hunger, worse during athletic activities, as the oxygen content inside the sphere is usually limited. Shortness of breath typically reaches its highest level of discomfort shortly after all of the available oxygen has been used up.

It is often difficult to detect the presence of large spheres completely surrounding and enclosing patients with the naked eye alone; in these instances, consultation with a colleague may be helpful.

Treatment involves surgical removal of the sphere, a procedure which offers an excellent chance of full recovery. Recurrence of the sphere, unfortunately, occurs in up to 65% of affected patients.

Refractory chronic spherocytosis is uncommon and should be referred to a spherocytologist as soon as it is diagnosed.