손·얼굴 서서히 커지는 ‘말단비대증’…“AI로 조기 진단한다” [건강한겨레]

A rare condition known as "long bone enlargement syndrome" causes fingers to thicken like sausages, shoe sizes to gradually increase, and facial features to become exaggerated. This rare endocrine disorder is caused by excessive production of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Due to the slow progression over years or even decades, many patients and their families are unaware of the condition until it reaches a critical stage.

In Korea, patients face challenges with diabetic comas and even cancer due to delayed diagnosis and treatment. Recent interest in using artificial intelligence (AI) for early diagnosis has grown in both domestic and international medical circles. However, distinguishing this condition from gigantism is challenging as both involve abnormal growth due to excessive growth hormone production.

Gigantism occurs during childhood and adolescence, while long bone enlargement syndrome typically appears in adulthood after the growth plates have closed. The key difference lies in the distribution of the bone surface and the specific organs affected by the hormone overgrowth, such as the hands, feet, nose, and cheeks. This overgrowth leads to serious systemic issues like diabetes, hypertension, and various metabolic and cardiovascular complications.

Additionally, the enlarged tissues can cause sleep apnea, and affect the heart and blood vessels. Some studies suggest that patients with long bone enlargement syndrome have a significantly higher risk of developing certain types of cancer, particularly colon and rectal cancer, and thyroid cancer. However, research on cancer-specific risk and screening methods varies, requiring individualized patient management.

The diagnostic process varies significantly between Korea and Japan, with Japan having a more straightforward approach based on IGF-1 blood tests, while Korea relies on an outdated and cumbersome OGTT (oral glucose tolerance test) method. This disparity has resulted in significantly underdiagnosed cases in Korea, with an estimated 0.68 cases per 10,000 people compared to the international average of 1 case per 10,000.

The underdiagnosis is largely due to the negative stigma surrounding the facial changes, leading patients to avoid medical visits. The Japanese research team has recently developed a model that analyzes photos of the hands to effectively identify long bone enlargement syndrome patients, overcoming privacy concerns and limitations of previous methods.

This AI model shows high sensitivity and specificity in detecting the syndrome, potentially transforming the diagnostic process and reducing delays. If adopted in general health screenings or mobile applications, it could significantly improve early diagnosis rates. The ultimate goal is to create a "early diagnosis ladder" that connects patients with endocrinologists for timely intervention and improved long-term care.