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Run npx skillmds@latest add dromlakhani/ppgl-asymptomatic-carrier-surveillance-age in your terminal (requires Node.js), paste this page's agent-chat prompt into Claude, Cursor, or any MCP-connected agent, or download the SKILL.md file and copy it into your agent's skills directory.

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Who published Ppgl Asymptomatic Carrier Surveillance Age?

dromlakhani (@dromlakhani) published this skill. Their other Agent Skills are listed on their SkillMD profile.

Ppgl Asymptomatic Carrier Surveillance Age by dromlakhani

Name: Ppgl Asymptomatic Carrier Surveillance Age
Rating: 4.2 (5 reviews)
Author: dromlakhani

Ppgl Asymptomatic Carrier Surveillance Age

Determines the appropriate age to initiate surveillance for asymptomatic genetic carriers of PPGL pathogenic variants. Indicated for a child of a PPGL patient with a known pathogenic variant, identification of an at‑risk relative for PPGL genetic screening, or initiation of surveillance in a pediatric genetic carrier.

dromlakhani Updated Sep 8, 2026 10 repo stars

File contents

Asymptomatic Genetic Carrier Surveillance Initiation Age for PPGL

STEP 1 — Gather Information

Collect the specific pathogenic variant (SDHB vs SDHA/SDHC/SDHD) from genetic testing and confirm the indication (child of PPGL patient with known variant, at‑risk relative, or pediatric carrier).

STEP 2 — Rule In / Rule Out

Determine if the carrier harbors an SDHB pathogenic variant; if yes, proceed to SDHB pathway, otherwise proceed to SDHA/SDHC/SDHD pathway.

STEP 3 — Classify or Stratify

Assign the surveillance initiation age range: 6–10 years for SDHB carriers; 10–15 years for SDHA, SDHC, or SDHD carriers.

STEP 4 — Decide

Begin surveillance at the assigned age with annual clinical evaluation, urinary or plasma‑free fractionated metanephrines, and MRI of the head, neck, chest, abdomen, and pelvis; repeat per schedule (annual clinical, biennial biochemical, MRI every 2–3 years).

Clinical Guardrails / Mimics / Pitfalls

Do not start surveillance before age 6 for any variant; avoid CT in children due to radiation exposure; do not rely solely on biochemical testing without imaging; do not delay surveillance beyond age 15 for SDHA/SDHC/SDHD carriers; ensure genetic counseling is provided to discuss penetrance and variable expression.

Concrete Clinical Example

A 7‑year‑old child of a parent with an SDHB‑related PPGL tests positive for the familial SDHB variant; surveillance is initiated with yearly clinical exam, urinary fractionated metanephrines, and whole‑body MRI.

Source: Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025, Japan Endocrine Society, 2025, doi:10.1507/endocrj.EJ25-0165

TODO: consider adding scripts/calc.py for the ppgl-asymptomatic-carrier-surveillance-age calculator

---name: ppgl-asymptomatic-carrier-surveillance-agedescription: Determines the appropriate age to initiate surveillance for asymptomatic genetic carriers of PPGL pathogenic variants. Indicated for a child of a PPGL patient with a known pathogenic variant, identification of an at‑risk relative for PPGL genetic screening, or initiation of surveillance in a pediatric genetic carrier.---# Asymptomatic Genetic Carrier Surveillance Initiation Age for PPGL## STEP 1 — Gather InformationCollect the specific pathogenic variant (SDHB vs SDHA/SDHC/SDHD) from genetic testing and confirm the indication (child of PPGL patient with known variant, at‑risk relative, or pediatric carrier).## STEP 2 — Rule In / Rule OutDetermine if the carrier harbors an SDHB pathogenic variant; if yes, proceed to SDHB pathway, otherwise proceed to SDHA/SDHC/SDHD pathway.## STEP 3 — Classify or StratifyAssign the surveillance initiation age range: 6–10 years for SDHB carriers; 10–15 years for SDHA, SDHC, or SDHD carriers.## STEP 4 — DecideBegin surveillance at the assigned age with annual clinical evaluation, urinary or plasma‑free fractionated metanephrines, and MRI of the head, neck, chest, abdomen, and pelvis; repeat per schedule (annual clinical, biennial biochemical, MRI every 2–3 years).## Clinical Guardrails / Mimics / PitfallsDo not start surveillance before age 6 for any variant; avoid CT in children due to radiation exposure; do not rely solely on biochemical testing without imaging; do not delay surveillance beyond age 15 for SDHA/SDHC/SDHD carriers; ensure genetic counseling is provided to discuss penetrance and variable expression.## Concrete Clinical ExampleA 7‑year‑old child of a parent with an SDHB‑related PPGL tests positive for the familial SDHB variant; surveillance is initiated with yearly clinical exam, urinary fractionated metanephrines, and whole‑body MRI.**Source:** Japan Endocrine Society Clinical Practice Guideline for the Diagnosis and Management of Pheochromocytoma and Paraganglioma 2025, Japan Endocrine Society, 2025, doi:10.1507/endocrj.EJ25-0165> **TODO:** consider adding scripts/calc.py for the ppgl-asymptomatic-carrier-surveillance-age calculator

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