K����

Tracing the first warning signs

Recently, a 52-year-old male patient visited K���� for a general health check-up. The general practitioner recommended a specialized cardiology examination due to recent episodes of shortness of breath.

Dr. Alain Lebon, Clinical and Interventional Cardiology Department at K����, shared:
“In addition to shortness of breath, the patient exhibited signs of muscle weakness. These symptoms could be related to both the cardiovascular and nervous systems, raising the possibility of a rare disease affecting both the heart and the nervous system. Therefore, I collaborated with Dr. Sabrina Stefanizzi from the Neurology Department for a multidisciplinary consultation.”

During the clinical examination, Dr. Sabrina Stefanizzi suspected the patient had a neurological disorder. Based on clinical evaluations and imaging diagnostics—including echocardiography, the diagnosis of hypertrophic cardiomyopathy was made with a suspicion of amyloidosis.

The most common cause of cardiac amyloidosis is secondary to a hematologic disorder but all the blood and urine tests to identify this illness were normal, ruling out the secondary amyloidosis. At the same time a complete assessment of the cardiopathy was made including bone scintigraphy, and cardiac MRI. Based on those tests, the hypothesis of cardiac amyloidosis still was the most likely.

Relentless efforts to diagnose and find treatment options

The primary amyloidosis is hereditary illness, it is a rare disease caused by abnormal amyloid protein deposits secondary to a gene mutation, which can impair multiple organ functions.

To achieve an accurate diagnosis, the doctors collaborated with international medical institutions to conduct genetic testing and analyze a salivary gland biopsy.

The patient's sample was sent to Green Cross Laboratories in South Korea for genetic mutation analysis, while the biopsy sample was sent to a specialized histopathology center in France for further tissue analysis.

The biopsy results confirmed the diagnosis of amyloidosis. The patient was found to be a heterozygous carrier of the c.157T>C (p.Phe53Leu) variant, a mutation associated with hereditary transthyretin amyloidosis (hATTR).

Dr. Sabrina Stefanizzi explained: “Hereditary transthyretin amyloidosis progresses slowly but can lead to heart failure, peripheral neuropathy, muscle weakness, orthostatic hypotension, and even early mortality if left undiagnosed and untreated. The treatment goal is to prevent amyloid buildup, improve the patient’s quality of life, and prevent complications.”

With the confirmed diagnosis, HFH doctors thoroughly discussed treatment options with the patient. The medical team also continues to collaborate with international healthcare organizations to determine the most effective treatment as this case posed both medical and financial challenges in selecting an appropriate treatment regimen.

The role of multidisciplinary collaboration and international cooperation in treating rare diseases

Hereditary transthyretin amyloidosis affects multiple organ systems, requiring expertise from various specialties, including cardiology, neurology, hematology, and genetics.

This case exemplifies the effectiveness of close interdisciplinary collaboration among specialists especially when dealing with diseases that present with vague and easily misinterpreted symptoms. With their deep expertise and specialized experience, doctors can narrow down potential diagnoses and refine treatment strategies.

In addition, HFH applies a centered medicine Western approach, ensuring that every aspect of the patient's condition is considered and treated with the highest standard of medical care. The patient is fully informed, with doctors taking the time to explain each step of diagnosis and treatment, addressing any concerns and ensuring the patient’s active involvement in their healthcare decisions.

Moreover, partnerships with leading international medical centers have enabled HFH to access advanced diagnostic methods that are not yet widely available in Vietnam. These collaborations also facilitate the exploration of optimal treatment solutions, helping patients gain access to specialized medications tailored to their specific needs.

It is hoped that more patients in Vietnam will have the opportunity to benefit from advanced diagnostic and treatment options, ultimately improving their quality of life.

��