People looking for the missing "pieces" in the journey to decode rare diseases

Faced with the unknowns of rare diseases that challenge the medical profession, not all doctors are patient enough to get to the bottom of the pathogenesis. At Vinmec Central Park International General Hospital (HCMC), Dr. Phan Truc has bravely embarked on this arduous path, with the hope of bringing new hope to cases whose causes remain unknown.

From helplessness to surprising discovery about extremely rare disease in Vietnamese medicine

A special case has made Master, Doctor Phan Truc - Specialist in Hematology - Rare Diseases, Center for Oncology - Hematology, Vinmec Central Park International General Hospital remember forever. The young woman traveled for 3 years to large and small hospitals to find the cause of her condition of generalized edema, effusion of the abdomen, diffuse thrombosis, acute pulmonary embolism and severe dyslipidemia.

“The patient had used more than 10 types of medicine and been hospitalized countless times, but her condition was still incredibly ‘absurd’. When she came to Vinmec, that was really her last hope ,” Dr. Truc recalled.

At Vinmec Central Park, after consultation and in-depth evaluation, Dr. Truc discovered that the cause was intestinal lymphatic fistula. This is an extremely rare disease, only recorded in international medical literature with a rate of <1/100,000 people, with no similar reports in Vietnam.

A timely treatment regimen was implemented. However, despite intensive treatment with many internal medicines, the patient continued to have protein and micronutrient depletion, generalized edema, metabolic disorders, immunodeficiency and persistent chronic inflammation.

Master, Doctor Phan Truc examines a patient

“My feeling at that time was both helpless and urged me to find the missing 'piece'. Chronic inflammation means that the inflammatory agent must continuously exist in the body. All hypotheses about autoimmune diseases or cancer have been ruled out, so what could be so persistently present?”, the doctor asked.

And then, from that question, a new approach was opened: “Eat, we have to eat every day, if there is something wrong with the food, this continuous inflammatory response is completely possible. With such evidence of leaky gut, the answer may lie here.”

From the clue of the recurring abdominal pain after each meal, the doctor decided to check the anti-transglutaminase IgA (tTg-IgA) antibody index - an important test in diagnosing the rare disease Celiac. In this disease, when the body is exposed to gluten (a group of proteins common in wheat, barley, oats and foods made from flour), the immune system will be confused, secreting tTg-IgA antibodies that attack the enzymes that protect the small intestine, causing long-term damage to the mucosa.

As a result, the patient developed intestinal lymphatic fistula, leading to severe protein loss, generalized edema, and hematological disorders. Thus, intestinal lymphatic fistula is only a superficial manifestation, while the root of the disease lies in an excessive immune response to gluten.

Based on this discovery, the treatment team re-established a drug-free regimen. Patients only need to follow a gluten-free diet, replacing starch sources with natural foods such as sweet potatoes, potatoes, etc. to gradually restore their health.

The results were surprising when just one week later, the patient's swelling was gone and his vital signs returned to normal. After two months, the patient was completely healthy without any further relapses.

When medical aspirations meet a worthy "launching pad"

“To decode a rare disease, one individual alone is not enough, it requires a wide and deep ecosystem, connecting between specialties, from clinical, paraclinical to academic issues. I was lucky to find these factors at Vinmec ,” the doctor shared.

For Dr. Phan Truc, handling each rare disease is not only a matter of expertise, but also an attitude towards medicine: always questioning the mechanism to the end and explaining the question “why”. Choosing to enter this field means stepping into unexplored land, where each disease is an open problem and each solution is a contribution to the medical community.

Currently, Dr. Truc is the leader in researching and treating a series of rare diseases in the field of Hematology - Immunology at Vinmec Healthcare System, joining hands to create a sustainable foundation for the field of rare diseases in Vietnam.

Dr. Phan Truc is the person in charge of researching and treating a series of rare cases at Vinmec Healthcare System.

In addition, thanks to the strong support from Vinmec, he has been implementing a series of systematic strategic programs: building a Hematology - Rare Disease Clinic based on pathogenesis thinking; compiling a Rare Disease Navigation Handbook to help grassroots doctors identify and treat correctly from the beginning; developing the Pivie online training network connecting young doctors nationwide.

“The biggest gap today is not just in technology or equipment, but in the ability to ask the right questions at the right time. When a doctor asks the question 'why does the mechanism happen like this?', a new journey to save the patient's life will open up ,” Dr. Truc emphasized.

That spirit is also the guiding principle throughout Vinmec's treatment strategy: always going to the bottom of medical nature so that every case, no matter how challenging, has the opportunity to receive the best and most correct treatment.

Source: https://www.sggp.org.vn/nguoi-di-tim-nhung-manh-ghep-con-thieu-trong-hanh-trinh-giai-ma-benh-hiem-post823258.html