Case
Description
A 36-year-old
woman presented to the nephrology department in November 2020, referred by her
primary care physician and gastroenterologist. Symptoms included vomiting,
nausea, fatigue, and an unintended 8 kg weight loss over a period of 2 weeks.
Her hemoglobin (Hb) was 86 g/L (ref 121-150 g/L), serum albumin (S-Albumin) 13
g/L (ref 32-46 g/L) , 24-hour urinary protein (U-Prot) 11 g/24h, serum
creatinine (S-Crea) 173 µmol/L and estimated glomerular filtration rate (eGFR)
32 ml/min/1.73 m². Serum protein electrophoresis (S-proteinogram) showed an
IgG-lambda M-spike. She was previously healthy with no known rheumatological,
oncological, hematological, or chronic inflammatory diseases. A pharmacist by
profession, she had moved to Estonia in January 2020 with her husband, leaving
no previous medical records available. Her family history was unremarkable,
with both sisters and parents in good health.
Kidney biopsy
revealed amyloidosis, with immunofluorescence confirming IgM and lambda light
chain expression. Amyloid deposits were also identified in the heart muscle
(via cardiac MRI with T1/T2 mapping), subcutaneous tissue, and bone marrow. The
diagnosis was confirmed as primary AL amyloidosis, and secondary causes
(including MGUS, MM, etc.) were ruled out.
Systemic AL
treatment was initiated using the VCD regimen (bortezomib, cyclophosphamide,
dexamethasone), and hemodialysis (HD) began in December 2020 due to a decrease
in eGFR to 8 ml/min/1.73 m². Complications included severe viral infections
(including SARS-CoV-2 pneumonia requiring high-flow oxygen therapy via AIRVO),
debilitating diarrhea, and candidiasis. Edema and fatigue worsened to the point
of severe exhaustion. After three VCD courses, the patient refused further
treatment in March 2021. Due to secondary immunodeficiency, intravenous
immunoglobulin therapy (IVIG) 20 g every four weeks (Q4W) was started, albumin
infusions were administered to manage edema, and dialysis continued on an
outpatient basis (since January 2021) with hemodiafiltration (HDF) three times
a week.
The patient's
condition gradually improved from summer 2021. Exhaustion subsided, and she
became more active and well-nourished. By November 2022, she unexpectedly
conceived, leading to an increase in HD sessions to six times a week (19 hours
per week, up from 15) to maintain safe pre-procedural serum urea (S-Urea)
levels (her pre-procedural S-Urea remained 5.2–10.0 mmol/L, post-procedural
1.6–4.8 mmol/L [ref 2.8 – 8.1 mmol/L]).
Dialysis adjustments, including switching from HDF to HD with higher potassium dialysate
3 mmol/L instead of the usual 2 mmol/L (her pre-procedural S-K remained 2.6–4.0
mmol/L, post-procedural S-K 4.2–4.7 mmol/L [ref 3.4-4.8 mmol/L]) and initiating oral
calcium supplementation, were made to manage electrolyte levels and minimize
hypophosphatemia, hypocalcemia, and hypokalemia [4,5]. Throughout the
pregnancy, IV iron (iron sucrose 100 mg weekly) and EPO therapies were
continued, with darbepoetin dosage increased from 20 mcg weekly to 130 mcg
weekly at the time of delivery.
From the second
trimester, the ultrafiltration volume was adjusted so that the patient's body
weight at the end of each HD session was targeted to be 100 g higher than after
the previous session (600 g per week) to account for fetal growth and prevent
dehydration symptoms [4,5]. We implemented intensified monitoring with weekly
blood tests taken before and after the procedure instead of the usual monthly
pre-procedure tests (CBC, urea, creatinine, K, Ca, P, Mg) [4,5].
In May 2023, the
patient delivered a baby boy vaginally at 28 weeks of gestation, weighing 1080
g and measuring 37 cm, with Apgar scores of 7/7/8. After five days of CPAP
support, the baby breathed independently and was breastfed. The mother remained
stable, and her HDF therapy was continued four times a week.
By the time the
child turned one year old in May 2024, his development was age-appropriate,
with no psychomotor or somatic abnormalities (as of October 2025). The mother
continued to receive IVIG 20–30 g every four weeks and HDF therapy three times
a week. From summer 2024, her condition became complicated by worsening cardiac
issues, including endocarditis (which was successfully treated), as well as
intestinal malabsorption. In August 2024, parenteral nutrition was initiated,
and HDF therapy was increased to six times a week to prevent fluid overload.
Unfortunately, her general condition deteriorated further, and she passed away two
months later.
