Building Your PAMI Care Team

Because PAMI syndrome is a multisystem disorder—meaning it affects everything from the bone marrow to the skin and joints—managing it requires shared responsibility between you and a coordinated team of medical specialists ^[1][2].

Your Care Team Roster

A coordinated team is essential because PAMI symptoms often overlap. A change in one area, like a new medication for skin ulcers, can impact another area, such as white blood cell counts ^[3].

• Pediatric Rheumatologist or Immunologist: Often the central coordinator of the team depending on the primary symptoms. They manage the overall systemic inflammation, interpret levels of calprotectin (MRP8/14) and zinc, and select targeted therapies like biologics ^[1][4].
• Hematologist: Because nearly all reported PAMI patients have neutropenia (low white blood cells) and anemia (low red blood cells), a hematologist is vital ^[1]. They monitor the health of the bone marrow and watch for rare but serious complications like myelodysplastic syndrome (MDS) ^[5][3].
• Geneticist: A geneticist confirms the specific PSTPIP1 variant (such as p.E250K or p.E257K) and can help test other family members if needed ^[6][7].
• Dermatologist: With many children experiencing skin manifestations, a dermatologist with experience in autoinflammatory skin conditions like pyoderma gangrenosum is a key partner ^[1][3].

Specialized Support

Depending on your child’s specific symptoms, you may also need:

• Nephrologist: To monitor for potential kidney issues, which can occur even if inflammation is being treated ^[2].
• Cardiologist or Pulmonologist: To screen for pulmonary hypertension (high blood pressure in the lungs), a rare but reported complication ^[8].
• Gastroenterologist: If your child experiences bowel inflammation or colitis ^[4].
• Allied Health: Psychology, social work, genetic counseling, and school support are critical for navigating life with a chronic, rare disease.

Preparing for the First Specialist Visit

When you see a PAMI specialist for the first time, you are providing them with the “evidence” they need to map out a treatment plan. Do not rely on the doctor’s office to have transferred all your records; bring your own copies of these critical records ^[1][3]:

1. Longitudinal Blood Count Trends: Bring every Complete Blood Count (CBC) report you have. Seeing the trend of neutrophils and hemoglobin over months or years is much more helpful than a single recent test ^[3][9].
2. Specific Inflammatory Markers: Bring results for serum zinc and calprotectin (MRP8/14). These are the hallmark markers that distinguish PAMI from other similar conditions ^[1][10].
3. Full Genetic Sequencing Report: Bring the actual multi-page lab report from the genetic testing company, not just a summary note from a previous doctor, so they can review the exact classification ^[6].
4. Growth Charts: PAMI frequently causes growth failure. Bringing a copy of your child’s growth curves from birth can help the doctor see if and when their growth began to stall ^[1].
5. Historical Records of Infections and Fevers: A log of when your child had fevers, what they looked like, and how long they lasted is invaluable for the rheumatologist ^[1].

The Importance of Coordination

Because PAMI is so rare, your specialists may need to consult with experts at larger research hospitals. A well-coordinated team will be willing to reach out to colleagues who have published research on PAMI to ensure your child is receiving the most current care ^[5][2]. Care coordination is a shared responsibility between you and the clinical team.