Angiosarcoma: a rare disease in the spotlight

Rare and difficult to diagnose, angiosarcoma nonetheless has warning signs that physicians should try to look out for, say local experts.

Brought into greater public consciousness by the recent death of celebrity designer Virgil Abloh, angiosarcoma is a rare form of soft tissue sarcoma—comprising 1% of all such cancers—that develops in the endothelial cells lining blood vessels and lymph vessels.

While it usually occurs in the head and neck, it can manifest anywhere in the body, said Dr Hafizah Zaharah, consultant clinical oncologist.

Over several years of oncological practice, Hafizah has personally encountered one case of angiosarcoma; a young patient who had presented at an unfortunately unresectable stage of disease.

“It appeared initially as a blue lesion of the scalp, which subsequently progressed and ulcerated,” said Hafizah. “He then had to receive radiation and chemotherapy.”

Cardiac angiosarcoma is a particularly aggressive form which grows rapidly to infiltrate cardiac muscle, obstructing blood flow, and likely leading to death. However, it is extremely difficult to diagnose as it is often asymptomatic, according to Dr Foo Yoke Loong, consultant cardiologist and internist.

“Patients might present with mild difficulty in breathing or fatigue during exercise or exertion, which can be due to various other reason besides cardiac angiosarcoma,” said Foo. “When the angiosarcoma is large and obstructing the heart, the patient might present with reduced effort tolerance, shortness of breath, leg swelling, and occasional chest pain.”

Sharing from his own experience, Foo described a patient with cardiac angiosarcoma he encountered during his cardiology training, who presented with shortness of breath and heart failure symptoms post-pregnancy. Due to the aggressive nature of the disease, the patient succumbed not long after.

Steps to early intervention

As cardiac angiosarcoma is often diagnosed only at a late stage of disease, Foo advocated for screening measures in any patients presenting with shortness of breath and chest discomfort which are prolonged and worsening with time.

Cardiac angiosarcoma is often confirmed through electrocardiogram (ECG), computed tomography (CT) scan, or magnetic resonance imaging (MRI), followed by a cardiac biopsy. Of these, ECG is widely available and provides a relatively simple non-invasive technique for the initial evaluation; it can identify the presence of suspicious masses and may provide information about any circulatory obstructions, said Hafizah.

According to Foo, there is no known hereditary component to the disease. As such, it should be kept in mind as part of common health checkups and screenings. Optimal treatment depends on various factors such as patient’s age, comorbidities, and tumour size and location.

“If the tumour is resectable, then open heart surgery is required to conduct a complete resection in order to prevent the tumour from recurring,” said Foo. “After that, the treatment will be followed up with chemotherapy and radiotherapy.”

Foo also noted that atrial myxoma—while benign—can mimic the symptoms of cardiac angiosarcoma. However, the two conditions can be differentiated via ECG and CT scan.

Foo concluded by stressing the importance of good communication and trust between patients and physicians to support early intervention on any concerning symptoms.