Leiomiomatosis hereditaria: manejo interdisciplinario de un caso clínico

Hereditary leiomyomatosis with renal cell carcinoma (HLRCC) is a rare autosomal dominant syndrome characterized by cutaneous leiomyomas, uterine fibroids, and an increased risk of type2 renal cell carcinoma. It originates from germline mutations in the fumarate hydratase (FH) gene, which encodes the enzyme of the same name. Deficiency of this enzyme leads to the accumulation of fumarate, an oncogenic metabolite. We present the case of a 65-year-old man with multiple cutaneous leiomyomas detected in primary care. The aim is to analyze his diagnostic classification, highlight the usefulness of genetic testing in screening for hereditary syndromes in Family Medicine, and propose a coordinated referral algorithm.

A literature review was conducted in PubMed Central, NIH Cancer.gov, ScienceDirect, and SciELO, applying the available methodology to the clinical case. The patient was evaluated by an interdisciplinary team comprised of Primary Care, Dermatology, Clinical Biochemistry, and Urology specialists. Informed consent was obtained in accordance with current ethical guidelines.

The clinical-histological study confirmed the presence of multiple cutaneous leiomyomas. Genetic analysis identified a likely pathogenic variant in FH, consistent with HLRCC.

HLRCC requires a high index of clinical suspicion for early diagnosis and appropriate oncological management. Its detection in primary care optimizes referral, follow-up, and family screening through an interdisciplinary approach.