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Diagnosis guides
6 rare diseases that are often missed. Each guide covers red flags, the diagnoses patients carry first, testing in order, pitfalls, family screening and ICD-10 codes, with a one-page checklist to print.
When to suspect it and what to test
Each line in a guide links to its published source.
Fabry disease
Fabry disease red flags by age, common misdiagnoses, enzyme and GLA testing for men and women, lyso-Gb3, VUS handling, family screening and ICD-10 E75.21.
Gaucher disease
Gaucher disease red flags for hematology, liver and bone clinics, misdiagnoses, enzyme and GBA1 testing, why routine marrow biopsy is not needed, ICD-10 E75.22.
IgA nephropathy
IgA nephropathy red flags, common misdiagnoses, urinalysis, UPCR, eGFR and serologies, biopsy with MEST-C, KDIGO 2025 biopsy points and ICD-10-CM N02.B codes.
Paroxysmal nocturnal hemoglobinuria (PNH)
PNH red flags, Coombs-negative hemolysis, unusual-site thrombosis, high-sensitivity flow cytometry with FLAER, transfusion pitfalls and ICD-10 D59.5.
Pompe disease
Late-onset Pompe disease red flags, common misdiagnoses, dried blood spot GAA testing and confirmation, pseudodeficiency pitfalls, family testing and ICD-10 E74.02.
Transthyretin (ATTR) amyloidosis
ATTR amyloidosis red flags, common misdiagnoses, light chain tests, bone scan grading with SPECT, TTR gene testing, family screening and ICD-10 E85 codes.