Rare Systemic Mastocytosis: A Hidden Cause of Bone Loss

A rare case of severe osteoporosis in a 23-year-old man led to a surprising diagnosis: systemic mastocytosis (SM).

The rare case of a 23-year-old male with extensive bone loss and spinal fractures was reported by Areti Kalfoutzou and colleagues from the 251 Air Force General Hospital and other medical facilities in Greece ().

Systemic mastocytosis (SM), a rare blood illness that causes particular immune cells, called mast cells, to accumulate in several places of the body, was the unexpected diagnosis made after more testing. This study demonstrates how SM can go misdiagnosed and could be a covert factor contributing to young adults' inexplicable osteoporosis.

Mastocytosis - Types, Causes, Symptoms, Diagnosis, Treatment and Prognosis
Mastocytosis is a rare condition marked by accumulation of mast cells under the skin and various organs in the body. Clinical features depend on site affected and treatment is based on specific symptoms in each person.

‘Think osteoporosis is just for the elderly, a young patient with no trauma history was diagnosed with systemic mastocytosis after multiple spinal fractures. #BoneLoss #medindia’

Systemic Mastocytosis Presenting with Severe Osteoporosis

Systemic mastocytosis impairs the digestive tract, liver, and bone marrow. It may result in severe allergic reactions, digestive issues, and easily broken, brittle bones. When evaluating patients with osteoporosis, many professionals do not initially take this condition into account, which causes delayed diagnoses.

The patient in this instance sought medical assistance due to unexpected back pain and walking difficulties. Even though there was no history of trauma, imaging tests showed significant osteoporosis and many spinal fractures.

High amounts of tryptase, a chemical associated with mast cell activation, were detected in blood testing. SM was verified by a bone marrow biopsy. But unlike most cases, this patient's condition was considerably unusual because he did not have the typical mutation in the D816V KIT gene.

About Lifestyle and Osteoporosis
Encyclopedia section of medindia briefly explains about Lifestyle and Osteoporosis

Importance of Early Detection in Systemic Mastocytosis

To strengthen his bones, the patient was treated with zoledronic acid, a bone-strengthening medication, and started on avapritinib, a targeted therapy designed to reduce mast cell growth.

His treatment required careful planning, as he also had multiple sclerosis and glucose-6-phosphate dehydrogenase (G6PD) deficiency, complicating the selection of appropriate medications.

Diet for Osteoporosis
The diet for osteoporosis includes bone-strengthening foods like dairy products, fish, fruits, and vegetables, along with adhering to a healthy lifestyle.

While osteoporosis is typically associated with aging, its presence in young adults without clear risk factors should raise concern for underlying conditions such as systemic mastocytosis.

Research shows that up to 50% of people with SM experience severe bone loss, which can lead to unexpected fractures. Misdiagnosis is common because symptoms can mimic more common conditions like primary osteoporosis or irritable bowel syndrome.

Make No Bones about Osteoporosis
Osteoporosis is a condition, which causes the bones to become thin and weak, with a tendency to fracture easily.

This case highlights the importance of early testing for SM in people with unexplained bone loss or fractures. Routine testing for serum tryptase levels and early bone marrow evaluation could help detect cases sooner, preventing severe complications and long-term damage.

Finally, the authors emphasize the need to raise awareness of systemic mastocytosis and to consider it when evaluating young patients with osteoporosis that has no clear cause.

They also highlight the importance of further research into cases without the usual genetic mutation, as these may require different treatment strategies.

Reference:

Breaking point: Systemic mastocytosis manifesting as severe osteoporosis- (https://www.oncoscience.us/article/614/text/)

Source-Eurekalert