A woman suffered for 6 years from a rare disease, with broken bones all over her body, but still got pregnant and gave birth safely.
Go everywhere can not find the disease
The patient is Ms. LTL (34 years old, from Lam Dong). In 2017, she fell ill with pain in the chest, ribs, back, to both sides of the hips, feet and then spread throughout the body. Ms. L. visited all the large and small hospitals in the country but still could not find the cause, the pain became more and more severe, the pain rating on the pain scale reached a peak of 10/10. Even though she had broken ribs, coccyx, and right foot bone, Ms. L. still tried to get pregnant and gave birth by cesarean section in 2019.
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Doctors are operating on a patient. |
After many visits without finding the disease, in 2021, Ms. L. was referred to Dr. Ly Dai Luong, Lecturer of the Faculty of Medicine, Ho Chi Minh City National University. After a series of tests, imaging diagnosis, bone density measurement... Dr. Luong initially concluded that Ms. L. had severe osteomalacia related to hypophosphatemia. However, to make an accurate conclusion, the patient needs to have a PET-CT scan, a type of test that no medical facility in Vietnam has the appropriate radioactive isotope (Dotatate gallium Ga-68 isotope).
Given the patient's urgent condition, the doctors sought help from professors at the Singapore National Hospital. The results determined that she had a pathological fracture due to severe osteomalacia related to hypophosphatemia caused by a mesenchymal tumor that secretes FGF23 (a hormone that controls calcium-phosphate-bone metabolism) in the right heel bone. Dr. Ly Dai Luong consulted with colleagues who are medical experts to provide the patient with the best possible treatment.
Rare disease in the world
Doctor BSCK2 Nguyen Trong Anh, Vice President of Ho Chi Minh City Sports Medicine Association, Senior Consultant, Nam Sai Gon International General Hospital, said that the surgery to remove the heel bone tumor for the patient was performed smoothly after more than 1 hour of high concentration at Nam Sai Gon International General Hospital. The surgical team successfully removed the entire heel bone tumor for the patient and sent the pathology to France to confirm the cause of the disease.
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Doctors use biological bone to fill the gap of removed tumor |
“This is an extremely rare case, not only in Vietnam but also in the world. The patient was given an MRI to examine and choose the surgical path, determine the size and location of the tumor, which occupies almost the entire diameter of the calcaneus,” Dr. Trong Anh informed.
Currently, the patient is continuing to be monitored for bone healing and post-operative recovery. In addition, calcium and phosphorus levels are also continuously monitored after surgery to provide appropriate treatment in cases where the patient still has a phosphate deficiency after surgery.
“Although it is a rare disease, it cannot be ruled out in patients with broken bones or generalized muscle weakness. Therefore, if you experience symptoms of pain and muscle weakness that do not improve after a long time of treatment, you should see an endocrinologist to find out the cause of the disease, and then have an appropriate treatment plan,” Dr. Trong Anh advised.
Osteomalacia is a very rare disease, with less than 100 cases recorded worldwide to date. In Vietnam, only 1 case was recorded in 2016, but the exact cause has not been determined. Determining the exact cause of the disease for a complete treatment is very difficult, and treatment is not easy.
The challenge for doctors is that if not treated promptly, patients will face bone fractures throughout the body, experience extreme pain, or have to be treated with lifelong supplementation of phosphorus and calcium - this treatment is considered impossible because it will cause the patient to have continuous diarrhea and greatly affect liver and kidney function.
THANH SON
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