Case report: SM presents as osteoporosis in male patient

A new study details the case of an SM patient with a rare related symptom.

A rare case of systemic mastocytosis (SM) in a male patient causing secondary osteoporosis was recently published in the Journal of the Endocrine Society. 

“Osteoporosis in men is underestimated and warrants investigation for secondary causes of osteoporosis,” the authors said in the study. “Systemic mastocytosis is a rare secondary cause of osteoporosis.”

The deposition of mast cells in the bone marrow is known to cause osteoporosis in some patients with SM.

Systemic mastocytosis (SM) is a rare hematological disease characterized by mast cells that are overactive and accumulate in different parts of the body such as the bone marrow, liver, spleen, gastrointestinal tract and lymph nodes.

Systemic mastocytosis (SM) is a rare hematological disease characterized by mast cells that are overactive and accumulate in different parts of the body such as the bone marrow, liver, spleen, gastrointestinal tract and lymph nodes.

The case involved a 66-year-old man diagnosed 14 years before with SM and a family history of lung cancer. Clinical manifestations of SM began in the mid-1990s with flushing, skin spots and persistent diarrhea. SM was diagnosed more than a decade later with a bone marrow biopsy. 

After his diagnosis, the patient presented with constant lumbar pain. Bone densitometry revealed osteopenia, which was treated with alendronate. Two years later, the patient stopped alendronate because of adverse and intolerable gastrointestinal effects. 10 years following, a control bone densitometry showed that his spinal osteopenia had progressed into osteoporosis.

Read more about SM signs and symptoms

Since then, the patient has been treated with vitamin D and calcium, and he has begun regular exercise. Close follow-up will determine the need for further treatment. 

SM and osteoporosis

Osteoporosis is less frequent in men than in women, with approximately 10% to 11% of men over the age of 60 presenting it. According to some studies, more than 50% of osteoporosis cases in men are due to underlying diseases such as SM, hypogonadism, alcoholism or chronic glucocorticoid use.

The incidence of osteoporosis as an SM manifestation is unknown as statistics vary significantly among studies, ranging between 28% and 70%. SM is responsible for approximately 0.5% to 3% of all osteoporosis cases in men. 

“This case study highlights the importance of screening for osteoporosis in patients with [SM],” the authors said. “ As this patient was diagnosed with osteopenia at age 53, this case also emphasizes the importance of early screening in both women and men with this rare condition.”